Gene Die

Disease id
OMIM:130650
OMIM:232400
OMIM:260920
OMIM:613812
OMIM:615085
OMIM:604273
OMIM:266150
OMIM:614924
OMIM:222700
OMIM:609981
OMIM:170995
OMIM:121300
OMIM:602579
OMIM:251290
OMIM:615182
OMIM:211750
OMIM:230900
OMIM:614038
OMIM:201100
OMIM:214500
OMIM:230000
OMIM:616278
OMIM:610293
OMIM:212140
OMIM:276700
OMIM:604302
OMIM:226980
OMIM:614576
OMIM:607624
OMIM:233700
OMIM:309900
OMIM:607015
OMIM:246900
OMIM:607616
OMIM:269600
OMIM:614052
OMIM:614887
OMIM:613385
OMIM:252900
OMIM:611721
OMIM:252500
OMIM:608594
OMIM:208540
OMIM:613561
OMIM:613027
OMIM:613490
OMIM:231670
OMIM:300868
OMIM:235200
OMIM:614582
OMIM:601847
OMIM:615559
OMIM:308240
OMIM:615688
OMIM:610678
OMIM:216360
OMIM:306400
OMIM:214100
OMIM:616026
OMIM:300884
OMIM:194380
OMIM:266100
OMIM:614299
OMIM:231005
OMIM:252930
OMIM:609136
OMIM:207750
OMIM:232220
OMIM:154800
OMIM:219700
OMIM:233710
OMIM:614034
OMIM:613011
OMIM:616100
OMIM:230500
OMIM:603553
OMIM:205400
OMIM:614480
OMIM:607196
OMIM:170100
OMIM:602347
OMIM:615486
OMIM:148500
OMIM:151660
OMIM:257220
OMIM:615631
OMIM:613280
OMIM:251110
OMIM:606054
OMIM:232700
OMIM:216400
OMIM:233690
OMIM:267700
OMIM:215140
OMIM:607330
OMIM:203800
OMIM:261750
OMIM:225750
OMIM:613839
OMIM:231000
OMIM:610377
OMIM:612852
OMIM:261515
OMIM:229600
OMIM:605479
OMIM:251880
OMIM:614602
OMIM:614470
OMIM:203700
OMIM:615381
OMIM:232200
OMIM:212065
OMIM:229700
OMIM:609060
OMIM:259700
OMIM:260400
OMIM:608013
OMIM:252920
OMIM:231680
OMIM:312750
OMIM:214110
OMIM:607765
OMIM:230400
OMIM:266510
OMIM:616217
OMIM:191900
OMIM:263300
OMIM:609241
OMIM:269840
OMIM:601859
OMIM:250250
OMIM:219800
OMIM:253000
OMIM:603554
OMIM:312870
OMIM:253010
OMIM:613489
OMIM:602782
OMIM:614862
OMIM:613673
OMIM:603909
OMIM:243300
OMIM:277900
OMIM:615895
OMIM:269700
OMIM:607014
OMIM:614872
OMIM:608836
OMIM:610333
OMIM:222470
OMIM:607594
OMIM:614882
OMIM:208400
OMIM:608971
OMIM:612541
OMIM:272200
OMIM:236200
OMIM:614727
OMIM:228000
OMIM:615234
OMIM:607016
OMIM:615924
OMIM:231050
OMIM:614866
OMIM:613730
OMIM:606664
OMIM:230800
OMIM:616263
OMIM:603903
OMIM:607115
OMIM:256550
OMIM:238970
OMIM:614741
OMIM:615238
OMIM:142680
OMIM:235555
OMIM:609016
OMIM:300331
OMIM:218330
OMIM:131300
OMIM:135500
OMIM:253220
OMIM:133540
OMIM:300400
OMIM:612840
OMIM:612015
OMIM:204000
OMIM:613471
OMIM:606003
OMIM:201475
OMIM:268800
OMIM:607625
OMIM:136120
OMIM:200150
OMIM:606367
OMIM:232300
OMIM:253250
OMIM:608233
OMIM:614876
OMIM:215700
OMIM:263200
OMIM:266920
OMIM:614870
OMIM:613070
OMIM:214950
OMIM:613977
OMIM:603552
OMIM:613978
OMIM:230350
OMIM:256040
OMIM:608540
OMIM:251100
OMIM:609628
OMIM:613327
OMIM:257200
OMIM:239200
OMIM:610717
OMIM:267000
OMIM:602390
OMIM:615438
OMIM:613985
OMIM:212138
OMIM:306000
OMIM:269921
OMIM:252940
OMIM:602361
OMIM:249100
OMIM:201450
OMIM:253260
OMIM:256810
OMIM:105200
OMIM:615630
OMIM:220110
OMIM:278000
OMIM:610505
OMIM:207900
OMIM:615285
OMIM:272800
OMIM:246450
OMIM:237500
OMIM:211600
OMIM:607906
OMIM:614185
OMIM:610768
OMIM:614859
OMIM:253200
OMIM:174050
OMIM:255120
OMIM:149000
OMIM:102700
OMIM:214900
OMIM:308230
OMIM:607626
OMIM:615846
OMIM:612714
OMIM:265800
OMIM:600649
OMIM:264470
OMIM:248500
OMIM:606593
OMIM:606056
OMIM:240500
OMIM:607685
OMIM:615122
OMIM:275630
OMIM:251000
OMIM:258480
OMIM:232240
OMIM:269920
OMIM:614922
OMIM:250950
OMIM:608799
Export for HP:000224
Disease name
BECKWITH-WIEDEMANN SYNDROME
GLYCOGEN STORAGE DISEASE III
HYPER-IGD SYNDROME
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
ATPASE DEFICIENCY, NUCLEAR-ENCODED
PYRUVATE CARBOXYLASE DEFICIENCY
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
LYSINURIC PROTEIN INTOLERANCE
NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIRDEFECT
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3
COPROPORPHYRIA, HEREDITARY
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB
BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA
COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA
C SYNDROME
GAUCHER DISEASE, TYPE II
LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA

ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE
CHEDIAK-HIGASHI SYNDROME
FUCOSIDOSIS
GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
TYROSINEMIA, TYPE I
SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL
GRISCELLI SYNDROME, TYPE 2
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE I
MUCOPOLYSACCHARIDOSIS TYPE II
HURLER-SCHEIE SYNDROME
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
NIEMANN-PICK DISEASE, TYPE B
SEA-BLUE HISTIOCYTE DISEASE
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM
MUCOPOLYSACCHARIDOSIS TYPE IIIA
COMBINED SAPOSIN DEFICIENCY
MUCOLIPIDOSIS II ALPHA/BETA
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
GLYCOGEN STORAGE DISEASE IXC
ALPHA-1-ANTITRYPSIN DEFICIENCY
GLUTARIC ACIDEMIA I
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
HEMOCHROMATOSIS
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
COACH SYNDROME
GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THEYOUNG
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS
DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIAAND/OR PERINATAL EDEMA
EPILEPSY, PYRIDOXINE-DEPENDENT
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2
GAUCHER DISEASE, TYPE IIIC
MUCOPOLYSACCHARIDOSIS TYPE IIIC
PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURGSYNDROME, AND HIRSCHSPRUNG DISEASE
APOLIPOPROTEIN C-II DEFICIENCY
GLYCOGEN STORAGE DISEASE IB
MAST CELL DISEASE
CYSTIC FIBROSIS
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II
HEME OXYGENASE 1 DEFICIENCY
LYMPHOPROLIFERATIVE SYNDROME 1
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V
GM1-GANGLIOSIDOSIS, TYPE I
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
TANGIER DISEASE
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE
MICROCEPHALY, AMISH TYPE
PROLIDASE DEFICIENCY
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3
INTERSTITIAL LUNG AND LIVER DISEASE
TYLOSIS WITH ESOPHAGEAL CANCER
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
NIEMANN-PICK DISEASE, TYPE C1
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IB
HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS
METHYLMALONIC ACIDURIA, CBLB TYPE
PROPIONIC ACIDEMIA
GLYCOGEN STORAGE DISEASE VI
COCKAYNE SYNDROME, TYPE A
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-NEGATIVE
GREENBERG DYSPLASIA
LATHOSTEROLOSIS
ALSTROM SYNDROME
GLYCOGEN STORAGE DISEASE IXB
AICARDI-GOUTIERES SYNDROME 1
MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
GAUCHER DISEASE, TYPE III
MEVALONIC ACIDURIA
OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS
D-BIFUNCTIONAL PROTEIN DEFICIENCY
FRUCTOSE INTOLERANCE, HEREDITARY
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
TRICHOHEPATOENTERIC SYNDROME 2
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHYSYNDROME
GLYCOGEN STORAGE DISEASE IA
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA
FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
SHWACHMAN-DIAMOND SYNDROME
GAUCHER DISEASE, PERINATAL LETHAL
MUCOPOLYSACCHARIDOSIS TYPE IIIB
MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY
RETT SYNDROME
GALACTOSEMIA
PEROXISOME BIOGENESIS DISORDER 3B
NEPHRONOPHTHISIS 19
MUCKLE-WELLS SYNDROME
POLYCYTHEMIA VERA
SCHINDLER DISEASE, TYPE I
SELECTIVE T-CELL DEFECT
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
CARTILAGE-HAIR HYPOPLASIA
CYSTINOSIS, NEPHROPATHIC
MUCOPOLYSACCHARIDOSIS, TYPE IVA
OMENN SYNDROME
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
MUCOPOLYSACCHARIDOSIS TYPE IVB
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ
HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1
WILSON DISEASE
POLYGLUCOSAN BODY MYOPATHY, EARLY-ONSET, WITH OR WITHOUT IMMUNODEFICIENCY
HURLER SYNDROME
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
TRICHOHEPATOENTERIC SYNDROME 1
IMMUNODEFICIENCY, COMMON VARIABLE, 1
ASPARTYLGLUCOSAMINURIA
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-POSITIVE, NK CELL-POSITIVE
NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
MULTIPLE SULFATASE DEFICIENCY
HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK
FARBER LIPOGRANULOMATOSIS
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2
SCHEIE SYNDROME
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
GELEOPHYSIC DYSPLASIA 1
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION,AND CATARACTS
GLYCINE N-METHYLTRANSFERASE DEFICIENCY
GAUCHER DISEASE, TYPE I
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET
SICKLE CELL ANEMIA
CINCA SYNDROME
NEURAMINIDASE DEFICIENCY
HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5
PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY
THROMBOCYTOSIS, FAMILIAL X-LINKED
CRANIOECTODERMAL DYSPLASIA 1
CAMURATI-ENGELMANN DISEASE
ZIMMERMANN-LABAND SYNDROME 1
MUCOPOLYSACCHARIDOSIS TYPE VII
COCKAYNE SYNDROME, TYPE B
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
LEUKOCYTE ADHESION DEFICIENCY, TYPE III
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN
LEBER CONGENITAL AMAUROSIS, TYPE I
REYNOLDS SYNDROME
TRANSALDOLASE DEFICIENCY
ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
SANDHOFF DISEASE
NIEMANN-PICK DISEASE, TYPE C2
FISH-EYE DISEASE
CHOREOACANTHOCYTOSIS
IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
GLYCOGEN STORAGE DISEASE II
MULIBREY NANISM
HERMANSKY-PUDLAK SYNDROME 2
CITRULLINEMIA, CLASSIC
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
MAINZER-SALDINO SYNDROME
LIVER FAILURE, INFANTILE, TRANSIENT
CYANOSIS, TRANSIENT NEONATAL
HEMOGLOBIN H DISEASE
GALACTOSE EPIMERASE DEFICIENCY
AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK
METHYLMALONIC ACIDURIA, CBLA TYPE
MAJEED SYNDROME
NIEMANN-PICK DISEASE, TYPE A
HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY
NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY
PERLMAN SYNDROME
HEMOCHROMATOSIS, TYPE 2A
INFANTILE LIVER FAILURE SYNDROME 1
BETA-THALASSEMIA
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
GLYCOGEN STORAGE DISEASE IXA
SIALURIA
MUCOPOLYSACCHARIDOSIS, TYPE IIID
GRACILE BONE DYSPLASIA
FAMILIAL MEDITERRANEAN FEVER
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF
BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET
MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
AMYLOIDOSIS, FAMILIAL VISCERAL
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
MITOCHONDRIAL COMPLEX IV DEFICIENCY

LYSOSOMAL ACID LIPASE DEFICIENCY
ARGININOSUCCINIC ACIDURIA
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
TAY-SACHS DISEASE
3-@HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY
DUBIN-JOHNSON SYNDROME
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II
GELEOPHYSIC DYSPLASIA 2
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM
MUCOPOLYSACCHARIDOSIS TYPE VI
POLYCYSTIC LIVER DISEASE
CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
KLIPPEL-TRENAUNAY-WEBER SYNDROME
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE
DEFICIENCY
CHOLESTASIS-LYMPHEDEMA SYNDROME
IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIALHYPEROSTOSIS
PYCNODYSOSTOSIS
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY
MANNOSIDOSIS, ALPHA B, LYSOSOMAL
LIG4 SYNDROME
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB
IMMUNODEFICIENCY, COMMON VARIABLE, 2
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC
LYMPHOPROLIFERATIVE SYNDROME 2
CHANARIN-DORFMAN SYNDROME
METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY
OPSISMODYSPLASIA
GLYCOGEN STORAGE DISEASE IC
INFANTILE SIALIC ACID STORAGE DISORDER
3-@METHYLGLUTACONIC ACIDURIA, TYPE I
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE
02240
Associated genes
NSD1 (64324), CDKN1C (1028), H19 (283120), KCNQ1OT1 (10984), H19-ICR (105259599)
AGL (178)
MVK (4598)
CYP7B1 (9420)
SNX10 (29887)
ATPAF2 (91647)
PC (5091)
EARS2 (124454)
SLC7A7 (9056)
MCM4 (4173)
ABCD3 (5825)
CPOX (1371)
MPI (4351)
OCLN (100506658)
SLC25A1 (6576)
CD96 (10225)
GBA (2629)
GATA2 (2624)
SLC39A4 (55630)
LYST (1130)
FUCA1 (2517)
ABCD3 (5825)
PIGM (93183)
SLC22A5 (6584)
FAH (2184)
MIF (4282)
EIF2AK3 (9451)
COG6 (57511)
RAB27A (5873)
NCF1 (653361)
IDS (3423)
IDUA (3425)
DLD (1738)
SMPD1 (6609)
APOE (348)
TMEM70 (54968)
PEX14 (5195)
ITCH (83737)
SGSH (6448)
PSAP (5660)
GNPTAB (79158)
AGPAT2 (10555)
NPHP3 (27031)
YARS2 (51067)
PHKG2 (5261)
SERPINA1 (5265)
GCDH (2639)
PIGA (5277)
HFE (3077)
MRPL3 (11222)
ABCB11 (8647)
PRKCD (5580)
SH2D1A (4068)
CECR1 (51816)
TUFM (7284)
CC2D2A (57545), TMEM67 (91147), RPGRIP1L (23322)
CYBB (1536)
PEX1 (5189)
HNF4A (3172)
ALG13 (79868)
PIEZO1 (9780)
ALDH7A1 (501)
BOLA3 (388962)
GBA (2629)
HGSNAT (138050)
SOX10 (6663)
APOC2 (344)
SLC37A4 (2542)
KIT (3815)
CFTR (1080)
NCF2 (4688)
HMOX1 (3162)
ITK (3702)
CTLA4 (1493)
GLB1 (2720)
PRF1 (5551)
ABCA1 (19)
GPD1 (2819)
SLC25A19 (60386)
PEPD (5184)
ABCB4 (5244)
MARS (4141)
RHBDF2 (79651)
LMNA (4000)
NPC1 (4864)
C15ORF41 (84529)
SLC30A10 (55532)
MMAB (326625)
PCCA (5095), PCCB (5096)
PYGL (5836)
ERCC8 (1161)
CYBA (1535)
HPLH1 (27259)
LBR (3930)
SC5D (6309)
ALMS1 (7840)
PHKB (5257)
TREX1 (11277)
DHFR (1719)
GBA (2629)
MVK (4598)
IL1RN (3557)
HSD17B4 (3295)
ALDOB (229)
ABCB11 (8647)
DGUOK (1716)
SKIV2L (6499)
NRAS (4893)
POLG (5428)
POLD1 (5424)
G6PC (2538)
PMM2 (5373)
FBP1 (2203)
GFM1 (85476)
TCIRG1 (10312)
SBDS (51119)
GBA (2629)
NAGLU (4669)
ETFA (2108), ETFB (2109), ETFDH (2110)
MECP2 (4204)
PEX5 (5830)
HSD3B7 (80270)
GALT (2592)
PEX12 (5193)
DCDC2 (51473)
NLRP3 (114548)
JAK2 (3717)
NAGA (4668)
ZAP70 (7535)
FAS (355), FASLG (356)
RMRP (6023)
CTNS (1497)
GALNS (2588)
DCLRE1C (64421), RAG1 (5896), RAG2 (5897)
GPC3 (2719)
GLB1 (2720)
COG4 (25839)
SLC29A3 (55315)
PEX6 (5190)
KLF1 (10661)
CASP10 (843)
ATP8B1 (5205)
ATP7B (540)
RBCK1 (10616)
BSCL2 (26580)
IDUA (3425)
PEX26 (55670)
CPT2 (1376)
RNASEH2A (10535)
TTC37 (9652)
ICOS (29851)
PEX3 (8504)
AGA (175)
IL7R (3575), PTPRC (5788)
G6PC3 (92579)
SUMF1 (285362)
CBS (875)
TMEM165 (55858)
ASAH1 (427)
STEAP3 (55240)
IDUA (3425)
BSCL2 (26580)
ADAMTSL2 (9719)
PEX2 (5828)
JAM3 (83700)
GNMT (27232)
GBA (2629)
PTRH2 (51651)
HBB (3043)
NLRP3 (114548)
NEU1 (4758)
SLC25A15 (10166)
MPC1 (51660)
CIDEC (63924)
TNFRSF1A (7132)
AKR1D1 (6718)
HADHA (3030)
THCYTX (84434)
IFT122 (55764)
TGFB1 (7040)
KCNH1 (3756)
GUSB (2990)
ERCC6 (2074)
IL2RG (3561)
FERMT3 (83706)
RFT1 (91869)
GUCY2D (3000)
LBR (3930)
TALDO1 (6888)
ACADVL (37)
HEXB (3074)
NPC2 (10577)
LCAT (3931)
VPS13A (23230)
IL2RA (3559)
GAA (2548)
TRIM37 (4591)
AP3B1 (8546)
PEX16 (9409)
ASS1 (445)
PKHD1 (5314)
IFT140 (9742)
PEX10 (5192)
TRMU (55687)
AMACR (23600)
HBG2 (3048)
STX11 (8676)
HBA2 (3040), HBA1 (3039)
GALE (2582)
PSMB8 (5696)
ALG1 (56052)
MMAA (166785)
LPIN2 (9663)
PTRF (284119)
SMPD1 (6609)
CASR (846)
PNPLA2 (57104)
DIS3L2 (129563)
HFE2 (148738)
LARS (51520)
HBB (3043), LCRB (387281)
SLC25A20 (788)
PHKA2 (5256)
GNE (10020)
GNS (2799)
FAM111A (63901)
MEFV (4210)
ACADM (34)
BTD (686)
MPV17 (4358)
FGA (2243), LYZ (4069), APOA1 (335)
IFT172 (26160)
FASTKD2 (22868), TACO1 (51204), COX20 (116228), SCO1 (6341), COX10 (1352), COX14 (84987), COX6B1 (1340), PET100 (100131801), APOPT1 (84334)
LIPA (3988)
TSFM (10102)
ASL (435)
VPS45 (11311)
HEXA (3073)
HMGCL (3155)
ABCC2 (1244)
ATP8B1 (5205)
ALG2 (85365)
FBN1 (2200)
DOLK (22845)
PEX12 (5193)
ARSB (411)
PRKCSH (5589), SEC63 (11231)
CPT1A (1374)
KTWS (791122)
ADA (100)
LCS1 (84565)
CD40LG (959)
CLDN1 (9076)
IFIH1 (64135)
COX4I2 (84701)
CTSK (1513)
CPT2 (1376)
ACOX1 (51)
MAN2B1 (4125)
LIG4 (3981)
MOGS (7841)
TNFRSF13B (23495)
PDGFRA (5156)
CD27 (939)
ABHD5 (51099)
MUT (4594)
INPPL1 (3636)
SLC37A4 (2542)
SLC17A5 (26503)
RMND1 (55005)
AUH (549)
DPM1 (8813)
inrinsic/extrinsic symptoms
Breast cancer, Burns, Filariasis, Gynecologic cancers

for child welling and tenderness in the abdomen and lymph no
vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); inc
include impaired growth; abnormal bone development (dysostosis
absorb fat, fat-soluble vitamins, malabsorption,blood clotting problems,rickets.
Portal vein thrombasis,portal hypertension,Seizures.
severe brain dysfunction,severe brain dysfunction (encephal
fever, diarrhea, vomiting, an abnormally enlarged liver (hepatomegaly), andyellowing of the skin a
high fevers, rheumatic rash, enlargement of the liver and spleen, enlargement of the lymph nodes
joint pain,knees, early-onset arthritis, and a waddling walk,mul

low levels of blood sugar (hypoglycemia),scarring (fibrosis) of the liver, failure to thrive, and cycli
caused by a mutation in RAB27A,pyogenic infection, enlargement of the liver and spleen, a low b
Bone damage and infections,Chronic infections in t
Treatments
Holistic medicine,acupunture,diuretics,benzopyrones,CDP(complete
Decongestive physiotherapy,CDT(Comphrehensive Decongestive
Therapy)
Antihistamines,hepatitis B
Allogeneic transplantation from an HLA-matched sibling or from an
unrelated donor or cord blood transplantation.
no cure to stop
Cholic acid replacement therapy,restoring vitamins A, D, E, and K.
sodium phenylbutyrate, a histone deacetylase inhibitor, resulted in significant clinical improvement and remission of seizures
riboflavin, glycine, or biotin.
nitisinone
celebrex,vollaren,ibuprofen,naproxen
Medical Therapy,Surgical Therapy,Knee,tibial tubercle, hypoplasia of

the femoral condyle, and subluxation of the patella .
Orthopedic issues in adults,Routine therapies,IV hydration and physical therapy
stem cell transplantation,
Antibiotics,interferon-gamma,Surgery
Export for
HP:0002240
ASSOCIATED INRINSIC/
DISEASE ID DISEASE NAME
GENES EXTRINSIC
NSD1 (64324),
CDKN1C (1028), H19
(283120),
BECKWITH-WIEDEMANN KCNQ1OT1 (10984),
OMIM:130650 SYNDROME H19-ICR (105259599) Intrinsic
BILE ACID SYNTHESIS DEFECT,

OMIM:613812 CONGENITAL, 3 CYP7B1 (9420) extrinsic
OSTEOPETROSIS, AUTOSOMAL
OMIM:615085 RECESSIVE 8 SNX10 (29887) Intrinsic
ATPASE DEFICIENCY,
OMIM:604273 NUCLEAR-ENCODED ATPAF2 (91647) extrinsic
PYRUVATE CARBOXYLASE
OMIM:266150 DEFICIENCY PC (5091) extrinsic
LYSINURIC PROTEIN
OMIM:222700 INTOLERANCE SLC7A7 (9056) intrinsic
COPROPORPHYRIA,
OMIM:121300 HEREDITARY CPOX (1371) extrinsic
BAND-LIKE CALCIFICATION
WITH SIMPLIFIED GYRATION
OMIM:251290 AND POLYMICROGYRIA OCLN (100506658) Intrinsic
OMIM:230900 GAUCHER DISEASE, TYPE II GBA (2629) intrinsic

ACRODERMATITIS
ENTEROPATHICA, ZINC-
OMIM:201100 DEFICIENCY TYPE SLC39A4 (55630) extrinsic
OMIM:214500 CHEDIAK-HIGASHI SYNDROME LYST (1130) extrinsic
OMIM:230000 FUCOSIDOSIS FUCA1 (2517) Intrinsic

OMIM:616278 CONGENITAL, 5 ABCD3 (5825) Intrinsic
GLYCOSYLPHOSPHATIDYLINOS
OMIM:610293 ITOL DEFICIENCY PIGM (93183) Intrinsic
CARNITINE DEFICIENCY,
OMIM:212140 SYSTEMIC PRIMARY SLC22A5 (6584) extrinsic
OMIM:276700 TYROSINEMIA, TYPE I FAH (2184) Intrinsic
SYSTEMIC-ONSET JUVENILE
OMIM:604302 EPIPHYSEAL DYSPLASIA,
IDIOPATHIC ARTHRITIS MIF (4282) extrinsic
MULTIPLE, WITH EARLY-ONSET
OMIM:226980 DIABETES MELLITUS EIF2AK3 (9451) extrinsic
CONGENITAL DISORDER OF
OMIM:614576 GLYCOSYLATION, TYPE IIL COG6 (57511) Intrinsic
OMIM:607624 GRISCELLI SYNDROME, TYPE 2 RAB27A (5873) Intrinsic

GRANULOMATOUS DISEASE,
CHRONIC, AUTOSOMAL
RECESSIVE, CYTOCHROME B-
OMIM:233700 POSITIVE,TYPE I NCF1 (653361) intrinsic
MUCOPOLYSACCHARIDOSIS
OMIM:309900 TYPE II IDS (3423) extrinsic
OMIM:607015 HURLER-SCHEIE SYNDROME IDUA (3425) extrinsic
DIHYDROLIPOAMIDE
OMIM:246900 DEHYDROGENASE DEFICIENCY DLD (1738) extrinsic
NIEMANN-PICK DISEASE, TYPE

OMIM:607616 B SMPD1 (6609) Intrinsic
SEA-BLUE HISTIOCYTE
OMIM:269600 DISEASE APOE (348) Intrinsic
MITOCHONDRIAL COMPLEX V
(ATP SYNTHASE) DEFICIENCY,
OMIM:614052 NUCLEAR TYPE 2 TMEM70 (54968) extrinsic
PEROXISOME BIOGENESIS
OMIM:614887 DISORDER 13A (ZELLWEGER) PEX14 (5195) Intrinsic
AUTOIMMUNE DISEASE,
MULTISYSTEM, WITH FACIAL
OMIM:613385 DYSMORPHISM ITCH (83737) extrinsic
OMIM:252900 TYPE IIIA SGSH (6448) Intrinsic
COMBINED SAPOSIN
OMIM:611721 DEFICIENCY PSAP (5660) extrinsic
OMIM:252500 MUCOLIPIDOSIS II ALPHA/BETA GNPTAB (79158) Intrinsic
LIPODYSTROPHY, CONGENITAL
OMIM:608594 GENERALIZED, TYPE 1 AGPAT2 (10555) extrinsic
RENAL-HEPATIC-PANCREATIC
OMIM:208540 DYSPLASIA NPHP3 (27031) Intrinsic
MYOPATHY, LACTIC ACIDOSIS,

OMIM:613561 AND SIDEROBLASTIC ANEMIA 2 YARS2 (51067) extrinsic
GLYCOGEN STORAGE DISEASE

OMIM:613027 IXC PHKG2 (5261) Intrinsic
ALPHA-1-ANTITRYPSIN
OMIM:613490 DEFICIENCY SERPINA1 (5265) extrinsic
OMIM:231670 GLUTARIC ACIDEMIA I GCDH (2639) Intrinsic
MULTIPLE CONGENITAL
ANOMALIES-HYPOTONIA-
OMIM:300868 SEIZURES SYNDROME 2 PIGA (5277) Intrinsic
OMIM:235200 HEMOCHROMATOSIS HFE (3077) extrinsic

COMBINED OXIDATIVE
PHOSPHORYLATION
OMIM:614582 DEFICIENCY 9 MRPL3 (11222) Intrinsic
CHOLESTASIS, PROGRESSIVE
OMIM:601847 FAMILIAL INTRAHEPATIC 2 ABCB11 (8647) extrinsic
AUTOIMMUNE
LYMPHOPROLIFERATIVE
OMIM:615559 SYNDROME, TYPE III PRKCD (5580) Intrinsic
LYMPHOPROLIFERATIVE
OMIM:308240 SYNDROME, X-LINKED, 1 SH2D1A (4068) Intrinsic
POLYARTERITIS NODOSA,
OMIM:615688 CHILDHOOD-ONSET CECR1 (51816) extrinsic
CC2D2A (57545),
TMEM67 (91147),
OMIM:216360 COACH SYNDROME RPGRIP1L (23322) Intrinsic
OMIM:306400 CHRONIC, X-LINKED CYBB (1536) extrinsic
FANCONI RENOTUBULAR
SYNDROME 4 WITH MATURITY-
ONSET DIABETES OF
OMIM:616026 THEYOUNG HNF4A (3172) Intrinsic
OMIM:300884 GLYCOSYLATION, TYPE IS ALG13 (79868) Intrinsic
DEHYDRATED HEREDITARY
STOMATOCYTOSIS WITH OR
WITHOUT
PSEUDOHYPERKALEMIAAND/O
OMIM:194380 R PERINATAL EDEMA PIEZO1 (9780) extrinsic
EPILEPSY, PYRIDOXINE-
OMIM:266100 DEPENDENT ALDH7A1 (501) extrinsic
MULTIPLE MITOCHONDRIAL
OMIM:614299 DYSFUNCTIONS SYNDROME 2 BOLA3 (388962) Intrinsic
OMIM:231005 GAUCHER DISEASE, TYPE IIIC GBA (2629) extrinsic
OMIM:252930 TYPE IIIC HGSNAT (138050) intrinsic
PERIPHERAL DEMYELINATING
NEUROPATHY, CENTRAL
DYSMYELINATION,
WAARDENBURGSYNDROME,
OMIM:609136 AND HIRSCHSPRUNG DISEASE SOX10 (6663) extrinsic

OMIM:232220 IB SLC37A4 (2542) extrinsic
OMIM:154800 MAST CELL DISEASE KIT (3815) intrinsic
OMIM:219700 CYSTIC FIBROSIS CFTR (1080) extrinsic
CHRONIC, AUTOSOMAL
OMIM:233710 POSITIVE,TYPE II NCF2 (4688) Intrinsic
HEME OXYGENASE 1
OMIM:614034 DEFICIENCY HMOX1 (3162) Intrinsic
LYMPHOPROLIFERATIVE
OMIM:613011 SYNDROME 1 ITK (3702) extrinsic
AUTOIMMUNE
LYMPHOPROLIFERATIVE
OMIM:616100 SYNDROME, TYPE V CTLA4 (1493) Intrinsic
OMIM:230500 GM1-GANGLIOSIDOSIS, TYPE I GLB1 (2720) extrinsic
HEMOPHAGOCYTIC
LYMPHOHISTIOCYTOSIS,
OMIM:603553 FAMILIAL, 2 PRF1 (5551) Intrinsic
OMIM:205400 TANGIER DISEASE ABCA1 (19) extrinsic

HYPERTRIGLYCERIDEMIA,
OMIM:614480 TRANSIENT INFANTILE GPD1 (2819) Intrinsic
OMIM:607196 MICROCEPHALY, AMISH TYPE SLC25A19 (60386) extrinsic

OMIM:170100 PROLIDASE DEFICIENCY PEPD (5184) Intrinsic
OMIM:602347 FAMILIAL INTRAHEPATIC, 3 ABCB4 (5244) extrinsic
INTERSTITIAL LUNG AND LIVER

OMIM:615486 DISEASE MARS (4141) Intrinsic
TYLOSIS WITH ESOPHAGEAL

OMIM:148500 CANCER RHBDF2 (79651) extrinsic
LIPODYSTROPHY, FAMILIAL
OMIM:151660 PARTIAL, TYPE 2 LMNA (4000) Intrinsic

OMIM:257220 C1 NPC1 (4864) extrinsic
ANEMIA, CONGENITAL
OMIM:615631 DYSERYTHROPOIETIC, TYPE IB C15ORF41 (84529) Intrinsic
HYPERMANGANESEMIA WITH
DYSTONIA, POLYCYTHEMIA,
OMIM:613280 AND CIRRHOSIS SLC30A10 (55532) Intrinsic
METHYLMALONIC ACIDURIA,
OMIM:251110 CBLB TYPE MMAB (326625) Intrinsic
PCCA (5095), PCCB

OMIM:606054 PROPIONIC ACIDEMIA (5096) Intrinsic

OMIM:232700 VI PYGL (5836) Intrinsic
COCKAYNE SYNDROME, TYPE
OMIM:216400 A ERCC8 (1161) extrinsic
CHRONIC, AUTOSOMAL
OMIM:233690 NEGATIVE CYBA (1535) extrinsic
HEMOPHAGOCYTIC
LYMPHOHISTIOCYTOSIS,
OMIM:267700 FAMILIAL, 1 HPLH1 (27259) extrinsic
OMIM:215140 GREENBERG DYSPLASIA LBR (3930) extrinsic
OMIM:607330 LATHOSTEROLOSIS SC5D (6309) extrinsic
OMIM:203800 ALSTROM SYNDROME ALMS1 (7840) extrinsic

OMIM:261750 IXB PHKB (5257) Intrinsic
AICARDI-GOUTIERES
OMIM:225750 SYNDROME 1 TREX1 (11277) Intrinsic
MEGALOBLASTIC ANEMIA DUE
TO DIHYDROFOLATE
OMIM:613839 REDUCTASE DEFICIENCY DHFR (1719) Intrinsic
OMIM:231000 GAUCHER DISEASE, TYPE III GBA (2629) Intrinsic
OMIM:610377 MEVALONIC ACIDURIA MVK (4598) Intrinsic
OSTEOMYELITIS, STERILE
MULTIFOCAL, WITH
OMIM:612852 PERIOSTITIS AND PUSTULOSIS IL1RN (3557) Intrinsic
D-BIFUNCTIONAL PROTEIN
OMIM:261515 DEFICIENCY HSD17B4 (3295) Intrinsic
FRUCTOSE INTOLERANCE,
OMIM:229600 HEREDITARY ALDOB (229) Intrinsic
CHOLESTASIS, BENIGN
OMIM:605479 RECURRENT INTRAHEPATIC, 2 ABCB11 (8647) extrinsic
MITOCHONDRIAL DNA
DEPLETION SYNDROME 3
OMIM:251880 (HEPATOCEREBRAL TYPE) DGUOK (1716) Intrinsic
TRICHOHEPATOENTERIC
OMIM:614602 SYNDROME 2 SKIV2L (6499) extrinsic
RAS-ASSOCIATED
AUTOIMMUNE
LEUKOPROLIFERATIVE
OMIM:614470 DISORDER NRAS (4893) Intrinsic
MITOCHONDRIAL DNA
DEPLETION SYNDROME 4A
OMIM:203700 (ALPERS TYPE) POLG (5428) Intrinsic
MANDIBULAR HYPOPLASIA,
DEAFNESS, PROGEROID
FEATURES, AND
OMIM:615381 LIPODYSTROPHYSYNDROME POLD1 (5424) extrinsic

OMIM:232200 IA G6PC (2538) extrinsic
OMIM:212065 GLYCOSYLATION, TYPE IA PMM2 (5373) extrinsic
FRUCTOSE-1,6-
OMIM:229700 BISPHOSPHATASE DEFICIENCY FBP1 (2203) Intrinsic
COMBINED OXIDATIVE
PHOSPHORYLATION
OMIM:609060 DEFICIENCY 1 GFM1 (85476) intrinsic
OSTEOPETROSIS, AUTOSOMAL
OMIM:259700 RECESSIVE 1 TCIRG1 (10312) extrinsic
SHWACHMAN-DIAMOND
OMIM:260400 SYNDROME SBDS (51119) Intrinsic
GAUCHER DISEASE, PERINATAL

OMIM:608013 LETHAL GBA (2629) extrinsic
OMIM:614727 GLYCOSYLATION, TYPE IIK TMEM165 (55858) Intrinsic
FARBER
OMIM:228000 LIPOGRANULOMATOSIS ASAH1 (427) extrinsic
ANEMIA, HYPOCHROMIC
MICROCYTIC, WITH IRON
OMIM:615234 OVERLOAD 2 STEAP3 (55240) Intrinsic
OMIM:607016 SCHEIE SYNDROME IDUA (3425) extrinsic
ENCEPHALOPATHY,
PROGRESSIVE, WITH OR
OMIM:615924 WITHOUT LIPODYSTROPHY BSCL2 (26580) Intrinsic
OMIM:231050 GELEOPHYSIC DYSPLASIA 1 ADAMTSL2 (9719) Intrinsic
OMIM:614866 DISORDER 5A (ZELLWEGER) PEX2 (5828) extrinsic
HEMORRHAGIC DESTRUCTION
OF THE BRAIN,
SUBEPENDYMAL
CALCIFICATION,AND
OMIM:613730 CATARACTS JAM3 (83700) extrinsic
GLYCINE N-
METHYLTRANSFERASE
OMIM:606664 DEFICIENCY GNMT (27232) extrinsic
OMIM:230800 GAUCHER DISEASE, TYPE I GBA (2629) extrinsic
OMIM:603903 SICKLE CELL ANEMIA HBB (3043) intrinsic
OMIM:607115 CINCA SYNDROME NLRP3 (114548) Intrinsic
GALACTOSE EPIMERASE
OMIM:230350 DEFICIENCY GALE (2582) Intrinsic
AUTOINFLAMMATION,
LIPODYSTROPHY, AND
OMIM:256040 DERMATOSIS SYNDROME PSMB8 (5696) Intrinsic
OMIM:608540 GLYCOSYLATION, TYPE IK ALG1 (56052) extrinsic
METHYLMALONIC ACIDURIA,
OMIM:251100 CBLA TYPE MMAA (166785) extrinsic
OMIM:609628 MAJEED SYNDROME LPIN2 (9663) extrinsic
OMIM:613327 GENERALIZED, TYPE 4 PTRF (284119) extrinsic

OMIM:257200 A SMPD1 (6609) intrinsic
HYPERPARATHYROIDISM,
OMIM:239200 NEONATAL SEVERE PRIMARY CASR (846) intrinsic
NEUTRAL LIPID STORAGE

OMIM:610717 DISEASE WITH MYOPATHY PNPLA2 (57104) intrinsic
OMIM:267000 PERLMAN SYNDROME DIS3L2 (129563) intrinsic
OMIM:602390 HEMOCHROMATOSIS, TYPE 2A HFE2 (148738) extrinsic
HBB (3043), LCRB

OMIM:613985 BETA-THALASSEMIA (387281) extrinsic
CARNITINE-ACYLCARNITINE
OMIM:212138 TRANSLOCASE DEFICIENCY SLC25A20 (788) extrinsic

OMIM:306000 IXA PHKA2 (5256) Intrinsic
OMIM:269921 SIALURIA GNE (10020) intrinsic
MUCOPOLYSACCHARIDOSIS,
OMIM:252940 TYPE IIID GNS (2799) Intrinsic
OMIM:602361 GRACILE BONE DYSPLASIA FAM111A (63901) extrinsic
FAMILIAL MEDITERRANEAN
OMIM:249100 FEVER MEFV (4210) extrinsic
AMYLOIDOSIS, FAMILIAL FGA (2243), LYZ
OMIM:105200 VISCERAL (4069), APOA1 (335) intrinsic
SHORT-RIB THORACIC
DYSPLASIA 10 WITH OR
OMIM:615630 WITHOUT POLYDACTYLY IFT172 (26160) intrinsic
FASTKD2 (22868),
TACO1 (51204),
COX20 (116228),
SCO1 (6341), COX10
(1352), COX14
(84987), COX6B1
(1340), PET100
MITOCHONDRIAL COMPLEX IV (100131801),
OMIM:220110 DEFICIENCY APOPT1 (84334) extrinsic
LYSOSOMAL ACID LIPASE
OMIM:278000 DEFICIENCY LIPA (3988) intrinsic
OMIM:207900 ARGININOSUCCINIC ACIDURIA ASL (435) intrinsic
OMIM:272800 TAY-SACHS DISEASE HEXA (3073) intrinsic
OMIM:237500 DUBIN-JOHNSON SYNDROME ABCC2 (1244) intrinsic

OMIM:211600 FAMILIAL INTRAHEPATIC 1 ATP8B1 (5205) intrinsic
OMIM:607906 GLYCOSYLATION, TYPE II ALG2 (85365) intrinsic
OMIM:614185 GELEOPHYSIC DYSPLASIA 2 FBN1 (2200) extrinsic
OMIM:610768 GLYCOSYLATION, TYPE IM DOLK (22845) extrinsic
OMIM:253200 TYPE VI ARSB (411) extrinsic
PRKCSH (5589),
OMIM:174050 POLYCYSTIC LIVER DISEASE SEC63 (11231) extrinsic
CARNITINE
PALMITOYLTRANSFERASE I
OMIM:255120 DEFICIENCY CPT1A (1374) intrinsic
KLIPPEL-TRENAUNAY-WEBER
OMIM:149000 SYNDROME KTWS (791122) extrinsic
SEVERE COMBINED
IMMUNODEFICIENCY,
AUTOSOMAL RECESSIVE, T
CELL-NEGATIVE,B CELL-
NEGATIVE, NK CELL-NEGATIVE,
DUE TO ADENOSINE
OMIM:102700 DEAMINASE DEFICIENCY ADA (100) extrinsic
CHOLESTASIS-LYMPHEDEMA
OMIM:214900 SYNDROME LCS1 (84565) extrinsic
IMMUNODEFICIENCY WITH
OMIM:308230 HYPER-IGM, TYPE 1 CD40LG (959) intrinsic
ICHTHYOSIS, LEUKOCYTE
VACUOLES, ALOPECIA, AND
OMIM:607626 SCLEROSING CHOLANGITIS CLDN1 (9076) extrinsic
AICARDI-GOUTIERES
OMIM:615846 SYNDROME 7 IFIH1 (64135) intrinsic
EXOCRINE PANCREATIC
INSUFFICIENCY,
DYSERYTHROPOIETIC ANEMIA,
AND
OMIM:612714 CALVARIALHYPEROSTOSIS COX4I2 (84701) extrinsic
OMIM:265800 PYCNODYSOSTOSIS CTSK (1513) intrinsic
CARNITINE
PALMITOYLTRANSFERASE II
OMIM:600649 DEFICIENCY, INFANTILE CPT2 (1376) intrinsic
PEROXISOMAL ACYL-COA
OMIM:264470 OXIDASE DEFICIENCY ACOX1 (51) extrinsic
MANNOSIDOSIS, ALPHA B,
OMIM:248500 LYSOSOMAL MAN2B1 (4125) intrinsic
OMIM:606593 LIG4 SYNDROME LIG4 (3981) intrinsic
OMIM:606056 GLYCOSYLATION, TYPE IIB MOGS (7841) intrinsic
IMMUNODEFICIENCY, COMMON
OMIM:240500 VARIABLE, 2 TNFRSF13B (23495) extrinsic
CHANARIN-DORFMAN
OMIM:275630 SYNDROME ABHD5 (51099) extrinsic
METHYLMALONIC ACIDURIA
DUE TO METHYLMALONYL-COA
OMIM:251000 MUTASE DEFICIENCY MUT (4594) extrinsic
OMIM:258480 OPSISMODYSPLASIA INPPL1 (3636) intrinsic

OMIM:232240 IC SLC37A4 (2542) extrinsic
INFANTILE SIALIC ACID

OMIM:269920 STORAGE DISORDER SLC17A5 (26503) extrinsic
COMBINED OXIDATIVE
PHOSPHORYLATION
OMIM:614922 DEFICIENCY 11 RMND1 (55005) intrinsic
OMIM:608799 GLYCOSYLATION, TYPE IE DPM1 (8813) extrinsic
MITOCHONDRIAL PYRUVATE
OMIM:614741 CARRIER DEFICIENCY MPC1 (51660) extrinsic
LIPODYSTROPHY, FAMILIAL
OMIM:615238 PARTIAL, TYPE 5 CIDEC (63924) intrinsic
PERIODIC FEVER, FAMILIAL,

OMIM:142680 AUTOSOMAL DOMINANT TNFRSF1A (7132) extrinsic

OMIM:235555 CONGENITAL, 2 AKR1D1 (6718) Intrinsic
LONG-CHAIN 3-HYDROXYACYL-
COA DEHYDROGENASE
OMIM:609016 DEFICIENCY HADHA (3030) Intrinsic
THROMBOCYTOSIS, FAMILIAL
OMIM:300331 X-LINKED THCYTX (84434) extrinsic
CRANIOECTODERMAL
OMIM:218330 DYSPLASIA 1 IFT122 (55764) Intrinsic
CAMURATI-ENGELMANN
OMIM:131300 DISEASE TGFB1 (7040) extrinsic
ZIMMERMANN-LABAND
OMIM:135500 SYNDROME 1 KCNH1 (3756) Intrinsic
OMIM:253220 TYPE VII GUSB (2990) Intrinsic
COCKAYNE SYNDROME, TYPE

OMIM:133540 B ERCC6 (2074) extrinsic
OMIM:252920 TYPE IIIB NAGLU (4669) Intrinsic
MULTIPLE ACYL-COA ETFA (2108), ETFB

OMIM:231680 DEHYDROGENASE DEFICIENCY (2109), ETFDH (2110) Intrinsic
OMIM:312750 RETT SYNDROME MECP2 (4204) extrinsic

OMIM:607765 CONGENITAL, 1 HSD3B7 (80270) extrinsic
OMIM:230400 GALACTOSEMIA GALT (2592) Intrinsic

OMIM:266510 DISORDER 3B PEX12 (5193) Intrinsic
OMIM:616217 NEPHRONOPHTHISIS 19 DCDC2 (51473) Intrinsic
OMIM:191900 MUCKLE-WELLS SYNDROME NLRP3 (114548) Intrinsic
OMIM:263300 POLYCYTHEMIA VERA JAK2 (3717) Intrinsic

OMIM:609241 SCHINDLER DISEASE, TYPE I NAGA (4668) extrinsic
OMIM:269840 SELECTIVE T-CELL DEFECT ZAP70 (7535) extrinsic
AUTOIMMUNE
LYMPHOPROLIFERATIVE FAS (355), FASLG
OMIM:601859 SYNDROME (356) Intrinsic
OMIM:250250 CARTILAGE-HAIR HYPOPLASIA RMRP (6023) extrinsic
OMIM:219800 CYSTINOSIS, NEPHROPATHIC CTNS (1497) Intrinsic

MUCOPOLYSACCHARIDOSIS,
OMIM:253000 TYPE IVA GALNS (2588) extrinsic
DCLRE1C (64421),
RAG1 (5896), RAG2
OMIM:603554 OMENN SYNDROME (5897) Intrinsic
SIMPSON-GOLABI-BEHMEL
OMIM:312870 SYNDROME, TYPE 1 SC5D (6309) extrinsic
OMIM:253010 TYPE IVB GLB1 (2720) extrinsic
OMIM:613489 GLYCOSYLATION, TYPE IIJ COG4 (25839) intrinsic
HISTIOCYTOSIS-
LYMPHADENOPATHY PLUS
OMIM:602782 SYNDROME SLC29A3 (55315) extrinsic
ANEMIA, DYSERYTHROPOIETIC
OMIM:613673 CONGENITAL, TYPE IV KLF1 (10661) extrinsic
AUTOIMMUNE
LYMPHOPROLIFERATIVE
OMIM:603909 SYNDROME, TYPE IIA CASP10 (843) Intrinsic
CHOLESTASIS, BENIGN
OMIM:243300 RECURRENT INTRAHEPATIC 1 ATP8B1 (5205) Intrinsic
OMIM:277900 WILSON DISEASE ATP7B (540) extrinsic
MULTIPLE SULFATASE
OMIM:272200 DEFICIENCY SUMF1 (285362) Intrinsic
HOMOCYSTINURIA DUE TO
CYSTATHIONINE BETA-
OMIM:236200 SYNTHASE DEFICIENCY CBS (875) extrinsic
MULTIPLE SULFATASE
OMIM:272200 DEFICIENCY SUMF1 (285362) extrinsic
POLYGLUCOSAN BODY
MYOPATHY, EARLY-ONSET,
WITH OR WITHOUT
OMIM:615895 IMMUNODEFICIENCY RBCK1 (10616) intrinsic
OMIM:269700 GENERALIZED, TYPE 2 BSCL2 (26580) intrinsic
OMIM:607014 HURLER SYNDROME IDUA (3425) extrinsic
OMIM:614872 DISORDER 7A (ZELLWEGER) PEX26 (55670) intrinsic
CARNITINE
PALMITOYLTRANSFERASE II
DEFICIENCY, LETHAL
OMIM:608836 NEONATAL CPT2 (1376) extrinsic
AICARDI-GOUTIERES
OMIM:610333 SYNDROME 4 RNASEH2A (10535) intrinsic
TRICHOHEPATOENTERIC
OMIM:222470 SYNDROME 1 TTC37 (9652) intrinsic
IMMUNODEFICIENCY, COMMON
OMIM:607594 VARIABLE, 1 ICOS (29851) intrinsic
OMIM:614882 DISORDER 10A (ZELLWEGER) PEX3 (8504) intrinsic
SEVERE COMBINED
IMMUNODEFICIENCY,
AUTOSOMAL RECESSIVE, T
CELL-NEGATIVE,B CELL- IL7R (3575), PTPRC
OMIM:608971 POSITIVE, NK CELL-POSITIVE (5788) extrinsic
OMIM:208400 ASPARTYLGLUCOSAMINURIA AGA (175) extrinsic
BWS is caused by various epigenetic
SYMPTOMS
and/or genetic alterations that dysregulate
imprinted genes on chromosome
11p15.5. Molecular subgroups are
Stunted
associatedor abnormal growth.
with different recurrence risks
Diarrhea.
and different clinical findings (e.g. tumor
Loss of liver
risks).Low functStunted
blood or abnormal
sugar (hypoglycemia)
growth.
Diarrhea.
Loss of liver f
disease (CGD). It is also used to slow

down the progression of severe,
malignant osteopetrosis (SMO). Interferon
gamma ...
cryptorchidism,hypospadias,microcephaly
,low-set ears
abdominal pain, vomiting, tiredness and
muscle weakness. Children with this type
of PC deficiency usually die in infancy or
early childhood, but some survive to
adulthood.
psychotic episodes,osteoporosis,cutis
laxa
Management includes the suppression of
triggering factors, relief from pain
(opiates), vomiting and anxiety, and the
prevention of attacks (by avoiding
triggering factors, particularly drugs).
Treatment is symptomatic only.

The treatment does not seem to have an
effect on neurological manifestations and
is therefore not indicated for patients with
GD type 2.
vision problems such as reduced

for child welling and tenderness in the
sharpness; rapid, involuntary eye
abdomen and lymph nodes,jaundice
movements (nystagmus); increased
sensitivity to light (photophobia),Chediak-
Higashi syndrome have problems with
blood clotting (coagulation) that lead to
easy bruising and abnormal bleeding.
include impaired growth; abnormal bone

development (dysostosis multiplex);
seizures; abnormal muscle stiffness
(spasticity); clusters of enlarged blood
vessels forming small, dark red spots on
the skin (angiokeratomas); distinctive
facial features.
absorb fat, fat-soluble vitamins,
malabsorption,blood clotting
problems,rickets.
severe brainthrombasis,portal
Portal vein dysfunction,severe brain
dysfunction (encephalopathy),
hypertension,Seizures. a
weakened and enlarged heart
(cardiomyopathy), confusion, vomiting,
muscle weakness, and low blood sugar
(hypoglycemia)
fever, diarrhea, vomiting, an
abnormally enlarged liver (hepatomegaly),
andyellowing of the skin and the whites of
the eyes
high fevers, rheumatic rash, enlargement

of the liver and spleen, enlargement of the
joint
lymph pain,knees, early-onset arthritis, and
nodes, and anemia.
a waddling walk,multiple epiphyseal
dysplasia
low levels of blood sugar
(hypoglycemia),scarring (fibrosis) of the
caused by a mutation in
liver, failure to thrive, and cyclic vomiting
RAB27A,pyogenic infection, enlargement
of the liver and spleen, a low blood
neutrophil level, low blood platelet level,
and immunodeficiency.
Bone damage and infections,Chronic

infections in the nose
Hunter syndrome such as
abdominal hernias, ear
infections, runny noses, and colds.
the brain, heart, joints, skeleton
respiratory tract and liver, as well as
vision and hearing.
hyperventilation, vomiting, and
abdominal pain, occasionally resulting in
death
Difficulty moving limbs,Enlarged
spleen.Enlarged liver,Seizures
Abnormality of coagulation,Mediastinal
lymphadenopathy, Subcutaneous
hemorrhage.
characterized by early neonatal onset of

hypotonia, hypetrophic cardiomyopathy
and apneic spells within hours after birth
accompanied by lactic acidosis,
hyperammonemia and 3-methylglutaconic
aciduria.
Feeding and nutrition,Hearing,Vision,liver

joints are affected, blood is affected
Dense calvaria,Diarrhea,Growth
abnormality,Asymmetric septal
hypertrophy
bnormality of eye movement, muscular
hypotonia, dystonia,splenomegaly
Hoarse voice,hearing
loss,diarrhea,itch,rash,pain,nausea,heada
che
hearing loss, limited mental ability,

Absence
epilepsy, of sensory weakness
or muscle complaints or
paresthesias; however, deep tendon
Brain cyst,Hydrocephalus,Abnormal
reflexes (DTRs) may be
Kidney development,Abnormal
diminished/absent Liver
in hypokalemic
Development,Abnormal
paralysis.Symmetric Pancreatic
proximal muscle
Development,Liver fibrosis,Cystic
weakness,Malaise, fatigue,Dark-colored
Kidneys.
urine (suggests myoglobinuria) and/or
fever.Absence of sensory complaints or
diminished/absent in hypokalemic
paralysis.
Liver phosphorylase, kinase
deficiency,Reduced muscle tone,enlarged
liver,liver dysfunction
Shortness of
breath,Cough,Wheezing,Chest infections
poor feeding or loss of appetite,lack of
energy,abnormal movements,abnormal
movements,irritability,breathing
difficulties.
absence of sensory complaints or

diminished/absent in hypokalemic
paralysis.Symmetric proximal muscle
weakness,Malaise, fatigue,Dark-colored
urine (suggests myoglobinuria) and/or
fever.Absence of s
joint pain,fatigue, general weakness,
weight loss, and stomach pain
Abdominal ascites
Abdominal ascites
Kidney tubulopathy,reduced muscle
tone,abdominal ascites
cholestasis, jaundice, and failure to thrive.

nephrotic syndrome,autoimmune
thrombocytopenia,hepatomegaly,
lymphadenopathy.
asymptomatic,fulminating or fatal
infectious mononucleosis,liver failure,B-
cell lymphomas,aplastic anemia,
hypogammaglobulinemia.
sudden weight loss,a decreased
appetite,abdominal pain,excessive
fatigue,muscle and joint aches,fever
mental retardation, liver problems
(fibrosis), and difficulty with movement
( ataxia ),abnormality of the eye (called a
coloboma) or abnormal eye movements
(such as nystagmus ).
Pneumonia,bacterial or fungal
infections,wounds,
muscle weakness,hearing
abnormality,central hypotonia,respiratory
tract infection.
Passing increased amount of urine,Pain

in the bones,Weakness.
low levels of blood sugar (hypoglycemia),

scarring (fibrosis) of the liver, failure to
thrive, and cyclic vomiting.
jaundice,pallor,cholelithiasis,hepatomegal
y
body temperature (hypothermia), poor muscle tone (dystonia) soon after birth
Decreased activity of mitochondrial
respiratory chain,Failure to
thrive,Abnormality of mitochondrial
metabolism
Easy
bruising,Nosebleeds,Fatigue,Enlarged
spleen or liver, which makes your belly
look swollen
Asymmetric septal hypertrophy,Coarse
facial features,Dense
calvariaDolichocephaly,Dysostosis
multiplex.
Temperature, pain, vibration or touch,

from the skin,Sharp, jabbing, throbbing,
freezing or burning pain,Lack of
coordination and falling,Muscle
weakness.
enlarged liver, swollen abdomen, delayed

or stunted growth, irritability, and
seizures.
pruritus,flushing, nausea, vomiting, diarrh
oea, abdominal pain, vascular instability
and anaphylaxis. Also, complications may
arise when mast cells accumulate in the
skin, gastrointestinal tract, bone marrow,
liver, spleen, and lymph nodes.
Coughing up thick mucus,Wheezing or shortness of breath,Growths, called polyps, in the nose,Bulky, oily, or foul-smelling stoo
pneumonia,abscesses of the skin, tissues, and organs,suppurative arthritis,osteomyelitis,superficial skin infections such as cell
proteinuria,hematuria,growth
delay,hemolytic anemia,hepatomegaly.
high numbers of white blood cells called

lymphocytes accumulate in the lymph
nodes, liver, and spleen, which can lead
to enlargement of these organs. ALPS
can cause numerous autoimmune
problems such as anemia (low count of
red blood cells), thrombocytopenia (low
count of platelets), and neutropenia (low
count of neutrophils, the most common
type of white blood cell in humans).
high numbers of white blood cells called
lymphocytes accumulate in the lymph
nodes, liver, and spleen, which can lead
to enlargement of these organs. ALPS
can cause numerous autoimmune
problems such as anemia (low count of
red blood cells), thrombocytopenia (low
count of platelets), and neutropenia (low
count of neutrophils, the most common
type of white blood cell in humans).
Differential diagnosis includes

mucopolysaccharidoses, sphingolipidoses
and oligosaccharidoses
Low or absent NK (natural killer) cell

function,Prolonged fever.Blood cell
abnormalities,Enlarged spleen.Increased
triglycerides (fat) or decreased fibrinogen
(protein necessary for clotting) in the
blood.Increased ferritin (protein that
stores iron) in the blood.
the liver, spleen and lymph nodes may

become enlarged. Brain dysfunction, loss
of tendon reflexes and coronary artery
disease may also occur. In some cases,
small solid elevated skin lesions (papules)
may also appear
hypertriglyceridemia,hepatic steatosis,
hepatic
Balancefibrosis
and coordination
problems,Developmental delays (delayed
Diarrhea, vomiting, and dehydration may
sitting, standing, walking),Trouble
also occur, Affected individuals may have
swallowing and
enlargement problems
of the spleenwith feeding,
Hyperactivity (trouble
(splenomegaly); paying
in some attention
cases, or
both the
sitting still).
spleen and liver are enlarged
(hepatosplenomegaly).
Patients usually present in early childhood

with cholestasis, jaundice, and failure to
thrive.
Abdominal pain,DiarrheaFatigue,,Loss of
appetiteMuscle pain
Abnormality of the
intestine,Gastrointestinal
hemorrhage,Abnormality of the
mediastinum
cerebellar ataxia (unsteady walking with
partial lipodystrophy,
uncoordinated severe insulin
limb movements),
resistance,(slurred
dysarthria fatty liver, acanthosis
speech), dysphagia
nigricans,inand
(difficulty diabetes tremor, epilepsy
swallowing),
(both partial and generalized), vertical
supranuclear palsy (upgaze palsy,
downgaze palsy, saccadic palsy or
paralysis
CDA is one of many types of anemia,

characterized by ineffective
erythropoiesis, and resulting from a
decrease in the number of red blood cells
(RBCs) in the body and a less than
normal quantity of hemoglobin in the
blood.
can appear in childhood (early-onset),

typically between ages 2 and 15, or in
adulthood (adult-onset),Other
neurological symptoms in affected
children include involuntary trembling
(tremor), unusually slow movement
(bradykinesia), and slurred speech
(dysarthria)
Inflammation of the pancreas
(pancreatitis),Increased acid in the blood
(metabolic acidosis),Feeding
difficulties,Breathing difficulties,Intellectual
disabilities
The initial symptoms include poor feeding,

vomiting, loss of appetite, weak muscle
tone (hypotonia), and lack of energy
(lethargy).
The first sign is usually an enlarged liver

(hepatomegaly). Affected individuals may
also have low blood sugar (hypoglycemia)
or a buildup of lactic acid in the body
(lactic acidosis) during prolonged periods
without food (fasting
Abnormal auditory evoked
potentials,Abnormality of the
hair,Abnormality of visual evoked
potentials,Arrhythmia,Atypical scarring of
skin.
inflammation of the lymph glands

(suppurative lymphadenitis), skin
infections, and pneumonia. Blood studies
can show evidence of chronic infection
Enlarged liver and/or spleen,Breathing
problems,Kidney abnormalities,Heart
problems,Increased risk for certain
cancers (leukemia, lymphoma)
Abnormal bone calcification,Severe
hydrops,Poor skull calcification,Red blood
cell disorder,Increased maternal blood
pressure
Liver disease ,Mental retardation,

Congenital malformations, Small head,
Unusual facial appearance, Extra little
toe, Webbed toes, Severe psychomotor
delay, Reduced muscle tone, Corneal
clouding, Enlarged gums, Enlarged liver,
Enlarged spleen, Genital anomalies,
Neurological symptoms, Myoclonus,
White matter demyelination.,Brain
(cerebral) calcification ,Receding
forehead, Anteverted nostrils, Small jaw,
Prominent upper lip,High arched palate,
Cleft palate,Craniofacial defects.
vision and hearing abnormalities, and

obesity in
childhood, insulin resistance, diabetes me
llitus, heart disease (dilated
cardiomyopathy) and slowly progressive
kidney (renal) dysfunction, potentially
leading to renal failure.
Differential diagnoses include other

glycogen storage diseases such as GSD
due to liver phosphorylase deficiency
(GSD type VI), GSD due to glycogen
debranching enzyme deficiency (GSD
type III), and GSD due to glucose-6-
phosphatase (GSD type I) (see these
terms).
Hepatomegaly,Abnormality of
extrapyramidal motor function ,Autosomal
dominant inheritance,Chronic CSF
lymphocytosis,Deep white matter
hypodensities
due to a homozygous DHFR mutation
causesmegaloblastic anemia and cerebral
folate deficiency leading to severe
neurologic disease
Ophthalmoparesis,Increased bone
mineral
density,Osteolysis,Splenomegaly,Aseptic
necrosis.
Failure to thrive,Reduced muscle tone
large
fontanelles,microcephaly,dolichocephaly,
muscular hypotonia.
hypotonia (low muscle tone) and seizures

within the first month of life, vision and
hearing problems, distinct facial features,
and developmental delay.
Onset of symptoms after starting an infant

on food or formula,Poor feeding as a
baby,Irritability,Avoidance of fruits and
fructose/sucrose-containing foods.
drug-induced cholestatic disease as well

as intrahepatic cholestasis of pregnancy,
primary biliary cirrhosis and primary
sclerosing cholangitis (see these terms).
BRIC can be differentiated from PFIC on
the basis of the disease course and liver
histology
including hypotonia, hypoglycemia,
persistent vomiting, and failure to thrive
within the first year of life. Mutations
in three genes have been linked to
hepatopathic
Insomnia,Depressed mood,Anxious mood,Fatigue,Pain
The autoimmune phenotype can present

in childhood or adulthood and primarily
includes autoimmune hemolytic
anemia, ITP, and neutropenia. Some
patients have a history of
recurrentrespiratory tract infections. It is
unclear if increased risk for malignancy is
part of RALD.
intractable epilepsy,areflexiaof onset. The
most common cause of death is
pulmonary infection. Only a few patients
have survived to late childhood and
adolescence.
mandibular hypoplasia (a small lower

jaw),
ast-induced hypoglycemia (tremors,

seizures, cyanosis, and apnea). Patients
present disturbed glucose homeostasis
usually characterized by poor tolerance to
fasting, significant hepatomegaly
(sometimes eight to ten cm below the
right costal margin), growth retardation
(short stature and delayed puberty),
generally improved by an appropriate diet,
osteopenia and, in some cases,
osteoporosis, round doll-like facial
appearance with full cheeks, mild
hypotonia, nephromegaly, and platelet
dysfunction that may lead to frequent
epistaxis. Diarrhea may be encountered.
Late complications are hepatic
(adenomas with rare but possible
transformation into hepatocellular
carcinoma) and renal (glomerular
hyperfiltration leading to proteinuria and
sometimes to renal failure), but also
include anemia, sometimes severe, and a
risk of hypoglycemic brain damage.
Pulmonary hypertension has been
reported in few cases.
MGAT2-CDG is a form of congenital

disorders of N-linked glycosylation
characterized by facial dysmorphism
(large, posteriorly rotated ears with
prominent antihelices, convex nasal ridge,
open mouth, large and crowded teeth),
stereotypic hand movements, seizures,
and varying degrees of developmental
delay. A bleeding tendency is also
observed and this results from diminished
platelet aggregation. The disease is
caused by loss-of-function mutations in
the gene MGAT2
Hepatomegaly, Hyperventilation,
Hypoglycemia, Irritability.
A number sign (#) is used with this entry

because combined oxidative
phosphorylation deficiency-10
(COXPD10) is caused by homozygous or
compound heterozygous mutation in the
MTO1 gene (614667) on chromosome
low blood cell production, and loss of

cranial nerve function causing blindness,
deafness, and/or facial nerve paralysis.
Affected individuals may experience
frequent infections of teeth and the bone
in the jaw.
Chronic, often greasy and foul-smelling
diarrhea.
Abdominal complaints. Because the liver

Common neurological symptoms include
and especially the spleen can enlarge
diminished muscle tone (hypotonia),
dramatically, the abdomen can become
seizures, deficits in attaining
painfully distended,Skeletal abnormalities.
developmental milestones (developmental
Gaucher's disease can weaken bone,
disability), varying degrees of cognitive
increasing the risk of painful fractures. It
impairment, and underdevelopment of the
can also interfere with the blood supply to
cerebellum (cerebellar hypoplasia), which
your bones, which can cause portions of
can cause problems with balance and
the bone to die,Blood disorders. A
coordination. Additional common
decrease in healthy red blood cells
symptoms include abnormal fat
(anemia) can result in severe fatigue.
distribution, defects in blood clotting that
Gaucher's disease also affects the cells
can cause abnormal bleeding or clotting
responsible for clotting, which can cause
(coagulation defects), gastrointestinal
easy bruising and nosebleeds.
symptoms such as vomiting and diarrhea,
eye abnormalities such as crossed eyes
(strabismus) and retinal degeneration,
and abnormal or distinctive facial features
(facial dysmorphism).liver abnormalities,
heart abnormalities such as disease of
The liver, heart and kidneys may
the heart muscle (cardiomyopathy), also be
affected.
stroke-likeOther symptoms
episodes, may
and excessive loss
includevomiting, arthritis, swollen lymph
of proteins from the gastrointestinal tract
nodes, swollenenteropathy),
(protein-losing joints, which can
joint contractures (chronic
cause swelling due to fluid shortening
retention of
muscles
(edema).or tendons around
joints), hoarseness and xanthomas which
thicken around joints as the disease
progresses. Patients with breathing
difficulty may require a breathing tube.
Fatigue and diminished capability to
perform hard labor,Dysphagia with solid
foods (from esophageal
webbing),Worsened symptoms of
comorbid cardiac or pulmonary
disease,Cold intolerance,Craving ice (in
some cases, cold celery or other cold
vegetables) to suck or chew.
Broad mouth with full lips,Claw hands and

deformed feet,Cloudy cornea and
progressive loss of vision, resulting in
blindness,Coarsened facial
features,Increased body hair (hirsutism),
While all kinds of acquired lipodystrophy

cause a loss of body fat, exactly what that
means for each person is different.
Geleophysic dysplasia, a progressive

condition resembling a lysosomal storage
disorder, is characterized by short stature,
short hands and feet, progressive joint
limitation and contractures, distinctive
facial features, progressive cardiac
valvular disease, and thickened skin
Geleophysic dysplasia, a progressive

condition resembling a lysosomal storage
disorder, is characterized by short stature,
short hands and feet, progressive joint
limitation and contractures, distinctive
facial features, progressive cardiac
valvular disease, and thickened skin
A syndrome characterized by congenital

cataracts and severe brain abnormalities
apparently resulting from hemorrhagic
destruction of the brain parenchyma,
including the cerebral white matter and
basal ganglia. Patients manifest profound
developmental delay, and other
neurologic features included seizures,
spasticity, and hyperreflexia. The clinical
course is very severe resulting in death in
infancy. Brain imaging shows multifocal
intraparenchymal hemorrhage with
associated liquefaction and massive
cystic degeneration, and calcification in
the subependymal region and in brain
tissue.
Glycine N-methyltransferase (GNMT)
deficiency in humans is an autosomal
recessive defect.Autosomal recessive
inheritance,Elevated hepatic
transaminases,Hepatomegaly,Hypermethi
oninemia.
The major symptoms include enlargement

of the liver and spleen
(hepatosplenomegaly),Delayed skeletal
maturation, Diaphragmatic
paralysis,Hemiplegia/hemiparesis,a low
number of red blood cells (anemia), easy
bruising caused by a decrease in blood
platelets (thrombocytopenia), chronic
fatigue, lung disease, and bone disease
such as bone pain, fractures, and arthritis.
People with GD1 may be at in increased
risk for Parkinson disease, peripheral
neuropathy, certain cancers, and
osteoporosis
excessive fatigue or irritability (from

anemia),fussiness (in babies),bedwetting
(from associated kidney problems)
jaundice (yellowing of the eyes and skin)
swelling and pain in hands and feet
frequent infections ,chest
pain.Anemia,Vision problems,Delayed
growth,Frequent infections,Painful
swelling of hands and feet,Episodes of
pain.
The symptoms of CINCA syndrome start

at birth, or are observed within the first
weeks of life. The first symptoms are
usually a skin rash and fever. Individuals
with CINCA syndrome may also have
chronic meningitis (inflammation of the
membranes surrounding the brain), which
may lead to headaches, seizures, and
vomiting. Hearing loss, vision loss, and
intellectual disability, may also occur.
Infantile jaundice
Infantile hypotonia
Dysmorphic features
Sensorineural hearing loss
Impaired growth
Cognitive deficiencies
macroglossia
• thick lower lip vermilion
• abnormality of the face
• respiratory insufficiency
• hepatomegaly
• lymphadenopathy
nephropathy
• hypogonadism
• microcephaly
• global developmental delay
• hepatic failure
• hypertrophic cardiomyopathy
hepatomegaly, lethargy, vomiting,
respiratory distress, chyluria,
pneumatouria, traumatic hematuria
proteinuria
• edema
• acne
• microscopic hematuria
• metaphyseal irregularity
hirsutism,hyperinsulinemia,insulin
resistance,osteopenia, osteoporosis
cherry red spot of the
macula,osteoporosis,xanthomatosis,intell
ectual disability
narrow chest
• abnormality of the metaphyses
• hepatomegaly
• abnormality of the thyroid gland
• muscular hypotonia
• splenomegaly
sensorineural hearing impairment,neck
muscle weakness, diabetes
mellitus,areflexia
tall stature,open mouth,
macrocephaly,abnormality of the
philtrum,round face
hepatomegaly,increased serum iron,

hypogonadotrophic
hypogonadism,increased serum ferritin
fatigue, weakness, or shortness of
breath,a pale appearance or a yellow
color to the skin (jaundice),deformities of
the facial bones,a swollen abdomen.
life-threatening, inherited disorder of fatty
acid oxidation which usually presents in
the neonatal period with severe
hypoketotic hypoglycemia, hyperammone
mia, cardiomyopathy and/or arrhythmia,
hepatic dysfunction, skeletal muscle
weakness, and encephalopathy.
Babies and children with glycogen

storage disease type IXa (GSD IXa) may
have a large liver (known as
hepatomegaly), slow growth, slightly
delayed motor skills and low blood sugar
while fasting. Most symptoms of GSD IXa
improve by puberty,Many children present
with hypoglycemia (low blood sugar
levels) with the presence of ketones (a
substance that can be measured in the
blood and urine and indicates that the
body is utilizing alternative energy
sources during fasting).
mostly in infancy, including transient

failure to thrive, slightly prolonged
neonatal jaundice, equivocal or mild
hepatomegaly, microcytic anemia,
frequent upper respiratory infections,
gastroenteritis, dehydration and flat and
coarse facies.
Coarse facial features,Asymmetric septal

hypertrophy ,Coarse facial
features,Depressed nasal bridge,Diarrhea
Differential diagnosis includes the

hypo/akinesia sequence, Hallermann-
Streiff-FranÁois syndrome, Kenny-Caffey
syndrome and other slender bone
dysplasias, and some cases of
osteogenesis imperfecta with slender
bones
Differential diagnoses include

hyperimmunoglobulinemia D and periodic
fever syndrome (HIDS), TNF receptor-
associated periodic syndrome and
periodic fever (TRAPS), Marshall's
syndrome with periodic fever,
transthyretin-related amyloidosis and
Behçet's disease
Amyloid deposition in the kidneys can
cause nephrotic syndrome, which results
from a reduction in the kidney's ability to
filter and hold on to proteins. The
nephrotic syndrome occurs with or without
elevations in creatinine and blood urea
concentration,[6] two biochemical markers
of kidney injury. In AA amyloidosis the
kidneys are involved in 91–96% of
people,[7] symptoms ranging from protein
in the urine to nephrotic syndrome and
rarely renal insufficiency.
Short thorax,Abnormality of the

ribs,Micromelia,Skeletal dysplasia
liver dysfunction, hypotonia, muscle

weakness, exercise intolerance,
developmental delay, delayed motor
development and mental retardation
diarrhoea, stomach pain, vomiting, or
poor growth
Differential diagnoses include other urea

cycle disorders such as carbamoyl-
phosphate synthetase 1 deficiency,
ornithine transcarbamylase deficiency,
citrullinemia type I and arginase
deficiency
Characteristic features include muscle
weakness, loss of muscle coordination
(ataxia) and other problems with
movement, speech problems, and mental
illness.
conjugated hyperbilirubinemia, Rotor

syndrome
Progressive familial intrahepatic
cholestasis (PFIC) is a disorder that
causes progressive liver disease, which
typically leads to liver failure. In people
with PFIC, liver cells are less able to
secrete a digestive fluid called bile. The
buildup of bile in liver cells causes liver
disease in affected individuals.
Infants usually develop ataxia,

psychomotor delay and extraneurological
manifestations including failure to thrive,
enteropathy, hepatic dysfunction,
coagulation abnormalities and cardiac
and renal involvement.
Mild to moderate intellectual disability has

been reported and, in some cases,
affected infants and young children may
experience delays in reaching
developmental milestones. Behavioral
abnormalities including difficulties with
social interactions, poor communications
skills, hyperactivity, stubbornness, and/or
repetitive behaviors have also been
described.
liver abnormalities, heart abnormalities

such as disease of the heart muscle
(cardiomyopathy), stroke-like episodes,
and excessive loss of proteins from the
gastrointestinal tract (protein-losing
enteropathy), which can cause swelling
due to fluid retention (edema). Fluid
accumulation
The around
most common the lungs
features or hearts
of Zellweger
(pleural
syndrome or include
pericardial effusions)
enlarged liver,has
highalso
been reported.
levels of copper and iron in the blood, and
vision disturbances. Other symptoms
include unusual facial features, mental
retardation, seizures, and the inability to
suck, and/or swallow. Jaundice and
gastrointestinal bleeding may also occur.
In addition to multiple sulfatase

deficiency, the differential diagnosis
should also include other forms of MPS
(MPS 1, 2, 4A, 7), sialidosis and
mucolipidosis
Differential diagnoses include multiple
liver cysts, found in association with
autosomal dominant polycystic kidney
disease (ADPKD; see this term), but
PCLD is genetically distinct from ADPKD
with liver cysts. Simple liver cysts are also
a differential diagnosis. Caroli disease
(see this term), characterized by cysts
communicating with the biliary tract, is
differentiated by using imaging with
contrast agents specifically excreted into
the bile.
The differential diagnosis for the

myopathic form should include McArdle
disease, Duchenne muscular dystrophy,
and cytochrome c oxidase deficiency (see
these terms) among others, and carnitine-
acylcarnitine translocase deficiency
(CACT) and very-long-chain acyl-CoA
dehydrogenase deficiency (see these
terms) for the infantile and neonatal forms
The differential diagnosis should include

venous dysplasias, lymphedema and
bone tumors.
Differential diagnosis includes all forms of

SCID.
Cholestasis-lymphedema syndrome is a
rare genetic disorder characterized by
neonatal intrahepatic cholestasis, often
lessening and becoming intermittent with
age, and severe chronic lymphedema
which mainly affects the lower limbs.
Patients often present with fat
malabsorption leading to failure to thrive,
fat soluble vitamin deficiency with
bleeding, rickets, and neuropathy. In 25%
of cases, cirrhosis occurs during
childhood or later in life.
Differential diagnoses include graft-

versus-host disease, histiocytosis, Job
syndrome, Netherton syndrome, and
severe combined immunodeficiencies
(see these terms), particularly those
associated with maternal T-cell
engraftment.
Abnormality of the
eyelashes,Aplasia/Hypoplasia of the
eyebrow,Hepatomegaly,Ichthyosis,Spleno
megaly,Abnormality of dental
enamel,Acanthosis nigricans,Portal
hypertension,Reduced number of
teeth,Abnormality of blood and blood-
forming tissues
The principle differential diagnoses are
TORCH congenital infections
(toxoplasma, rubella, CMV, HSV1 and
HSV2).
Dyserythropoietic anemia,Calvarial
hyperostosis,Exocrine pancreatic
insufficiency ,Steatorrhea ,
Failure to thrive ,Box-shaped
skull ,Localized scaly perineal rash,Small
spots of increased
pigmentation ,Susceptibility for tooth
decay,Abnormal teeth eruption,Delayed
bone age,
Osteopenia ,Asthma ,Jaundice.
Dyserythropoietic anemia,Calvarial
hyperostosis,Exocrine pancreatic
insufficiency ,Steatorrhea ,
Failure to thrive ,Box-shaped
skull ,Localized scaly perineal rash,Small
spots of increased
pigmentation ,Susceptibility for tooth
decay,Abnormal teeth eruption,Delayed
bone age,
Osteopenia ,Asthma ,Jaundice.
Patients present with characteristic
cranial malformations: a voluminous skull
with wormian bones present and
persistence of the anterior fontanelle, and
a small mandible. Dental abnormalities
such as decayed, poorly located or
abnormally shaped (pointed or conical)
teeth and delayed tooth eruption may be
observed. Nails are sometimes irregular
and cracked.
The differential diagnosis for the

myopathic form should include McArdle
disease, Duchenne muscular dystrophy,
and cytochrome c oxidase deficiency (see
these terms) among others, and carnitine-
acylcarnitine translocase deficiency
(CACT) and very-long-chain acyl-CoA
dehydrogenase deficiency (see these
terms) for the infantile and neonatal forms
Differential diagnoses include Usher

syndrome (see this term) and all causes
of neonatal hypotonia. The other
peroxisomal disorders should also be
discarded, especially neonatal
adrenoleukodystrophy (see this term),
which presents similar clinical
manifestations.
The principle differential diagnoses are

other lysosomal storage diseases, such
as the various forms of
mucopolysaccharidosis.
Differential diagnoses include other rare
DNA damage response diseases such as
Seckel syndrome, Nijmegen breakage
syndrome (NBS), Cernunnos-XLF
deficiency and Fanconi anemia
Dysmorphic features,Psychomotor
retardation,Hypotonia,Seizures,Liver
disease,Coagulopathy,Early
death,Generalized
edema,Hypoventilation,Apnea,Demyelinat
ing polyneuropathy.
The symptoms of CVID vary between
people affected. Its main features are
hypogammaglobulinemia and recurrent
infections. Hypogammaglobulinemia
manifests as a significant decrease in the
levels of IgG antibodies, usually alongside
IgA antibodies; IgM antibody levels are
also decreased in about half of people.
Infections are a direct result of the low
antibody levels in the circulation, which do
not adequately protect them against
pathogens. The microorganisms that most
frequently cause infections in CVID are
bacteria Haemophilus influenzae,
Streptococcus pneumoniae and
Staphylococcus aureus. Pathogens less
often isolated from people include
Neisseria meningitidis, Pseudomonas
aeruginosa and Giardia lamblia. Infections
mostly affect the respiratory tract (nose,
sinuses, bronchi, lungs) and the ears;
they can also occur at other sites, such as
the eyes, skin and gastrointestinal tract.
These infections respond to antibiotics but
can recur upon discontinuation of
antibiotics. Bronchiectasis can develop
when severe, recurrent pulmonary
infections are left untreated.
Most common
Additional signsofand
features thissymptoms
condition are
lethargy,
include anfailure to thrive,
enlarged recurrent
liver (hepatomegaly),
vomiting,
clouding of dehydration
the lens of which leads to
the eyes
profound
(cataracts),metabolic
difficultyacidosis, respiratory
with coordinating
distress,
movements hypotonia
(ataxia),and deathloss,
hearing if notshort
recognized.
stature, muscle Complications of acute
weakness (myopathy),
episodes
involuntary can include metabolic
movement of the eyes stroke,
extrapyramidal
(nystagmus), and signs,
milddystonia and
intellectual
bilateral
disability.lucencies of globus pallidus.
Survivors may have significant
neurological damage. Renal failure may
appear during childhood. Clinical
spectrum is wide, ranging
from fatal neonatal disease to
asymptomatic individuals. Patients do not
have to have clinical crises in o
rder to have neurological or other organ
compromise.
Hypotonia,Recurrent respiratory
infections,Short stature,Short hands,Short
fingers,Facial abnormalities,Short
nose,Depressed nasal bridge
Short rhizomelic limbs
Narrow thorax
Delayed bone age
Large head
Muscle weakness,Myopathy
Symptoms present by eight months of

age and are marked by developmental
delay followed by neurological
complications such as seizures,
involuntary eye movements, and ataxia,
involuntary muscle movements and failure
to gain weight and grow at the expected
rate (failure to thrive). Babies with this
condition also have and enlarged liver
and spleen (hepatosplenomegaly) and
enlarged heart (cardiomegaly).
Combined oxidative phosphorylation

deficiency is a disease that affects many
parts of the body. Onset occurs at or soon
after birth in most cases, and features can
include growth retardation, small head
(microcephaly), increased muscle tone,
floppiness of the trunk and head, brain
disease (encephalopathy), enlarged heart
muscle (cardiomyopathy), and liver
dysfunction. There are many subtypes,
caused by many different gene mutations.
It is inherited in an autosomal recessive
pattern.
Hypotonia (low muscle tone) ,Feeding

problems ,Vomiting and
diarrhea ,Seizures,Unusual fat distribution
(more than usual on buttocks and pelvic
area) and inverted nipples,Strabismus
(“crossed eyes” or “lazy eyes”), Variable
growth and developmental
delays,Distinctive facial features,Liver
complications ,Osteopenia (low bone
mineral density), Death in the first year of
life for 20% of individuals
thin upper lip vermilion,progressive
microcephaly,epicanthus,long philtrum
Common symptoms of FPL include

selective, progressive loss of
subcutaneous fat in the arms and legs
and chest and trunk regions, abnormal
accumulation of subcutaneous fat in other
areas, and a variety of metabolic
complications. Generally, women are
more severely affected than men by the
metabolic complications of FPL.
Additional symptoms including those
affecting the liver or heart may also occur.
Differential diagnoses include other forms

of FLPD as well as Cushing syndrome
(see these terms), type 2 diabetes,
metabolic syndrome and acquired
lipodystrophy
progressive familial intrahepatic

cholestasis, diseases that present with
neonatal cholestasis, which includes
alpha-1-antitrypsin deficiency (ZZ
phenotype), tyrosinemia type 1, biliary
atresia, choledochal cyst, cystic fibrosis,
Alagille syndrome, galactosemia and
hereditary fructose intolerance or
diseases that present with growth failure
(panhypopituitarism) (see these terms).
typically appear during infancy or early

childhood and can include feeding
difficulties, lack of energy (lethargy), low
blood sugar (hypoglycemia), weak muscle
tone (hypotonia), liver problems, and
abnormalities in the light-sensitive tissue
at the back of the eye (retina).
causes of thrombocytosis with
myeloproliferative neoplasm including
chronic myeloid leukemia, polycythemia
vera, primary myelofibrosis, sporadic or
familial ET and myelodysplasic disorders
with thrombocytosis including
sideroblastic anemia or 5q- syndrome
(see these terms), although these can be
excluded by the presence of
myeloproliferation. Differential diagnoses
also include causes of secondary
thrombocytosis including iron deficiency,
malignancy, chronic inflammatory
disease, splenectomy or aspleny and
protracted marrow regeneration.
long head (dolichocephaly) owing to

abnormal fusion of skull bones (sagittal
craniosynostosis),Funnel chest (pectus
excavatum); narrow thorax (between the
neck and abdomen),Abnormally wide
space between the inner corners of eyes
(telecanthus),Excessive thirst,Enlarged
liver,Frequent respiratory tract and lung
infections.
include bone pain, particularly in the legs;

skeletal abnormalities; and/or weakness
and underdevelopment (hypoplasia) of
various muscles. Pain and weakness of
the leg muscles may result in an unusual
"waddling" walk (gait)
The differential diagnosis includes other
defined syndromes of hirsutism and
coarsening of the face. Isolated gingival
fibromatosis has been documented as a
dominantly transmissible trait.
in the head, neck, and face: coarse

(Hurler-like) facies and macrocephaly,
frontal prominence, premature closure of
sagittal lambdoid sutures, and J-shaped
sella turcica,in the nose: anteverted
nostrils and a depressed nostril bridge
short stature , premature aging (progeria),

severe photosensitivity, and moderate to
severe learning delay
Affected individuals can have severe
neurological symptoms, including
progressive dementia, aggressive
behavior, hyperactivity, seizures,
deafness, loss of vision, and an inability to
sleep for more than a few hours at a time.
MPS IIIB is caused by alterations
( mutations ) in the NAGLU gene.
Symptoms and age at presentation of

late-onset MADD are highly variable and
characterized by recurrent episodes of
lethargy, vomiting, hypoglycemia,
metabolic acidosis, and hepatomegaly
often preceded by metabolic stress.
Muscle involvement in the form of pain,
weakness, and lipid storage myopathy
also occurs
Slowed growth,Loss of normal movement

and coordination,Loss of communication
abilities, Loss of communication
abilities,Abnormal hand
movements,Unusual eye
movements,Cognitive
disabilities,Seizures,
Abnormal curvature of the spine
(scoliosis),
Irregular heartbeat.
Zellweger syndrome can also affect the

function of many other organ systems.
Patients can show craniofacial
abnormalities (such as a high forehead,
hypoplastic supraorbital ridges, epicanthal
folds, midface hypoplasia, and a large
fontanel), hepatomegaly (enlarged liver),
chondrodysplasia punctata (punctate
calcification of the cartilage in specific
regions of the body), eye abnormalities,
and renal cysts Newborns may present
with profound hypotonia (low muscle
tone), seizures, apnea, and an inability to
eat.
night
blindness,osteoporosis,jaundice,abnormal
bleeding,abnormality of
coagulation,malabsorption.
Refusal to eat ,Spitting up or
vomiting ,Yellowing of the skin (jaundice)
Lethargy ,Cataracts ,Learning
disabilities ,Neurological impairments .
developmental delay , mental
retardation , and vision and hearing
impairment are common in those who
have these disorders. Acquisition of
speech appears to be especially difficult,
and because of the reduced
communication abilities, autism is
common in those who live longer.
Peroxisomal disorder patients have
decreased muscle tone ( hypotonia ),
which in the most severe cases is
generalized, while in less severe cases, is
usually restricted to the neck and trunk
muscles. Sometimes this lack of control is
only noticeable by a curved back in the
sitting position. Head control and
independent sitting is delayed, with most
patients unable to walk independently.
hepatic fibrosis ,cholestasis ,bile duct
proliferation,splenomegaly,hepatomegaly.
Muckle–Wells syndrome (MWS), also

known as urticaria-deafness-amyloidosis
syndrome (UDA), is a rare autosomal
dominant disease which causes
sensorineural deafness, recurrent hives,
and can lead to amyloidosis. Individuals
with MWS often have episodic fever,
chills, and joint pain.
Headaches ,Double vision or seeing dark

or blind spots that come and go ,Itching
all over your body, especially after you've
been in warm or hot water ,Sweating,
especially at night,Reddened face that
looks like sunburn or
blushing ,Weakness ,Dizziness ,Weight
loss ,Shortness of breath,Tingling or
burning in your hands or feet ,Painful
swelling of a joint .
Type I infantile form, infants will develop
normally until about a year old. At this
time, the affected infant will begin to lose
previously acquired skills involving the
coordination of physical and mental
behaviors. Additional neurological and
neuromuscular symptoms such as
diminished muscle tone, weakness,
involuntary rapid eye movements, vision
loss, and seizures may become present.
With time, the symptoms worsen and
children affected with this disorder will
experience a decreased ability to move
certain muscles due to muscle rigidity.
The ability to respond to external stimuli
will also decrease. Other symptoms
include neuroaxonal dystrophy from birth,
discoloration of skin, Telangiectasia or
widening of blood vessels.
Weight loss, Fever, Diarrhoea,

Splenomegaly, Recurrent infections .
Autoimmune lymphoproliferative
syndrome (ALPS) is a rare, inherited
disorder characterized by non-malignant
lymphoproliferation, multilineage
cytopenias, and a lifelong increased risk
of Hodgkin's and non-Hodgkin's
lymphoma.
Cartilage-hair hypoplasia is a disorder of

bone growth characterized by short
stature (dwarfism) with other skeletal
abnormalities; fine, sparse hair
(hypotrichosis); and abnormal immune
system function (immune deficiency) that
can lead to recurrent infections.
Multiorgan involvement: May be mild to

severe ,Polyuria, polydipsia, dehydration,
vomiting, metabolic
acidosis ,Hypophosphatemic
rickets ,Constipation ,Failure to thrive,
poor/loss of appetite ,Craves salty and hot
and spicy foods; prefers specific food
textures ,May have recurrent bouts of
fever and manifestations of heat
intolerance ,Left untreated, renal failure
develops by age 7-10 years .
The rate at which symptoms worsen
varies among affected individuals. The
first signs and symptoms of MPS IV
usually become apparent during early
childhood. Affected individuals develop
various skeletal abnormalities, including
short stature, knock knees, and
abnormalities of the ribs, chest, spine,
hips, and wrists.
A characteristic symptom is chronic

inflammation of the skin, which appears
as a red rash (early onset erythroderma).
Other symptoms include eosinophilia,
failure to thrive, swollen lymph nodes,
swollen spleen, diarrhea, enlarged liver,
low immunoglobulin levels (except
immunoglobulin E, which is elevated), low
T cell levels, and no B
cells.https://en.wikipedia.org/wiki/Omenn_
syndrome#cite_note-Geha-3
Macrosomia ,Macroglossia ,Advanced

bone age ,Organomegaly ,Neonatal
hypoglycemia ,Neoplasms ,Congenital
diaphragmatic hernia (CDH) ,"Bulldog" or
"coarse" face (protruding jaw and tongue,
widened nasal bridge, upturned nasal
tip) ,Hands and feet are short and broad
with dysplatic nails ,Cutaneous syndactyly
,Polydactyly ,Pectus
excavatum ,Talipes ,Vertebral
sementation defects ,Supernumerary
nipples ,Structural and conductive cardiac
defects ,Multicystic dysplastic
kidneys ,Hypotonia ,Seizures ,Brain
malformations ,Developmental
disabilities ,Mental retardation- can be
inexistent or mild to severe .
The first signs and symptoms of MPS IV

usually become apparent during early
childhood. Affected individuals develop
various skeletal abnormalities, including
short stature, knock knees, and
abnormalities of the ribs, chest, spine,
hips, and wrists. People with MPS IV
often have joints that are loose and very
flexible (hypermobile), but they may also
have restricted movement in certain
joints. A characteristic feature of this
condition is underdevelopment
(hypoplasia) of a peg-like bone in the
neck called the odontoid process.
Hypotonia (low muscle tone),Feeding
problems ,Vomiting and
diarrhea ,Seizures
Unusual fat distribution (more than usual
on buttocks and pelvic area) and inverted
nipples ,Strabismus (“crossed eyes” or
“lazy eyes”) ,Variable growth and
developmental delays ,Distinctive facial
features ,Liver complications ,Osteopenia
(low bone mineral density) ,Death in the
first year of life for 20% of individuals .
Atria septal defect,Cardiomegaly,Mitral

valve prolapse,Retroperitoneal
fibrosis,Ventricular septal
defect,Autosomal recessive
inheritance,Camptodactyly,Clinodactyly,Di
abetes mellitus,Elbow flexion contracture.
The part of the brain and spinal cord that

contains myelin is called white matter.
Destruction of myelin (demyelination)
leads to loss of white matter
(leukodystrophy). Children with Zellweger
syndrome also develop life-threatening
problems in other organs and tissues,
such as the liver, heart, and kidneys.
They may have skeletal abnormalities,
including a large space between the
bones of the skull (fontanels) and
characteristic bone spots known as
chondrodysplasia punctata that can be
seen on x-ray.
Tiredness (fatigue),Weakness ,Pale skin
nephrotic ,syndromenephritis ,urticaria ,sp

lenomegaly,eosinophilia .
The first episode of cholestasis usually
occurs in an affected person's teens or
twenties. An attack typically begins with
severe itchiness (pruritus), followed by
yellowing of the skin and whites of the
eyes (jaundice) a few weeks later. Other
general signs and symptoms that occur
during these episodes include a vague
feeling of discomfort (malaise), irritability,
nausea, vomiting, and a lack of appetite.
A common feature of BRIC is the reduced
absorption of fat in the body, which leads
to excess fat in the feces (steatorrhea).
Because of a lack of fat absorption and
loss of appetite, affected individuals often
lose weight during episodes of
cholestasis.
Fatigue, lack of appetite or abdominal

pain,Jaundice, a yellowing of the skin and
the whites of the eye, tendency to bruise
easily,Fluid buildup in the legs or
abdomen,Problems with speech,
swallowing or physical
coordination,Uncontrolled movements or
muscle stiffness.
The signs and symptoms of this condition

vary widely, prompting researchers to
divide it into three types: neonatal, late-
infantile, and juvenile,
Extensive atheroma formation at a young

age which affects many arteries but not
the coronary arteries,in contrast to Marfan
syndrome which features upward ectopia
lentis, downward dislocation is the typical
finding of homocystinuria,Tall, thin build
resembling Marfanoid habitus
The signs and symptoms of this condition

vary widely, prompting researchers to
divide it into three types: neonatal, late-
infantile, and juvenile,
Ptosis,eczema, hepatomegaly,scoliosis,ly
Patients have accelerated growth,
voracious appetite, and advanced bone
age during early childhood. The
biochemical anomalies found in this
syndrome have an abnormal response to
insulin (hyperinsulinemia) action and the
incapability of producing adipose tissue.
Other characteristics include
hepatomegaly affecting liver functions,
gum hypertrophy, hypertriglyceridemia,
arterial hypertension, acanthosis
nigricans, hirsutism, cardiac hypertrophy,
and nephropathy. Diabetes mellitus
usually appears during the pubertal years.
Fatty infiltration of the liver occurs early
and may lead to cirrhosis and its
complications. Umbilical hernia or
prominence seems to be a consistent
finding. Post-pubertal patients may also
develop focal lytic lesions in the
appendicular bones. A few patients have
been reported to have hypertrophic
cardiomyopathy and mental retardation.
line of mental functioning

Loss of physical skills
Heart problems, including changes in
the valves
Hearing problems and frequent ear
infections
Large head size, broad forehead, and
heavy eyebrows
Deformed bones and stiff joints,
especially the spine, hips, knees, wrists,
and fingers
Short size
Breathing problems
Children with neonatal

adrenoleukodystrophy and infantile
Refsum disease may not develop
symptoms until later during infancy. Some
of these children reach adolescence or
adulthood although most have some
degree of intellectual disability, hearing
loss and vision problems.
The severe infantile
hepatocardiomuscular form of CPT II
deficiency affects the liver, heart, and
muscles. Signs and symptoms usually
appear within the first year of life. This
form involves recurring episodes of
hypoketotic hypoglycemia, seizures, an
enlarged liver (hepatomegaly),
cardiomyopathy, and arrhythmia
Most newborns with Aicardi-Goutieres syndr
Tricho-hepato-enteric syndrome is one partic
autoimmune manifestations, e.g. pernicious
Affected children present in the newborn

period with profound hypotonia, seizures,
and inability to feed. Characteristic
craniofacial anomalies, eye abnormalities,
neuronal migration defects,
hepatomegaly, and chondrodysplasia
punctata are present. Children with this
condition do not show any significant
development and usually die in the first
year of life
otitis media,eczema,splenomegaly,diarrhe
Development of scoliosis
Seizures or difficulty with movement
Skin and joints may become loose
Facial features change progressively;
this may include:thickening of the
skin,features becoming more
prominent,large head broad lower jaw
short, broad noserounded cheeks[2]
TREATMENTS
Tumor surveillance should be initiated if BWS is suspected/diagnosed and in a
clinically unaffected monozygotic twin of a patient, but should not be guided by
genotype/phenotype correlations at this time. Screening for hypoglycemia
should be undertaken in the neonatal period if there are suggestive or
diagnostic prenatal findings, and even for clinically unaffected newborns at
increased risk based on family history.
We are in the process of getting a bile acid, called cholic acid
At present, there is no effective medical treatment for osteopetrosis.

Management is supportive and aims at providing multidisciplinary surveillance
and symptomatic treatment.
Treatment of simple aldosterone deficiency should be first
The aim of treatment is to provide alternative energy sources and to correct

acute metabolic acidosis. Other management and treatment options depend on
the type of PC deficiency. Current symptomatic and supportive treatments are
generally ineffective.
Treatment revolves around protein-restricted diet and supplement of lysine,
ornithine, and citrulline. The complication of pulmonary alveolar proteinosis has
been reported to be successfully treated by whole lung lavage.
When an acute attack is confirmed, urgent treatment with an injection of

human hemin and/or perfusion of carbohydrates is required.
Treatment is symptomatic only.
The treatment does not seem to have an effect on neurological manifestations

and is therefore not indicated for patients with GD type 2.
Antihistamines,hepatitis B
Allogeneic transplantation from an HLA-matched sibling or from an unrelated

donor or cord blood transplantation.
no cure to stop
Cholic acid replacement therapy,restoring vitamins A, D, E, and K.
sodium phenylbutyrate, a histone deacetylase inhibitor, resulted in significant

clinical improvement and remission of seizures
riboflavin, glycine, or biotin.
nitisinone
celebrex,vollaren,ibuprofen,naproxen
Medical Therapy,Surgical Therapy,Knee,tibial tubercle, hypoplasia of the
femoral condyle, and subluxation of the patella.
Orthopedic issues in adults,Routine therapies,IV hydration and physical

therapy
stem cell transplantation,
Antibiotics,interferon-gamma,Surgery
Bone marrow transplantation (BMT),enzyme replacement therapy (ERT),

iduronate sulfatase (IDS)
Bone Marrow Transpalntation(BMT),Umbilical Cord Blood

Transpalntation(UCBT)
branched-chain alpha-keto acid dehydrogenase (BCKD), pyruvate

dehydrogenase (PDH), and alpha (α)-ketoglutarate dehydrogenase (αKGDH).
hematopoietic progenitor cell (HPC) transplantation.
diagnosis, management, and genetic counseling of patients
The management of mitochondrial disease is largely supportive and may

include early diagnosis and treatment of diabetes mellitus, cardiac pacing,
ptosis correction, intraocular lens replacement for cataracts, and cochlear
implantation for sensorineural hearing loss
hearing impairment,Cataract removal,adequate calorie intake,Supplementation
of vitamin K.
hormone replacement therapy,blood transfusions,anti-inflammatory medication
no cure or standard treatment for people
selenium,Combined Saposin Deficiency
accupunture,Aerobic exercise,Antibiotic,Angioplasty,Aromatherapy,Blood
Pressure Medications
calories,good nutrition,insulin,hormone replacement therapy
Pediatric Neurosurgery,Neuromusuculous kidney medicine,vascular

surgery,Neuropathology.
to avoid situations that tax the muscles and promote muscle pain and
weakness, like strenuous exercise.
no cure
lung transplantation,Rehabiltation,
amino acids lysine, hydroxylysine, and tryptophan,“glutaryl-CoA

dehydrogenase
low muscle tone (hypotonia)at birth, myoclonic seizures
diabetes or cirrhosis (scarring of the liver)

spinal muscular atrophy,muscular distrophy,carcinoide syndrome
familial intrahepatic cholestasis;enterohepatic recirculation
Phramacological therapy,Stem cell Transplantation,diet and activity
Hematopoietic stem cell transplantation
corticosteroids,immune suppressants,antiviral medications
ADHD,stroke
Hematopoietic stem cell transplantation,Bone marrow
transplantation,Noninfectious granulomas .
adequate calories, hearing aids, cataract removal in infancy, glasses, vitamin
supplementation, primary bile acid therapy, antiepileptic drugs, and possibly
monitoring for hyperoxaluria
Dehydration,Metabolic Acidosis
Mannose Supplementation
Folic acid supplementation,Iron depletion,Splenectomy.
pyridoxine,intractable neonatal seizures
diabetes mellitus, cardiac pacing, ptosis correction, intraocular lens

replacement for cataracts, and cochlear implantation for sensorineural hearing
loss
Enzyme replacement therapy (ERT),Glucosylceramide synthase
bone marrow transplantation (BMT) and enzyme replacement therapy

(ERT),HSCT (hematopoietic stem cell transplantation)
Tegretol,Trileptal,Carbatrol,Dilantin,Neurontin
The treatment of GSD type Ib involves a careful monitoring of the affected

person's diet, both in frequency of meals and type of foods eaten. People with
GSD type Ib should avoid foods with sucrose (table sugar), fructose (sugar
from fruits), and lactose and galactose (sugars found in milk). They need to eat
around the clock, typically every 1 to 3 hours during the day and every 3 to 4
hours at night, to maintain healthy blood sugar levels.
Cromolyn sodium, ketotifen and leukotriene-modifying agents are additional

medications which may provide benefit. Epinephrine may be required to treat
episodes of low blood pressure. More aggressive forms of Systemic
Mastocytosis may require interferon, immune modulators or chemotherapeutic
agents.
nebulised aztreonam and dry powder versions of colistin and tobramycin for
inhalation; dry powder inhaled mannitol
Management of chronic granulomatous disease revolves around two goals: 1) diagnose the disease early so that antibiotic pro
TGF-β1 Treatment of Primary Proximal Tubular Epithelial Cell Cultures
to justify the risks and mortality associated with allogeneic bone marrow
transplantation,stem cell transplantation has been successful in ALPS patients
and can be considered a treatment option for those with severe, recalcitrant
disease and a matched donor.
to justify the risks and mortality associated with allogeneic bone marrow
transplantation,stem cell transplantation has been successful in ALPS patients
and can be considered a treatment option for those with severe, recalcitrant
disease and a matched donor.
no effective medical treatment is available for the underlying disorder in

patients with G M1 gangliosidosis. Bone marrow transplantation was successful
in an individual with infantile/juvenile GM1 gangliosidosis; however, no long-term
benefit was reported. [20] Presymptomatic cord-blood hematopoietic stem-cell
transplantation has been advocated by some as a possible treatment because
of success in other lysosomal storage disorders.
While optimal treatment of HLH is still being debated, current treatment

regimes usually involve high
dose corticosteroids, etoposide and cyclosporin. Intravenousimmunoglobulin is
also used. Methotrexate and vincristine have also been used. Other
medications include cytokine targeted therapy.
Diagnostic Tests,Drug Therapy,Surgery and Rehabilitation,Genetic Counseling.
Fibrates,Pharmacologic
Treatment is symptomatic. Therapy,Niacin,Omega
Care should be providedacidsby a multidisciplinary team
in order to monitor and treat skin, lung, and immunologic manifestations.
Topical proline plus glycine ointment, steroids, methylprednisolone, blood
There's no cure
transfusions, for microcephaly,
plasmapheresis, andbut theregrowth
topical are treatments
hormone to help with
ointment have all
development,
been behavior,
used to treat and
ulcers, seizures,If
with your child
varying degrees of has mild microcephaly,
improvement reported. he'll
need regular
Antibiotic doctor checkups
prophylaxis to monitor in
may be necessary how he grows
some cases.and develops.
In patients with
splenomegaly, contact sports should be avoided.
in treating patients with progressive familial intrahepatic cholestasis with
ursodeoxycholic acid (20-30 mg/kg/d), which may be tried as an initial
treatment. Other therapies for the symptomatic relief of pruritus include
antihistamines, rifampin, and bile acid-binding agents.
Affected individuals may have periodic endoscopic and oral cavity evaluations
by a gastroentrologist to detect esophageal cancer. For the palmoplantar
Several types aofdermatologist
keratoderma, ILD, most notably sarcoidosis and
may recommend oral hypersensitivity reactions, get better on their own, or they respond to treatm
retinoids such as
etretinate, isotretinoin, and acitretin. Topical therapies may include soaking in
salt water and then gentle removal of dead tissue (debridement) and 50%
propylene glycol in water under plastic dressing overnight weekly
Treatment consists of correcting metabolic abnormalities and managing
complications. Monitoring diet (reduced intake of dietary fats and
carbohydrates) and maintaining daily physical activity can improve the
metabolic complications of lipodystrophy. Insulin sensitizers (mainly metformin)
and lipid-lowering drugs (statins, or fibrates in case of major
hypertriglyceridemia) can also be helpful. Diabetes may require other non-
specific treatments, along with insulin. Treatment with metreleptin has resulted
in regression of hepatic steatosis and an improvement in metabolic
homeostasis,
Seizures but isrespond
generally only approved
at leastinpartially
Japan and for the treatment
to antiepileptic drugs of
until a fairly
generalized
advanced forms
stage of of
thelipodystrophies in the can
disease. Cataplexy US (and through
usually compassionate
be controlled by
programs in other
clomipramine, countries).
protriptyline, orRegular
modafinil.cardiac monitoringagents
Anticholinergic is recommended.
have been
Ethinylestradiol
reported should
to improve be avoided
dystonia in women
and tremor with patients.
in some FPLD2. Plastic surgery is
Physiotherapy can
help some
useful in thepatients.
management of spasticity and the prevention of contractures.
Melatonin may be used to treat insomnia. Patients with a slow disease course
may benefit from special schooling for handicapped children. Proper
management of infections and of feeding difficulties (gastrostomy) is essential
at an advanced stage of the disease.
Medications, such as iron chelating agents or interferon alpha-2A (only in CDA

type I),Selected surgical procedures (removal of the spleen and/or gallbladder),
when required
Diagnostic Tests,Drug Therapy,Surgery and Rehabilitation,Genetic

Counseling.
Treatment for Methylmalonic Acidemia involves dietary management.
Individuals with the disorder should consume low protein, high calorie diets and
avoid periods of fasting from food. Some individuals may benefit from carnitine
supplementation or B12 injection therapy. Other treatment for Methylmalonic
Acidemia may include kidney and liver transplantations.
L-carnitine has shown to be beneficial in Propionic Acidemia as it facilitates
removal of toxins from the blood and helps in providing energy to the body.
Certain oral antibiotics are also helpful in reducing propionic acid build up in
the intestines. Apart from medications supplement like Biotin is also very
helpful for children with Propionic Acidemia.
Treatment with cornstarch and a high protein diet is recommended in an effort

to achieve normal labs and normal growth. Treatment improves growth velocity
and bone density in this condition, and reduces the frequency of hypoglycemia
and ketosis. Treatment is individualized in an attempt to maintain glucose
concentrations above 70 mg/dL and normalize ketones after an overnight fast.
The condition is diagnosed by the presence of the typical physical
characteristics, and the unusually slow growth. Confirmation is by molecular
genetic testing. Another technique involves a DNA repair test carried out on
special cells called fibroblasts.
The orphan drug, Actimmune (interferon gamma-1b), has been approved by
the Food and Drug Administration (FDA) for the treatment of chronic
granulomatous disease,such as trimethoprim and sulfamethoxazole to protect
against bacterial infections, and itraconazole for anti-fungal
protection,Corticosteroid drugs,Bone marrow transplants.
Prior to hematopoietic cell transplanation, affected people are usually treated with chemotherapyand/or immunotherapy to des
The pregnant mother undergoes ultrasound to examine the fetus. A fetus with
the medical condition shows hydrops fetalis, short limb dwarfism, polydactyly
and chondro-osseous changes.
Treatment involves cholesterol supplementation and reduction of 7-

hydrocholesterol. Simvastin, a 3-hydroxy-3-methylglutaryl co-enzyme A (HMG-
CoA) reductase inhibitor, has been proven to be beneficial in normalizing the
lathosterol level in one patient. Liver transplantation was successful in
normalizing liver function and cholesterol levels in a patient who had developed
end stage liver disease. Moreover, it appeared to improve neurocognitive
functions. Regular opthalmological evalutations and ultrasound monitoring of
the liver are recommended.
Diabetes medication,Hearing aids,Heart medications,Thyroid hormone

replacement
Most patients do not require any specific treatment; a few patients may need to
use cornstarch snacks
Treatment is symptomatic (management of the feeding problems, psychomotor

delay and, if present, epilepsy).
Folate Therapy,Cobalamin Therapy,Monitoring Response to Therapy.
Enzyme replacement therapy (ERT),Substrate reduction therapy

(SRT),Symptom Management and Ongoing Care,Psychological Care.
The disorder normally delays development and results in various dysmorphic

features and mental retardation amidst other manifestations. The medical
patient may also fail to thrive
Making a diagnosis for a genetic or rare disease can often be challenging.
Healthcare professionals typically look at a person’s medical history,
symptoms, physical exam, and laboratory test results in order to make a
diagnosis
D-BP can be distinguished from Zellweger Syndrome by normal plasmalogen synthesis. Recent studies in D-BP knockout mice
Complete elimination of fructose and sucrose from the diet is an effective
treatment for most patients. Treatment of individual complications follows
mainstream medical guidelines. For example, some patients can take
medication to lower the level of uric acid in their blood and thereby decrease
their risk for gout.
rifampicin and cholestyramine can be used to reduce pruritus and to induce

remission of a cholestatic episode in some patients. Plasmapheresis/MARS
(Molecular Adsorbents Recirculation System) has also been shown to be of
benefit in some cases. For individuals that are unresponsive to medical
therapy, endoscopic nasobiliary drainage is generally effective. Partial external
biliary diversion is also used to improve quality of life and prevent disease
progression. Liver transplantation may eventually be indicated for patients with
frequent and severe episodes.
myopathic, hepatopathic, and/or encephalomyopathic.
No specific treatment or cure exists. Affected children usually need total

parenteral nutrition through a central venous catheter. Further worsening of
liver damage should however be avoided if possible. Diarrhea will likely
continue even though food stops passing through the gastrointestinal system.
They can subsequently be managed with tube feeding, and some may be
weaned from nutritional support during adolescence
it is a rare geneticdisorder characterized by

monocytosis, autoimmune cytopenias,lymphoproliferation,
hepatosplenomegaly, and hypergammaglobulinemia.
No specific treatment or cure exists. Affected children usually need total
parenteral nutrition through a central venous catheter
As fat cannot be stored under the skin it is important to have a healthy diet
without excess fat.
Pay scrupulous attention to the dental and oral health of patients with
glycogen-storage disease type Ib to reduce incidence of infection.
It can be treated as orally with mannose and CDG lli with fucose,and
Monitoring of Mannose uptake by Blood assay in recommended.
FBP deficiency management aims at avoiding hypoglycemia and lactic acidosis
through frequent feeding, enriched with glucose or maltodextrin, especially in
illness associated with fever. Prevention and treatment of metabolic
decompensation (with glucose orally or intravenously) is essential. Fasting
periods longer than 8 hours should be avoided and infectious episodes should
be carefully monitored. Fructose or sucrose should be avoided during acute
episodes.
Optic neuropathy and retinopathy, poor feeding necessitating a gastrostomy

tube, and peripheral neuropathy with axonal degeneration. Subsequent brain
imaging showed rapid progression of the cerebellar atrophy, as well as delayed
myelination, Treatment with coenzyme Q10 resulted in some clinical
improvement.
Rituximab , Thiotepa, MUROMONAB-CD3, Melphalan, Cyclophosphamide.
bone marrow failure is hematopoietic cell transplantation
There is no treatment for this severe form of the disease
Treatment may require the coordinated efforts of a team of specialists.

Pediatricians, neurologists, surgeons, cardiologists, speech pathologists,
ophthalmologists, gastroenterologists, and other healthcare professionals may
There
need toissystematically
no specific treatment for Farber disease.
and comprehensively Corticosteroids
plan an affect child’s may be
treatment.
prescribed to relieve pain. Bone marrow transplants may improve granulomas
(small masses of inflamed tissue) on patients with little or no lung or nervous
system complications. Older patients may have granulomas surgically reduced
or removed.
A restrictive red blood cell transfusion strategy is recommended for
hospitalized patients with coronary heart disease, with the trigger hemoglobin
threshold lowered to 7-8 g/dL,Erythropoiesis-stimulating agents are not
recommended for patients with mild to moderate anemia and either congestive
heart failure or coronary heart disease.
Enzyme replacement therapy for patients with a defect in the enzyme a-L-
iduronidase (lauonidase) is now possible. This includes individuals with Scheie
syndrome, but also Hurler and Hurler-Scheie syndromes,Early recognition and
treatment of spinal cord compression can prevent permanent nerve damage.
Treatment is also given for heart problems caused by leaky valves.
No specific treatment for progressive lipodystrophy is effective. Symptomatic

therapy should be prescribed as necessary for the treatment of renal
complications and associated autoimmune disorders in progressive
lipodystrophy patients,Renal and immunologic disturbances may warrant
inpatient care at times.
Treatment of manifestations: Regular physiotherapy to prevent joint limitation;

cardiac valve replacement as needed; tracheostomy as required
For many of the peroxisomal disorders, there is no standard course of

treatment, with supportive treatment strategies focusing on alleviation of
complications and symptoms. Bone marrow transplants may be effective for
children with X-ALD if administered early in the course of the childhood form of
the disease. Physical and psychological therapies are important for all types of
peroxisomal disorders.
No treatment has been reported.

There are usually no symptoms, treatment may not be needed. It is important,
however, to have a careful follow-up. A low methionine diet (300 mg/day) can
correct the biochemical abnormalities. In general, methionine restriction should
be done when levels are greater than 800 μmol/L. The aim of the diet should
be to maintain methionine levels around 500–600 μmol/L
The medication(s) listed below have been approved by the Food and Drug
Administration (FDA) as orphan products for treatment of this
condition.Miglustat (Brand name: Zavesca),Velaglucerase-alfa (Brand name:
VPRIV),Taliglucerase alfa (Brand name: Elelyso For Injection),Imiglucerase
(Brand name: Cerezyme®),Eliglustat (Brand name: Cerdelga)
Medications used to treat sickle cell anemia include:Antibiotics,Pain-relieving

medications,Hydroxyurea (Droxia, Hydrea).
The medication(s) listed below have been approved by the Food and Drug
Administration (FDA) as orphan products for treatment of this
condition:Rilonacept (Brand name: Arcalyst®) ,Anakinra (Brand name:
Kineret).
Dietary restriction is the only current treatment available for GALE deficiency.
As glycoprotein and glycolipid metabolism generate endogenous galactose,
however, Type III galactosemia may not be resolved solely through dietary
restriction.[5]
Bromfenac,Rosiglitazone,Drospirenone,diuretics
No treatment is available for most of these disorders. Mannose
supplementation relieves the symptoms in PMI-CDG (CDG-Ib) for the most
part,[31] even though the hepatic fibrosis may persist.[32] Fucose
supplementation has had a partial effect on some SLC35C1-CDG (CDG-IIc or
LAD-II) patients
Metronidazole,Hydroxocobalamin ,Biotin,Vitamin B12,Methylcobalamin
Schnitzler Syndrome: Clinical Study, Physiopathological and Search for

Genetic Factors
Metformin is the main drug used for treatment, as it is normally used for
patients with hyperglycemia.[12] Metformin reduces appetite and improves
symptoms of hepatic steatosis and polycystic ovary syndrome.[2] Leptin can
also be used to reverse insulin resistance and hepatic steatosis, to cause
reduced food intake, and decrease blood glucose levels.[13]
Prednisolone,1-Deoxynojirimycin,Ezetimibe , insulin,Methylprednisolone
24-hour urinary calcium > 400 mg (see Foot Note, below)

serum calcium > 1 mg/dL above upper limit of normal
Creatinine clearance > 30% below normal for patient's age
Bone density > 2.5 standard deviations for below peak (i.e., T-score of -2.5)
People age < 50
Clofibric acid, Bezafibrate
Miconazole,hydroxyitraconazole,Itraconazole,Doxil,Mycophenolate mofetil
Treatment is based on the symptoms and severity of the disease. Iron

chelators may be used to bind excess iron in tissues and allow for excretion of
the excess metal.[31] Individuals with hemochromatosis type 4B may be
treated with therapeutic phlebotomy. However, individuals with
hemochromatosis type 4A may not require treatment. Additionally, therapeutic
phlebotomy may not be tolerated in individuals with type 4A because anemia
may develop despite the elevated serum ferritin levels typically found in these
individuals
Surgery to remove the gallbladder,Regular blood transfusions,Medicines to

reduce extra iron from your body (called iron chelation therapy),Genetic
tests,Bone marrow transplant
Strict avoidance of fasting along with the institution of a low long-chain fat diet
and medium chain triglyceride (MCT) supplementation is necessary. However,
the MCT formula should be as low as possible in C10 and C12 fatty acids as
high dietary intake of these can lead to decompensation. Carnitine
supplementation is also recommended. During an acute episode, intravenous
glucose is administered in order to inhibit lipolysis
Fasting can also occur in the setting of illness or during periods of physiological
stress like a surgery. It is important to be in contact with your child's doctors
when your child is sick or requires a medical or surgical procedure in which
fasting is recommended. IV nutrition or a sugar solution may be provided
during these periods of time to prevent life-threatening hypoglycemic episodes
from occurring.
Urological Surgery, Kidney Doctors,Nephrology,Pediatric Nephrology
Medical treatment is supportive and is directed toward improving the patient's

quality of life. Because of the varied symptoms seen in mucopolysaccharidosis
(MPS) type III, a multidisciplinary approach is indicated (see Consultations).
Currently, specific therapies such as bone marrow transplantation (BMT) and
enzyme replacement therapy (ERT) are not options for patients with Sanfilippo
syndrome
There is no treatment for osteocraniostenosis.
Colchicine (oral or by I.V.) is the drug used to treat FMF. It reduces or

eliminates FMF attacks and prevents the occurrence of amyloidosis type AA
(see this term). Dosage ranges up to 0.03mg/kg/body weight/daily, or to a
maximum of 3mg/daily, and must be taken regularly on a life-long basis. During
an attack a nonsteroidal anti-inflammatory drug can be administered.Patients
intolerant to colchicine have no alternative of matching efficacy, but Anakinra,
interferon-alpha and selective serotonin reuptake inhibitors (SSRIs) have
shown encouraging results in some patients.
Treatment depends on the type of amyloidosis that is present. Treatment with
high dose melphalan, a chemotherapy agent, followed by stem cell
transplantation has showed promise in early studies and is recommended for
stage I and II AL amyloidosis.[10] However, only 20–25% of people are eligible
for stem cell transplant. Chemotherapy and steroids, with melphalan plus
dexamethasone, is mainstay treatment in AL people not eligible for transplant
The Vertical Expandable Prosthetic Titanium Rib (VEPTR) was approved by

the FDA in 2004 as a treatment for thoracic insufficiency syndrome (TIS) in
pediatric patients. TIS is a congenital condition where severe deformities of the
chest, spine, and ribs prevent normal breathing and lung development. The
VEPTR is an implanted, expandable device that helps straighten the spine and
separate ribs so that the lungs can grow and fill with enough air to breathe.
The goals of treatment are to improve symptoms and slow progression of the
disease; the effectiveness of treatment varies with each individual,Prognosis
varies depending on the form of COX deficiency present.[4] Individuals with
benign infantile mitochondrial myopathy may experience spontaneous recovery
(although early diagnosis and intensive treatment is still needed until this
point), while there may be rapid demise in individuals with Leigh syndrome
liver transplantation was necessary in most patients.[3]
During an acute hyperammonemic episode, oral proteins must be avoided and

intravenous (I.V.) lipids, glucose and insulin (if needed) should be given to
promote anabolism. I.V. nitrogen scavenging therapy (with sodium benzoate
and/or sodium phenylacetate) should normalize ammonia levels, but if
unsuccessful, hemodialysis is recommended. Long-term management involves
dietary protein restriction as well as arginine supplementation. In those with
frequent episodes of metabolic decompensation or with hyperammonemia
even when following a protein-restricted diet, daily oral nitrogen scavenging
therapy may be successful. Orthotopic liver transplantation offers long-term
relief of hyperammonemia but does not seem to sufficiently correct
neurological complications. Arterial hypertension can be treated by restoring
nitric oxide deficiency.
A treatment aimed at inhibiting gangliosides synthesis (Miglustat) is currently

being investigated for the slowly progressive forms.
There is no curative treatment for DJS, even though short-term administration
of phenobarbital has been reported to reduce serum bilirubin level in some
cases.
Initial treatment is supportive, with the use of agents to treat cholestasis and
pruritus, including the following:Ursodeoxycholic
acid,Cholestyramine,Rifampin,Naloxone
Pediatricians, neurologists, surgeons, cardiologists, speech pathologists,

ophthalmologists, gastroenterologists, and other healthcare professionals may
need to systematically and comprehensively plan an affect child’s treatment.
Regular physiotherapy to prevent joint limitation; cardiac valve replacement as

needed; tracheostomy as required. Surveillance: Annual multidisciplinary
examination to access height and range of motion of the joints;
echocardiography for evidence of valvular stenosis and/or arterial narrowing;
clinical assessment for evidence of tracheal stenosis and respiratory
compromise; clinical assessment and ultrasound examination, if needed, to
assess liver size.

supplementation
There relieves
is no cure for the symptoms
Zellweger syndromeinbutPMI-CDG
there are(CDG-Ib)
some for the most
part, even though the hepatic
treatments.“Treatments focus fibrosis may persist.
on symptomatic Fucose
therapy, andsupplementation
may include: has
had a partial to
gastrostomy effect on some
provide SLC35C1-CDG
adequate (CDG-IIc
calories, hearing or cataract
aids, LAD-II) patients.
removal in
infancy, glasses, vitamin supplementation, primary bile acid therapy, anti-
epileptic drugs, and possibly monitoring for hyperoxaluria.” (Gene Reviews)
Surveillance includes annual hearing and ophthalmologic evaluations,
monitoring of coagulation factors, and tests of liver function.Avoidance of cow's
milk products is recommended to reduce exposure to phytanic acid.
Currently there is no cure for these disorders. Medical care is directed at treating systemic conditions and improving the person
Most patients are asymptomatic and do not require treatment. For those with
symptoms, management depends on the extent, distribution, and anatomy of
the cysts and may include percutaneous cyst aspiration, alcohol sclerosis, cyst
fenestration, partial hepatectomy, and even liver transplantation (in rare cases
where the massively enlarged liver considerably alters the quality of life). Any
form of estrogen therapy should be stopped immediately. Recently, lanreotide
and long acting octreotide (somatostatin analogues) have been shown to be
safe and effective treatments for PCLD that reduce moderate polycystic liver
volume and prevent its growth.
Treatment is based on avoidance of prolonged fasting (>12 hr) and a low-fat

and high-carbohydrate diet.
In childhood, during the growth period, treatment of the AVM should be

performed and may lead to spontaneous correction of the LLD. Intraosseous
AVMs should be treated by direct puncture and occlusion, or possibly by
catheter embolization, but surgery should be avoided as the risk of
hemorrhage is high. Soft tissue fistulas can be treated by catheter embolization
or by surgery with resection of the fistulous area, alone or in combination with
endovascular procedures. Orthopedic procedures should stop the bone
elongation during the growth period or correct the LLD in adults. Epiphyseal
staples are also effective at stopping growth. Contralateral limb elongation
using the Ilizarov technique is feasible in adults.
Treatment is based on allogenic hematopoietic stem cell transplantation

(HSCT), enzyme replacement therapy with pegylated adenosine deaminase
enzyme or gene therapy by infusion of CD34+ marrow cells that have been
transduced with an ADA-containing vector.
vitamin K treatment was available
Initial treatment is based on immunosuppressive drugs including prednisone

and cyclosporin followed by hematopoietic stem cell transplantation, in a centre
recognized as treating such disorders ideally using HLA-identical family donors
or, if this is not available, other appropriate donors after use of appropriate
conditioning regimens.
Liver transplant and hydrating the skin through skin creams, exposure to
sunlight and retinoid use
Treatment is symptomatic (management of the feeding problems, psychomotor

delay and, if present, epilepsy).
Pancreatic enzyme supplement. Red blood cell transfusions may be needed to

alleviate severe anemia
Differential diagnoses include osteoporosis, osteopetrosis, cleidocranial
dysplasia and idiopathic acroosteolysis (see these terms). Management is
symptomatic and multidisciplinary. It includes orthopedic monitoring, treatment
of fractures, of which consolidation is sometimes slow, and static vertebral
surveillance to detect frequent spondylolisthesis. The prognosis is favorable;
the disease is not progressive.
Treatment is based on avoidance of prolonged fasting (>12 hr) and a low-fat

and high-carbohydrate diet.
No specific treatment is available. Multidisciplinary supportive care should be

offered.
Management should be proactive, preventing complications and treating

manifestations. Infections must be treated frequently. Otolaryngological
treatment of fluid in the middle ear is often needed and use of hearing aids is
invariably required. Early educational intervention for development of social
skills is needed and physiotherapy is important to improve bodily function.
Orthopedic surgery may be necessary.
Supportive treatment is with prophylactic antibiotics and anti-virals.

Hematopoietic stem cell transplantation may be indicated in some patients
using modified conditioning regimens without radiotherapy.

supplementation relieves the symptoms in PMI-CDG (CDG-Ib) for the most
part, even though the hepatic fibrosis may persist. Fucose supplementation
has had a partial effect on some SLC35C1-CDG (CDG-IIc or LAD-II) patients.
Treatment consists of immunoglobulin replacement therapy, which replenishes Ig subtypes that the person lack. This treatmen
Drugs derived from Vitamin A (retinoids) such as tretinoin, motretinide, and

etretinate can be effective against skin symptoms of Chanarin Dorfman
syndrome, but can cause toxic effects on the bones in some cases, especially
if taken by pregnant women. A synthetic derivative of Vitamin A, isotretinoin,
when taken by pregnant women, can cause severe birth defects to the fetus.
These Vitamin A compounds have not yet been approved by the Food and
Drug Administration (FDA) for treatment of ichthyosis.
Protein restricted diet, OH

-
Cbl injections, carnitine supplementation and oral
antibiotic therapy to decrease gut production of propionate. Special medical
foods
(formula) deficient in methionine, threonine, valine, isoleucine, odd chain fatty
acids and cholesterol. Liver transplant and liver/kidney transplant.
Treatment of other features of Chanarin Dorfman syndrome is symptomatic
and supportive.
we now suspect that such treatment
was unnecessary ... TE , Yunis E , Brown BI , Kendall RS , Tzakis A . Liver
transplantation for Type
IV glycogen storage disease. ... Continuing lessons from glycogen storage
diseases.
There is no treatment for ISSD. Treatment is limited to controlling the

symptoms of this disorder such as administering anti-convulsant medication to
control seizure episodes.
Treatment is supportive
The treatment of most forms of CDG is directed toward the specific symptoms
that are apparent in each individual. Treatment may require the coordinated
efforts of a team of specialists. Pediatricians, neurologists, surgeons,
cardiologists, speech pathologists, ophthalmologists, gastroenterologists, and
other healthcare professionals may need to systematically and
comprehensively plan an affect child’s treatment.
An autosomal recessive metabolic disorder characterized by severely delayed
psychomotor development, mild dysmorphic features, hepatomegaly, marked
metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate, and
encephalopathy.

Pediatricians, plastic surgeons, cardiologists, endocrinologists, nutritionists,
and other healthcare professionals may need to systematically and
comprehensively plan an affect child’s treatment.
Treatment consists of correcting metabolic abnormalities and managing

complications. Monitoring diet (reduced intake of dietary fats and
carbohydrates) and maintaining daily physical activity can improve the
metabolic complications of lipodystrophy. Insulin sensitizers (mainly metformin)
and lipid-lowering drugs (statins, or fibrates in case of major
hypertriglyceridemia) can also be helpful. Diabetes may require other non-
specific treatments, along with insulin. Treatment with metreleptin has resulted
in regression of hepatic steatosis and an improvement in metabolic
homeostasis, but is only approved in Japan and for the treatment of
generalized forms of lipodystrophies in the US (and through compassionate
programs in other countries). Regular cardiac monitoring is recommended.
Ethinylestradiol should be avoided in women with FPLD2. Plastic surgery can
help some patients.
Treatment is based on oral bile acid therapy, which leads to gradual resolution
of biochemical and histologic abnormalities and prevents progression of the
disease. Cholic acid therapy creates a pool of bile acids which stimulates bile
flow and facilitates fat soluble vitamin absorption and suppresses atypical bile
acid synthesis thereby reducing the production of toxic bile acid metabolic
intermediates. Ursodeoxycholic acid (UDCA) may be used but is not the
therapy of choice because UDCA does not suppress atypical bile acid
synthesis and the toxic metabolites that may injure the liver continue to be
produced.
Most patients also are provided with uncooked cornstarch and medium-chain
triglyceride (MCT) oil supplementation to further decrease exposure to fasting.
Oral supplementation with docosahexanoic acid ethyl ester (DHA) may be
considered to improve visual function.
Treatment is based on low dose aspirin at diagnosis. There is no consensus
for using platelet lowering therapy despite an increased risk of thrombosis.
Patients may have an increased risk of thrombotic events and hemorrhage.
Surgery to correct skeletal abnormalities,Growth hormone therapy,Oral

medication and supplements for renal insufficiency,Dental care to correct tooth
abnormalities,Vision care and aids, if vision is impaired.
No disease-modifying treatment is available. Corticosteroids are reported to

relieve the symptoms of CED. Analgesics and non-pharmacological methods
can be used to treat pain. NSAIDs and bisphosphonates have been found to
be ineffective.
Treatment consists of surgical removal of the hyperplasic fibrous tissue and

appropriate orthodontic treatment to improve esthetic appearance and eruption
of the non-erupted teeth.
Bone marrow or cord blood transplantation, which endogenously restores

production of missing functional enzyme,Enzyme replacement therapy, which
supplements exogenously deficient enzyme produced by recombinant DNA
technology,Gene transfer and modified fibroblast implants that supply patient
with a functional gene for the deficient enzyme
There is no permanent cure for this syndrome, although patients can be

treated according to their specific symptoms. The prognosis for those with
Cockayne syndrome is poor, as death typically occurs by the age of 12
Treatment usually involves physical therapy and minor surgeries to the
affected organs, like cataract removal. Also wearing high-factor sunscreen and
protective clothing is recommended as patients with Cockayne syndrome are
very sensitive to UV radiation
No treatment for the underlying cause is available
Urinary organic acid analysis usually displays various combinations of

increased dicarboxylic acids, glutaric acid, ethylmalonic acid, 2-
hydroxyglutarate, and glycine conjugates. Blood acylcarnitines show increased
C4-C18 species although patients may be severely carnitine depleted, which
may limit the degree of these abnormalities. Fibroblast fatty acid oxidation flux
and fibroblast acylcarnitine analysis following incubation with palmitic acid is
usually abnormal. Final confirmation is by mutation analysis. Newborn
screening programs are available in Austria, Belgium, Hungary, Iceland,
Portugal and Spain.
Regular medical care,Medications Physical therapy,Occupational

therapy,Speech-language therapy,Nutritional support,Behavioral
intervention,Support services .
Zellweger syndrome patients show elevated very long chain fatty acids in their
blood plasma. Cultured primarily skin fibroblasts obtained from patients show
elevated very long chain fatty acids, impaired very long chain fatty acid beta-
oxidation, phytanic acid alpha-oxidation, pristanic acid alpha-oxidation, and
plasmalogen biosynthesis
Pediatricians, neurologists, liver specialists (hepatologists), nutritionists, and
other healthcare professionals may need to systematically and
comprehensively plan an affect child’s treatment. Genetic counseling may be
of benefit for affected individuals and their families.
Lactose and galactose-free diet,Special lactose-free formula, Calcium

supplements, Monitoring health ,Informing friend, relatives, teachers and child-
care providers.
There is nospecific therapy for FJN other thancorrection of water and
electrolyte imbalances that may occur. Dialysis followed by transplantation is
the preferred
Dialysis approach
followed for end-stageisrenal
by transplantation disease. approach
the preferred The tubulefor
injury does not
end-stage
recur in the transplanted kidney, which lacks the underlying abnormality
renal disease. The tubule injury does not recur in the transplanted kidney,
which lacks the underlying abnormality
Treatment with anakinra, an interleukin 1 receptor antagonist, can lead to an

improvement in the hearing loss. Rilonacept (Arcalyst) a dimeric fusion protein
for the treatment of CAPS. Canakinumab, a monoclonal antibody against
interleukin-1β .
Phlebotomy,Low-dose,Medicine to lower blood cells.

Amniocentesis or chorionic villus sampling can be used to screen for the
disease before birth. After birth, urine tests, along with blood tests and skin
biopsies can be used to diagnose Schindler disease. Genetic testing is also
always an option, since different forms of Schindler disease have been
mapped to the same gene on chromosome 22, though different changes
(mutations) of this gene are responsible for the infantile- and adult-onset forms
of the disease .
Approach Considerations,Medical Care,Surgical Care,Consultations,Diet.
Approach Considerations ,Pharmacologic Therapy ,Stem Cell

Transplantation ,Diet and Activity ,Prevention .
T-cell immune reconstitution using bone marrow transplantation (BMT) is

performed. BMT corrects the immunodeficiency but not the skeletal
abnormalities. BMT can prevent lymphoma. Recently, Bordon et al reported in
the outcome of 16 patients with cartilage hair-hypoplasia who received BMT
Serum electrolyte levels: To detect the presence of acidosis (hyperchloremic,

normal anion gap) and severity of hypokalemia, hyponatremia,
hypophosphatemia, and low bicarbonate concentration ,Blood gases: To detect
metabolic acidosis and the degree of respiratory compensation ,Urine testing:
Findings include low osmolality, glycosuria, and tubular proteinuria (including
generalized amino aciduria) ,Urine electrolyte levels: To detect the loss of
bicarbonate and phosphaturia ,Cystine levels in polymorphonuclear leukocytes
or cultured fibroblasts (for fetuses: chorionic villi or cultured amniotic fluid cells):
Confirms diagnosis of cystinosis .
Diagnosis is based on detection of increased urinary KS excretion (not
constant) and galactosyloligoaccharide excretion in MPS IV. It is confirmed by
the demonstration of enzymatic deficiency in cultured leucocytes or fibroblasts.
Enzymatic study allows other osteochondrodysplasias to be excluded. The
distinction between MPS IVand GM1 gangliosidosis type 3 (see this term) is
often difficult in children, even if 9 out of 59 GLB1 mutations are associated
with MPS IV.
The only treatment for Omenn syndrome is bone marrow transplantation. Without treatment, it is rapidly fatal in infancy.The dis
Prompt treatment of neonatal hypoglycemia and airway obstruction resulting

from micrognathia and glossoptosis. Care of cleft lip and/or cleft palate or
macroglossia and related feeding difficulties, heart defects, skeletal
abnormalities, and urogenital abnormalities by appropriate pediatric specialists.
Speech therapy as needed. Neurodevelopmental assessment to determine
need for special education, occupational therapy, and/or physical therapy.
Diagnosis is based on detection of increased urinary KS excretion (not

constant) and galactosyloligoaccharide excretion in MPS IVB. It is confirmed
by the demonstration of enzymatic deficiency in cultured leucocytes or
fibroblasts. Enzymatic study allows other osteochondrodysplasias to be
excluded. The distinction between MPS IVB and GM1 gangliosidosis type 3
(see this term) is often difficult in children, even if 9 out of 59 GLB1 mutations
are associated with MPS IVB.
No treatment is available for most of these disorders
Genetic Testing Registry: Histiocytosis-lymphadenopathy plus syndrome

These resources from MedlinePlus offer information about the diagnosis and
management of various health conditions,Diagnostic Tests,Drug
Therapy,Surgery and Rehabilitation,Genetic Counseling,Palliative Care.
The focus is on symptomatic therapy, and may include: gastrostomy to provide

adequate calories, hearing aids, cataract removal in infancy, glasses, vitamin
supplementation, primary bile acid therapy, antiepileptic drugs, and possibly
monitoring for hyperoxaluria.
Gene therapy, as well as, bone marrow transplant are also possible treatments
for the disorder, but each have their own risks at this point in time. Bone
marrow transplantation is the more used method between the two, whereas
researchers are still trying to definitively establish the results of gene therapy
treatment. It generally requires a 10/10 HLA matched donor, however, who is
usually a sibling.
Diagnostic Tests
Drug Therapy
Surgery and Rehabilitation
Genetic Counseling
Palliative Care
Diagnostic Tests,Drug Therapy,Surgery and Rehabilitation,Genetic
Counseling,Palliative Care.
Your doctor may recommend medications called chelating agents, which

prompt your organs to release copper into your bloodstream. The copper is
then filtered by your kidneys and released into your urine. Treatment then
focuses on preventing copper from building up again. When liver damage is
severe, a liver transplant may be necessary. Medications:Penicillamine
(Cuprimine, Depen),Trientine (Syprine),Zinc acetate (Galzin).
Funding remains critical and is urgently needed to stop MSD forever. Every
donation will help towards achieving our goal to save these children and those
of future generations. Time is of the essence for MSD families in an effort to
treat their children before harsh symptoms develop and the disease
progresses. Months, weeks and days matter in the race for children to be
treated
Betaine (N,N,N-trimethylglycine) is used to reduce concentrations of

homocysteine by promoting the conversion of homocysteine back to
methionine, i.e., increasing flux through the re-methylation pathway
independent of folate derivatives (which is mainly active in the liver and in the
kidneys).The re-formed methionine is then gradually removed by incorporation
into body protein. The methionine that is not converted into protein is converted
to S-adenosyl-methionine which goes on to form homocysteine again. Betaine
is, therefore, only effective if the quantity of methionine to be removed is small.
Hence treatment includes both betaine and a diet low in methionine
Funding remains critical and is urgently needed to stop MSD forever. Every
donation will help towards achieving our goal to save these children and those
of future generations. Time is of the essence for MSD families in an effort to
treat their children before harsh symptoms develop and the disease
progresses. Months, weeks and days matter in the race for children to be
treated
Methylprednisolone,Prednisolone ,PREDNISOLONE ACETATE

Nitrous oxide ,Lidocaine
1. Kidney Transplantation 2. Total Parenteral Nutrition 3. Hypophysectomy
Enzyme replacement therapy for Hurler syndrome adds a working form of the missing enzyme to the body. The medicine, calle
eatment may require the coordinated efforts of a team of specialists.

Pediatricians, neurologists, endocrinologists, surgeons, specialists who assess
and treat hearing problems (audiologists), specialists who assess and treat
vision problems (ophthalmologists), specialists who assess and treat skeletal
disorders (orthopedists) and other healthcare professionals may need to
systematically and comprehensively plan an affect child’s treatment. Children
with Zellweger spectrum disorders may require a feeding (gastrostomy) tube to
ensure proper intake of calories
These resources address the diagnosis or management of CPT II deficiency:
Baby's First Test
FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach
to Disorders of Fat Oxidation - Information for Clinicians
GeneReview: Carnitine Palmitoyltransferase II Deficiency
Genetic Testing Registry: Carnitine palmitoyltransferase II deficiency
Genetic Testing Registry: Carnitine palmitoyltransferase II deficiency, infantile
Genetic Testing Registry: Carnitine palmitoyltransferase II deficiency, late-
onset
Genetic Testing Registry: Carnitine palmitoyltransferase II deficiency, lethal
neonatal
These resources from MedlinePlus offer information about the diagnosis and
management of various health conditions:
Diagnostic Tests
Drug Therapy
Surgery and Rehabilitation
Genetic Counseling
Palliative Care
No specific treatment or cure exists. Affected children usually need total parenteral nutrition through a central venous catheter.
Treatment consists of immunoglobulin replacement therapy, which replenishes Ig subtypes that the person lack. This treatmen
The treatment can be specific to the disorder, such as in the case of Refsum
disease, which includes elimination of the toxic substance.
Because phytanic acid is exclusively of dietary origin (butter, cheese, beef,

lamb, and some fish), its restriction can reduce its blood and tissue levels in 1-
2 years, and the neurotoxic events can be significantly limited.
Long-term follow-up has shown that dietary restriction improves peripheral-
nerve and cardiac function and stabilizes the retinal abnormalities and hearing
deficit.
In sick patients, phytanic acid levels can be rapidly lowered with plasma
exchange; this may reverse some symptoms. Alternative means to decrease
phytanic acid levels is w-oxidation by means of the cytochrome P-450 enzyme;
however, this line of therapy remains experimental.
Extracorporeal apheresis is another therapeutic approach that may result in
in long-term improvement or stabilization in patients with progressive Refsum
disease.
Transplant of stem cells taken from the bone marrow of a healthy, matching
donor, usually by the age of about 3 months, is generally considered the best
treatment for SCID.
No treatment is available to cure or slow down the progression of aspartylglucosaminuria. Bone marrow transplants have been
ody. The medicine, called laronidase (Aldurazyme), is given through a vein (IV, intravenously). Talk to your health care provider for more in
central venous catheter. Further worsening of liver damage should however be avoided if possible. Diarrhea will likely continue even though
care provider for more information.Bone marrow transplant has been used in several people with this condition. The treatment has had mixe
ely continue even though food stops passing through the gastrointestinal system.They can subsequently be managed with tube feeding, an
e treatment has had mixed results.Other treatments depend on the organs that are affected
ed with tube feeding, and some may be weaned from nutritional support during adolescence.
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SCT (hematopoietic stem cell transplantation)

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Excel 97-2003

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Disease id

LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA

EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS

MITOCHONDRIAL COMPLEX IV DEFICIENCY

Breast cancer, Burns, Filariasis, Gynecologic cancers

joint pain,knees, early-onset arthritis, and a waddling walk,mul

Medical Therapy,Surgical Therapy,Knee,tibial tubercle, hypoplasia of

BILE ACID SYNTHESIS DEFECT,

OMIM:230900 GAUCHER DISEASE, TYPE II GBA (2629) intrinsic

OMIM:214500 CHEDIAK-HIGASHI SYNDROME LYST (1130) extrinsic

OMIM:230000 FUCOSIDOSIS FUCA1 (2517) Intrinsic

OMIM:276700 TYROSINEMIA, TYPE I FAH (2184) Intrinsic

OMIM:607624 GRISCELLI SYNDROME, TYPE 2 RAB27A (5873) Intrinsic

OMIM:607015 HURLER-SCHEIE SYNDROME IDUA (3425) extrinsic

NIEMANN-PICK DISEASE, TYPE

OMIM:252500 MUCOLIPIDOSIS II ALPHA/BETA GNPTAB (79158) Intrinsic

MYOPATHY, LACTIC ACIDOSIS,

GLYCOGEN STORAGE DISEASE

OMIM:231670 GLUTARIC ACIDEMIA I GCDH (2639) Intrinsic

OMIM:235200 HEMOCHROMATOSIS HFE (3077) extrinsic

GLYCOGEN STORAGE DISEASE

OMIM:154800 MAST CELL DISEASE KIT (3815) intrinsic

OMIM:219700 CYSTIC FIBROSIS CFTR (1080) extrinsic

OMIM:230500 GM1-GANGLIOSIDOSIS, TYPE I GLB1 (2720) extrinsic

OMIM:205400 TANGIER DISEASE ABCA1 (19) extrinsic

OMIM:607196 MICROCEPHALY, AMISH TYPE SLC25A19 (60386) extrinsic

INTERSTITIAL LUNG AND LIVER

TYLOSIS WITH ESOPHAGEAL

NIEMANN-PICK DISEASE, TYPE

PCCA (5095), PCCB

GLYCOGEN STORAGE DISEASE

OMIM:215140 GREENBERG DYSPLASIA LBR (3930) extrinsic

OMIM:607330 LATHOSTEROLOSIS SC5D (6309) extrinsic

OMIM:203800 ALSTROM SYNDROME ALMS1 (7840) extrinsic

GLYCOGEN STORAGE DISEASE

OMIM:231000 GAUCHER DISEASE, TYPE III GBA (2629) Intrinsic

OMIM:610377 MEVALONIC ACIDURIA MVK (4598) Intrinsic

GLYCOGEN STORAGE DISEASE

GAUCHER DISEASE, PERINATAL

OMIM:607016 SCHEIE SYNDROME IDUA (3425) extrinsic

OMIM:231050 GELEOPHYSIC DYSPLASIA 1 ADAMTSL2 (9719) Intrinsic

OMIM:230800 GAUCHER DISEASE, TYPE I GBA (2629) extrinsic

OMIM:603903 SICKLE CELL ANEMIA HBB (3043) intrinsic

OMIM:607115 CINCA SYNDROME NLRP3 (114548) Intrinsic

OMIM:609628 MAJEED SYNDROME LPIN2 (9663) extrinsic

NIEMANN-PICK DISEASE, TYPE

NEUTRAL LIPID STORAGE

OMIM:267000 PERLMAN SYNDROME DIS3L2 (129563) intrinsic

OMIM:602390 HEMOCHROMATOSIS, TYPE 2A HFE2 (148738) extrinsic

HBB (3043), LCRB

GLYCOGEN STORAGE DISEASE

OMIM:269921 SIALURIA GNE (10020) intrinsic

OMIM:602361 GRACILE BONE DYSPLASIA FAM111A (63901) extrinsic

OMIM:207900 ARGININOSUCCINIC ACIDURIA ASL (435) intrinsic

OMIM:272800 TAY-SACHS DISEASE HEXA (3073) intrinsic

OMIM:237500 DUBIN-JOHNSON SYNDROME ABCC2 (1244) intrinsic

OMIM:614185 GELEOPHYSIC DYSPLASIA 2 FBN1 (2200) extrinsic

OMIM:606593 LIG4 SYNDROME LIG4 (3981) intrinsic

GLYCOGEN STORAGE DISEASE

INFANTILE SIALIC ACID

PERIODIC FEVER, FAMILIAL,

BILE ACID SYNTHESIS DEFECT,

COCKAYNE SYNDROME, TYPE

MULTIPLE ACYL-COA ETFA (2108), ETFB