Agranulocytosis

Aplastic Anemia

Atropine-like Side Effects

Cardiotoxicity

Clozapine
Chloramphenicol

NSAIDs

Benzene
Tricyclics
Doxorubicin

Daunorubicin

Cartilage Damage in
children
Cinchonism
Coronary Steal Phenomenon

Fluoroquinolones (Ciprofloxacin & Norfloxacin)

Corneal micro deposits

Cough
Diabetes Insipidus
Disulfiram-like effect

Amiodarone
ACE Inhibitors
Lithium
Metronidazole

Sulfonylureas (1st generation)

Antipsychotics (Thioridazine, Haloperidol, Chlorpromazine)

Extrapyramidal Side
Effects
Fanconis Syndrome
Fatal Hepatotoxicity
(necrosis)
Gingival Hyperplasia
Gray Baby Syndrome
Gynecomastia

Hand Foot Syndrome

Hemolytic Anemia in G6PDdeficiency

Quinidine
Dipyridamole

Tetracycline
Valproic Acid

Halothane

Acetaminophen
Phenytoin
Chloramphenicol
Cimetidine

Azoles

Spironolactone

Digitalis
Estrogen & testosterone
INH & ethionamide
Clomiphine
Phenytoin
Reserpine & Methyldopa
5Flurouracil (5-FU)
Sulfonamides

Isoniazid

Aspirin

Ibuprofen

Primaquine

Hemorrhagic Cystitis

Cyclophosphamide
Ifosamide (Treat by Mesna & Acetylcysteine Bladder Wash)

Hepatitis

Isoniazid

Hot Flashes, Flushing

Niacin

Tamoxifen

Ca++ Channel Blockers

Hypertension: Postural
Hypertension: Rebound
Increased intra cranial
tension ( ICT)

Prazocin
Clonidine withdrawal
Amiodarone
Hypervitaminosis A
OCPs
Tetracycline
Quinolones
Barbiturates

Phenytoin

Carbamazepine

Rifampin
Cimetidine
Erythromycin
Ketoconazole
Isoniazid (INH) [remember CEKI]
Methicillin

NSAIDs (except Aspirin)

Furosemide

Sulfonamides

Induce CP450

Inhibit CP450

Interstitial Nephritis

Milk Alkali Syndrome

Monday Disease

Nephrotoxicity

Orange Body Fluids

Osteoporosis
Pancreatitis
Photosensitivity
Positive Coombs Test
Pulmonary Fibrosis
Rabbit Syndrome (Perioral
tremors)
Red Man Syndrome
Severe HTN with Tyramine

Calcium Carbonate (CaCo3)

Nitroglycerin Industrial exposure tolerance during week loss
of tolerance during weekend headache, tach, dizziness upon reexposure
Cephaloridine
Gentamycin
Amphotericin
Rifampin
Heparin
Corticosteroids
L-Asparginase
Glucocorticoids
Lomefloxacin
Pefloxacin
Methyldopa
Bleomycin
Amiodarone
Phenothiazines
Vancomycin (rapid IV)
MAOIs

SLE- Drug Induced

[Anti Histone Antibody
Characteristic of this]

Chloropromazine
Hydralazine
Isoniazid
Methyldopa
Procainamide
Quinidine [ remember CHIMP -Q]

Tardive Dyskinesia
Tinnitus

Antipsychotics (Thioridazine, Haloperidol, Chlorpromazine)

Aspirin
Quinidine

Torsades de Pontis

Terfanadine

Most Common's in medical science

1 Tumor arising from bone in adults
Adrenal Medullary Tumor Adults
Adrenal Medullary Tumor Children
Bacterial Meningitis adults
Bacterial Meningitis elderly
Bacterial Meningitis newborns
Bacterial Meningitis toddlers
Bone Tumors
Brain Tumor Child
Brain Tumor Adult
Breast Carcinoma
Breast Mass
Bug in Acute Endocarditis
Bug in debilitated, hospitalized pneumonia pt
Bug in Epiglottitis
Bug in GI Tract
Bug in IV drug user bacteremia / pneumonia
Bug in PID
Bug in Subacute Endocarditis
Cardiac 1 Tumor Adults
Cardiac 1 Tumor Child
Cardiac Tumor Adults
Cardiomyopathy
Cause of 2 HTN
Cause of Addisons
Cause of Congenital Adrenal Hyperplasia

Multiple Myeloma
Pheochromocytoma
Neuroblastoma
Neisseria meningitidis
Strep pneumoniae
E. coli
Hib
Metasteses from Breast & Prostate
Medulloblastoma (cerebellum)
Astrocytoma (including Glioblastoma Multiforme) then: mets,
meningioma, Schwannoma
Invasive Duct Carcinoma
Fibrocystic Change (Carcinoma is the most common is postmenopausal women)
Staph aureus
Klebsiella
Hib
Bacteroides (2nd E. coli)
Staph aureus
N. Gonnorrhoeae
Strep Viridans
Myxoma Ball Valve
Rhabdomyoma
Metasteses
Dilated (Congestive) Cardiomyopathy
Renal Disease
Autoimmune (2nd infection)
21-Hydroxylase Deficiency (then, 11-)

Cause of Cushings
Cause of death in Alzheimer pts
Cause of death in Diabetics
Cause of Death in SLE pts.
Cause of Dementia
Cause of Dementia (2nd most common)
Cause of food poisoning
Cause of mental retardation
Cause of mental retardation (2nd most common)
Cause of preventable blindness
Cause of Pulmonary HTN
Cause of SIADH
Chromosomal disorder
Congenital cardiac anomaly
Congenital early cyanosis
Coronary Artery thrombosis
Demyelinating Disease
Dietary Deficiency
Disseminated opportunistic infection in AIDS
Esophageal cancer
Fatal genetic defect in Caucasians
Female Tumor
Form of Amyloidosis
Form of Tularemia
Gynecologic malignancy
Heart Murmur
Heart Valve in bacterial endocarditis
Heart Valve in bacterial endocarditis in IV drug
users
Heart Valve involved in Rheumatic Fever
Hereditary Bleeding Disorder
Liver 1 Tumor
Liver Disease
Location of Adult brain tumors
Location of Childhood brain tumors
Lysosomal Storage Disease
Motor Neuron Disease
Neoplasm Child
Neoplasm Child (2nd most common)
Nephrotic Syndrome
Opportunistic infection in AIDS
Ovarian Malignancy

Exogenous Steroid Therapy (then, 1 ACTH, Adrenal

Adenoma, Ectopic ACTH)
Pneumonia
MI
Lupus Nephropathy Type IV (Diffuse Proliferative)
Alzheimers
Multi-Infarct Dementia
Staph aureus
Downs
Fragile X
Chlamydia
COPD
Small Cell Carcinoma of the Lung
Downs
VSD (membranous > muscular)
Tetralogy of Fallot
LAD
Multiple Sclerosis
Iron
CMV (Pneumocystis carinii is most common overall)
SCCA
Cystic Fibrosis
Leimyoma
Immunologic (Bence Jones protein in multiple myeloma is also
called the Amyloid Light Chain)
Ulceroglandular
Endometrial Carcinoma
Mitral Valve Prolapse
Mitral
Tricuspid
Mitral then Aortic
Von Willebrands Disease
Hepatoma
Alcoholic Liver Disease
Above Tentorium
Below Tentorium
Gauchers
ALS
Leukemia
Medulloblastoma of brain (cerebellum)
Membranous Glomerulonephritis
PCP
Serous Cystadenoma

Ovarian Tumor
Pancreatic Tumor
Patient with ALL / CLL / AML / CML
Patient with Goodpastures
Patient with Reiters
Pituitary Tumor
Primary Hyperparathyroidism
Pt. With Hodgkins
Pt. With Minimal Change Disease
Secondary Hyperparathyroidism
Sexually transmitted disease
Site of Diverticula
Site of metastasis
Site of metastasis (2nd most common)
Sites of atherosclerosis
Skin Cancer
Stomach cancer
Testicular Tumor
Thyroid Cancer
Tracheoesophageal Fistula
Tumor of Infancy
Type of Hodkins
Type of Non-Hodgkins
Vasculitis (of medium & small arteries)
Viral Encephalitis

Hamartoma
Adeno (usually in the head)
ALL - Child / CLL - Adult over 60 / AML - Adult over 60 / CML
- Adult 35-50
Young male
Male
Prolactinoma (2nd Somatotropic Acidophilic Adenoma)
Adenomas (followed by: hyperplasia, then carcinoma)
Young Male (except Nodular Sclerosis type Female)
Young Child
Hypocalcemia of Chronic Renal Failure
Chlamydia
Sigmoid Colon
Regional Lymph Nodes
Liver
Abdominal aorta > coronary > popliteal > carotid
Basal Cell Carcinoma
Adeno
Seminoma
Papillary Carcinoma
Lower esophagus joins trachea / upper esophagus blind pouch
Hemangioma
Mixed Cellularity (versus: lymphocytic predominance,
lymphocytic depletion, nodular sclerosis)
Follicular, small cleaved
Temporal Arteritis
HSV

Hallmark Findings
Albumino-Cytologic
Dissociation
Antiplatelet Antibodies
Arachnodactyly
Aschoff Bodies
Auer Rods
Autosplenectomy
Babinski
Basophilic Stippling of RBCs
Bence Jones Protein

Guillain-Barre (markedly increased protein in CSF with only

modest increase in cell count)
idiopathic thrombocytopenic purpura
Marfans
rheumatic fever
acute promyelocytic leukemia (AML type M3)
sickle cell anemia
UMN lesion
lead poisoning
multiple myeloma free light chains (either kappa or lambda)

Birbeck Granules
Blue Bloater

Waldenstroms macroglobinemia
histiocytosis X (eosinophilic granuloma)
Chronic Bronchitis

Boot-Shaped Heart
Bouchards Nodes
Boutonnieres Deformity
Brown Tumor
Brushfield Spots
Call-Exner Bodies
Cardiomegaly with Apical
Atrophy
Chancre
Chancroid
Charcot Triad
Charcot-Leyden Crystals
Cheyne-Stokes Breathing
Chocolate Cysts
Chvosteks Sign
Clue Cells
Codmans Triangle
Cold Agglutinins
Condyloma Lata
Cotton Wool Spots
Councilman Bodies
Crescents In Bowmans
Capsule
Currant-Jelly Sputum
Curschmanns Spirals
Depigmentation Of
Substantia Nigra
Donovan Bodies
Eburnation
Ectopia Lentis
Erythema Chronicum
Migrans
Fatty Liver
Ferruginous Bodies
Ghon Focus / Complex
Gowers Maneuver
Heberdens Nodes
Heinz Bodies
Hemorrhagic Urticaria
Heterophil Antibodies

lid windowtext .75pt; msoborder-top-alt:solid

Tetralogy of Fallot
osteoarthritis (PIP)
rheumatoid arthritis
hyperparathyroidism
Downs
granulosa cell tumor
Chagas Disease
1 Syphilis
Haemophilus ducreyi
multiple sclerosis (nystagmus, intention tremor, scanning speech)
bronchial asthma
cerebral lesion
endometriosis
Hypocalcemia facial spasm in tetany
Gardnerella vaginitis
osteosarcoma
Mycoplasma pneumoniae

infectious mononucleosis
2 Syphilis
HTN
dying hepatocytes
rapidly progressive (crescentic glomerulonephritis)

Klebsiella
bronchial asthma
Parkinsons
granuloma inguinale (STD)
osteoarthritis (polished, ivory-like appearance of bone)
Marfans
Lyme Disease
Alcoholism
asbestosis
Tuberculosis (1 & 2 , respectively)
Duchennes MD use of arms to stand
Osteoarthritis (DIP)
G6PDH Deficiency
Henoch-Schonlein
infectious mononucleosis (EBV)

windowtext .75pt;msoborder-left-alt:solid
windowtext .75pt;
padding:0in 5.4pt 0in
5.4pt">
infectious mononucleosis
(EBV)
Hirano Bodies
Hypersegmented PMNs
Hypochromic Microcytic
RBCs
Jarisch-Herxheimer
Reaction
Joint Mice
Kaussmaul Breathing
Keratin Pearls
Keyser-Fleischer Ring
Kimmelstiel-Wilson Nodules
Koilocytes
Koplik Spots
Lewy Bodies
Lines of Zahn
Lisch Nodules
Lumpy-Bumpy IF Glomeruli
McBurneys Sign
Michealis-Gutmann Bodies
Monoclonal Antibody Spike
Myxedema
Negri Bodies
Neuritic Plaques
Neurofibrillary Tangles
Non-pitting Edema
Notching of Ribs
Nutmeg Liver
Painless Jaundice
Pannus
Pautriers Microabscesses
Philadelphia Chromosome

Alzheimers
Megaloblastic anemia
iron-deficiency anemia

Syphilis over-aggressive treatment of an asymptomatic pt. that

causes symptoms 2 to rapid lysis
osteoarthritis (fractured osteophytes)
acidosis
SCCA
Wilsons
diabetic nephropathy
HPV
measles
Parkinsons (eosinophilic inclusions in damaged substantia nigra
cells)
arterial thrombus
neurofibromatosis (von Recklinhausens disease)
poststreptococcal glomerulonephritis
appendicitis (McBurneys Point is 2/3 of the way from the umbilicus
to anterior superior iliac spine)
Malakoplakia
multiple myeloma this is called the M protein (usually IgG or IgA)

MGUS
hypothyroidism
rabies
Alzheimers
Alzheimers
Myxedema

Anthrax Toxin
Coarctation of Aorta
CHF
pancreatic CA (head)
rheumatoid arthritis
mycosis fungoides (cutaneous T-cell lymphoma)
CML

ALL

Pick Bodies
Pink Puffer
Podagra
Port-Wine Stain
Posterior Anterior Drawer
Sign
Posterior Anterior Drawer
Sign
Psammoma Bodies

Pseudohypertrophy
Punched-Out Bone Lesions
Rash on Palms & Soles
Red Morning Urine
Reed-Sternberg Cells
Reid Index Increased
Reinke Crystals
Rouleaux Formation
S3 Heart Sound

S4 Heart Sound
Schwartzman Reaction
Simian Crease
Smith Antigen
Soap Bubble on X-Ray
Spike & Dome Glomeruli
String Sign on X-ray
Target Cells
Tendinous Xanthomas
Thyroidization of Kidney
Tophi
Tram-Track Glomeruli
Trousseaus Sign

Virchows Node

Picks Disease
Emphysema
Centroacinar smoking
deficiency
gout (MP joint of hallux)
Hemangioma

Panacinar - 1-antitrypsin

Hemangioma
tearing of the ACL
Papillary adenocarcinoma of the thyroid

Serous papillary cystadenocarcinoma of the ovary

Meningioma

Mesothelioma
Duchenne muscular dystrophy
multiple myeloma
2 Syphilis

RMSF
paroxysmal nocturnal hemoglobinuria
Hodgkins Disease
chronic bronchitis
Leydig cell tumor
multiple myeloma RBCs stacked as poker chips
LR Shunt (VSD, PDA)

Mitral Regurg

LV Failure
Pulmonary Stenosis

Pulmonary HTN
Neisseria meningitidis impressive rash with bugs
Downs
SLE (also anti-dsDNA)
giant cell tumor of bone
membranous glomerulonephritis
Crohns bowel wall thickening
Thalassemia
Familial Hypercholesterolemia
chronic pyelonephritis
gout
membranoproliferative glomerulonephritis
visceral ca, classically pancreatic (migratory thrombophlebitis)

hypocalcemia (carpal spasm)

These are two entirely different disease processes and different
signs, but they unfortunately have the same name.
supraclavicular node enlargement by metastatic carcinoma of the

Warthin-Finkeldey Giant
Cells
WBC Casts
Wire Loop Glomeruli
AFP in amniotic fluid or
mothers serum
Uric Acid

FEV1/FVC

stomach
Measles
pyelonephritis
lupus nephropathy, type IV
Spina Bifida

Anencephaly
Gout

Lesch Nyhan

Myeloproliferative Disorders

Diuretics (Loop & Thiazides)

COPD

Named Diseases List

Addisons Disease
Addisonian Anemia
Albrights Syndrome
Alports Syndrome
Alzheimers
Argyll-Robertson Pupil

primary adrenocortical deficiency

pernicious anemia (antibodies to intrinsic factor or parietal cells IF Vit B12 megaloblastic anemia)
polyostotic fibrous dysplasia, precocious puberty, caf au lait spots, short stature, young girls
hereditary nephritis with nerve deafness
progressive dementia

loss of light reflex constriction (contralateral or bilateral)

Prostitutes Eye - accommodates but does not react

Arnold-Chiari Malformation
Barretts
Bartters Syndrome
Beckers Muscular
Dystrophy
Bells Palsy
Bergers Disease
Bernard-Soulier Disease
Berry Aneurysm

cerebellar tonsil herniation

columnar metaplasia of lower esophagus ( risk of adenocarcinoma)
hyperreninemia
similar to Duchenne, but less severe (deficiency in dystrophin protein)

Pathognomonic for 3Syphilis

Bowens Disease
Briquets Syndrome

CNVII palsy (entire face; recall that UMN lesion only affects lower face)
IgA nephropathy
defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein)
circle of Willis (subarachnoid bleed)

often associated with ADPKD

carcinoma in situ on shaft of penis ( risk of visceral ca)
somatization disorder

Brocas Aphasia
Brown-Sequard
Brutons Disease
Budd-Chiari
Buergers Disease
Burkitts Lymphoma

Motor Aphasia intact comprehension

hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN)
X-linked agammaglobinemia
post-hepatic venous thrombosis
acute inflammation of small, medium arteries painful ischemia gangrene
small noncleaved cell lymphoma EBV

psychological: multiple physical complaints without physical pathology

Caisson Disease
Chagas Disease
Chediak-Higashi Disease
Conns Syndrome
Coris Disease
Creutzfeldt-Jakob
Crigler-Najjar Syndrome
Crohns

Curlings Ulcer
Cushings
Cushings Ulcer
de Quervains Thyroiditis
DiGeorges Syndrome
Downs Syndrome
Dresslers Syndrome
Dubin-Johnson Syndrome
Duchenne Muscular
Dystrophy
Edwards Syndrome
Ehlers-Danlos
Eisenmengers Complex
Erb-Duchenne Palsy
Ewing Sarcoma
Eyrthroplasia of Queyrat
Fanconis Syndrome

8:14 translocation

gas emboli
Trypansoma infection sleeping disease, cardiomegaly with apical atrophy, achlasia
Phagocyte Deficiency: neutropenia, albinism, cranial & peripheral neuropathy

repeated infections
primary aldosteronism
glycogen storage disease (debranching enzyme deficiency)
prion infection cerebellar & cerebral degeneration
congenital hyperbilirubinemia (unconjugated)

glucuronyl transferase deficiency

IBD; ileocecum, transmural, skip lesions, lymphocytic infiltrate, granulomas
(contrast to UC: limited to colon, mucosa & submucosa, crypt abscesses,
pseudopolyps, colon cancer risk)
acute gastric ulcer associated with severe burns
Disease: hypercorticism 2 to ACTH from pituitary (basophilic adenoma)

Syndrome: hypercorticism of all other causes (1 adrenal or ectopic)

acute gastric ulcer associated with CNS trauma
self-limiting focal destruction (subacute thyroiditis)
thymic hypoplasia T-cell deficiency

hypoparathyroidism
trisomy 21 or translocation
Post-MI Fibrinous Pericarditis autoimmune
congenital hyperbilirubinemia (conjugated)

striking brown-to-black discoloration of the liver (centilobular portion)

deficiency of dystrophin protein MD X-linked recessive
trisomy 18

rocker-bottom feet, low ears, heart disease

defective collagen
late cyanotic shunt (RL) pulmonary HTN & RVH 2 to long-standing VSD, ASD, or PDA
trauma to superior trunk of brachial plexus Waiters Tip
undifferentiated round cell tumor of bone
carcinoma in situ on glans penis
impaired proximal tubular reabsorption 2 to lead poisoning or Tetracycline

(glycosuria,

hyperphosphaturia, aminoaciduria, systemic acidosis)

Feltys Syndrome
Gardners Syndrome
Gauchers Disease

Gilberts Syndrome
Glanzmann's
Thrombasthenia
Goodpastures
Graves Disease
Guillain-Barre

rheumatoid arthritis, neutropenia, splenomegaly

adenomatous polyps of colon plus osteomas & soft tissue tumors
Lysosomal Storage Disease glucocerebrosidase deficiency
hepatosplenomegaly, femoral head & long bone erosion, anemia
benign congenital hyperbilirubinemia (unconjugated)
defective glycoproteins on platelets
autoimmune: abs to glomerular & alveolar basement membranes
autoimmune hyperthyroidism (TSI)
idiopathic polyneuritis (ascending muscle weakness & paralysis; usually self-limiting)

Hamman-Rich Syndrome
Hand-Schuller-Christian
Hashimotos Thyroiditis
Hashitoxicosis
Henoch-Schonlein purpura

Hirschprungs Disease
Horners Syndrome
Huntingtons
Jacksonian Seizures
Jobs Syndrome
Kaposi Sarcoma
Kartageners Syndrome
Kawasaki Disease
Klinefelters Syndrome
Kluver-Bucy
Krukenberg Tumor

idiopathic pulmonary fibrosis

chronic progressive histiocytosis
autoimmune hypothyroidism
initial hyperthyroidism in Hashimotos Thyroiditis that precedes hypothyroidism
hypersensivity vasculitis

hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement)

associated with upper respiratory infections

aganglionic megacolon
ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2 to a pancoaset tumour)
progressive degeneration of caudate nucleus, putamen & frontal cortex; AD
epileptic events originating in the primary motor cortex (area 4)
immune deficiency: neutrophils fail to respond to chemotactic stimuli
malignant vascular tumor (HHV8 in homosexual men)
immotile cilia 2 to defective dynein arms infection, situs inversus, sterility
mucocutaneous lymph node syndrome (lips, oral mucosa)
47, XXY
bilateral lesions of amygdala (hypersexuality; oral behavior)
adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to the
ovaries

Laennecs Cirrhosis
Lesch-Nyhan
Letterer-Siwe
Libman-Sacks
Lou Gehrigs
Mallory-Weis Syndrome
Marfans
McArdles Disease
Meckels Diverticulum
Meigs Syndrome
Menetriers Disease
Monckebergs
Arteriosclerosis
Munchausen Syndrome
Nelsons Syndrome

alcoholic cirrhosis
HGPRT deficiency

gout, retardation, self-mutilation

acute disseminated Langerhans cell histiocytosis
endocarditis with small vegetations on valve leaflets

associated with SLE

Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons
bleeding from esophagogastric lacerations 2 to wretching (alcoholics)
connective tissue defect
glycogen storage disease (muscle phosphorylase deficiency)
rule of 2s: 2 inches long, 2 feet from the ileocecum, in 2% of the population

embryonic duct origin; may contain ectopic tissue (gastric, pancreatic, etc.)
Triad: ovarian fibroma, ascites, hydrothorax
giant hypertrophic gastritis (enlarged rugae; plasma protein loss)
calcification of the media (usually radial & ulnar aa.)
factitious disorder (consciously creates symptoms, but doesnt know why)
1 Adrenal Cushings surgical removal of adrenals loss of negative feedback to pituitary
Pituitary Adenoma

Niemann-Pick
Osler-Weber-Rendu
Syndrome
Pagets Disease
Pancoast Tumor
Parkinsons
Peutz-Jeghers Syndrome

Lysosomal Storage Disease sphingomyelinase deficiency

foamy histiocytes
Hereditary Hemorrhagic Telangiectasia
abnormal bone architecture (thickened, numerous fractures pain)
bronchogenic tumor with superior sulcus involvement Horners Syndrome
dopamine depletion in nigrostriatal tracts
melanin pigmentation of lips, mouth, hand, genitalia plus hamartomatous polyps of small intestine

Peyronies Disease
Picks Disease
Plummers Syndrome
Plummer-Vinson
Pompes Disease
Potts Disease
Potters Complex
Raynauds
Reiters Syndrome

subcutaneous fibrosis of dorsum of penis

progressive dementia similar to Alzheimers
hyperthyroidism, nodular goiter, absence of eye signs (Plummers = Graves - eye
signs)
esophageal webs & iron-deficiency anemia, SCCA of esophagus
glycogen storage disease cardiomegaly
tuberculous osteomyelitis of the vertebrae
renal agenesis oligohydramnios hypoplastic lungs, defects in extremities
Disease: recurrent vasospasm in extremities

Phenomenon: 2 to underlying disease (SLE or scleroderma)

urethritis, conjunctivitis, arthritis non-infectious (but often follows infections), HLA-B27,
polyarticular

Reyes Syndrome
Riedels Thyroiditis
Rotor Syndrome
Sezary Syndrome
Shavers Disease
Sheehans Syndrome
Shy-Drager
Simmonds Disease
Sipples Syndrome
Sjogrens Syndrome
Spitz Nevus
Stein-Leventhal
Stevens-Johnson Syndrome
Stills Disease
Takayasus arteritis
Tay-Sachs
Tetralogy of Fallot
Tourettes Syndrome
Turcots Syndrome
Turners Syndrome
Vincents Infection
von Gierkes Disease
von Hippel-Lindau
von Recklinghausens
von Recklinghausens Disease
of Bone
von Willebrands Disease
Waldenstroms
macroglobinemia

microvesicular fatty liver change & encephalopathy

2 to aspirin ingestion in children following viral illness

idiopathic fibrous replacement of thyroid
congenital hyperbilirubinemia (conjugated)

similar to Dubin-Johnson, but no discoloration of the liver

leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)
aluminum inhalation lung fibrosis
postpartum pituitary necrosis
parkinsonism with autonomic dysfunction & orthostatic hypotension
pituitary cachexia
MEN type IIa (pheochromocytoma, thyroid medulla, parathyroid)
triad: dry eyes, dry mouth, arthritis risk of B-cell lymphoma
juvenile melanoma (always benign)
polycystic ovary
erythema multiforme, fever, malaise, mucosal ulceration (often 2 to infection or sulfa drugs)
juvenile rheumatoid arthritis (absence of rheumatoid factor)
aortic arch syndrome

loss of carotid, radial or ulnar pulses

gangliosidosis (hexosaminidase A deficiency GM2 ganglioside)
VSD, overriding aorta, pulmonary artery stenosis, right ventricular hypertrophy
involuntary actions, both motor and vocal
adenomatous polyps of colon plus CNS tumors
45, XO
trench mouth - acute necrotizing ulcerative gingivitis
glycogen storage disease (G6Pase deficiency)
hemangioma (or hemangioblastoma)

adenomas of the viscera, especially renal cell carcinoma

neurofibromatosis & caf au lait spots
osteitis fibrosa cystica (brown tumor) 2 to hyperparathyroidism
defect in platelet adhesion 2 to deficiency in vWF
proliferation of IgM-producing lymphoid cells

Wallenbergs Syndrome
Waterhouse-Friderichsen
Webers Syndrome
Wegeners Granulomatosis
Weils Disease
Wermers Syndrome
Wernickes Aphasia
Wernicke-Korsakoff
Syndrome
Whipples Disease
Wilsons Disease
Wiskott-Aldrich Syndrome
Wolff-Chaikoff Effect
Zenkers Diverticulum
Zollinger-Ellison

Posterior Inferior Cerebellar Artery (PICA) thrombosis Medullary Syndrome

Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain & temp
catastrophic adrenal insufficiency 2 to hemorrhagic necrosis (eg, DIC)

often 2 to meningiococcemia
Paramedian Infarct of Midbrain

Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body)

necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.
leptospirosis
MEN type I (thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary)
Sensory Aphasia impaired comprehension
thiamine deficiency in alcoholics; bilateral mamillary bodies (confusion, ataxia, ophthalmoplegia)
malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis
hepatolenticular degeneration (copper accumulation & decrease in ceruloplasmin)
immunodeficiency: combined B- &T-cell deficiency (thrombocytopenia & eczema)
high iodine level ( )s thyroid hormone synthesis
esophageal; cricopharyngeal muscles above UES
gastrin-secreting tumor of pancreas (or intestine) acid intractable ulcers, Increased gastrin +
Increased Acid Output.

SELECTED GENETIC DISORDERS

Disease

Category

Pathogenesis / Heredity

Pathology, Cardinal
Symptoms

Cystic Fibrosis

Autosomal Recessive. CFTR gene

defect on Chrom 7 ------> No Cltransport and failure to hydrate
mucous secretions (no NaCl
transport) ------> excessively
viscous mucoid exocrine secretions

Meconium ileus (caused

by thick, mucoid
meconium), respiratory
bronchiectasis,
Pseudomonas
pneumonia, pancreatic
insufficiency, hypertonic
(high Cl- concentration)
sweat.

Fanconi Anemia

Autosomal Recessive congenital

pancytopenia.

Normocytic anemia with

neutropenia.

Short stature,

microcephaly,
hypogenitalism,
strabismus, anomalies
of the thumbs, radii,
and kidneys, mental
retardation, and
microphthalmia.
Hartnup's Disease

Autosomal Recessive. Defect in GI

uptake of neutral amino acids -----> malabsorption of tryptophan
(niacin precursor) ------> niacin
deficiency among other things.

Pellagra-like syndrome
(diarrhea, dementia,
dermatitis), lightsensitive skin rash,
temporary cerebellar
ataxia.

Kartagener's
Syndrome

Autosomal Recessive. Defect in

dynein arms ------> lost motility of
cilia

Recurrent
sinopulmonary
infections (due to
impaired ciliary tract).
Situs inversus, due to
impaired ciliary motion
during embryogenesis:
lateral transposition of
lungs, abdominal and
thoracic viscera are on
opposite sides of the
body as normal. Possible
dextrocardia, male
sterility.

Pyruvate
Dehydrogenase
Deficiency

Autosomal Recessive. Pyruvate

Dehydrogenase deficiency ------>
buildup of lactate and pyruvate -----> lactic acidosis.

Neurologic defects.

Xeroderma
Pigmentosum

Autosomal Recessive. Defect in

DNA repair, inability to repair

Dry skin, melanomas,

pre-malignant lesions,

Treatment: Increase
intake of ketogenic
nutrients (leucine,
lysine) ------> increase
formation of AcetylCoA from other
sources.

thymine dimers resulting from UV- other cancers.

light exposure ------> excessive skin Ophthalmic and
damage and skin cancer.
neurologic abnormalities.
Familial
Autosomal
Hypercholesterolemia Dominant
Disorders

Autosomal Dominant. LDLReceptor defect.

Heterozygous:
accelerated
atherosclerosis.
Homozygous: accelerated
atherosclerosis, MI by
age 35, xanthomas.

Hereditary
Hemorrhagic
Telangiectasia (OslerWeber-Rendu
Syndrome)

Autosomal
Dominant
Disorders

Autosomal Dominant.

Telangiectasias of skin
and mucous membranes.

Hereditary
Spherocytosis

Autosomal
Dominant
Disorders

Autosomal Dominant. Band-3

deficiency in RBC membrane ------>
spherical shape to cells. Other RBC
structural enzyme deficiencies can
cause it, too.

Sequestration of
spherocytes in spleen -----> hemolytic anemia.

Huntington's Disease

Autosomal
Dominant
Disorders

Autosomal Dominant, 100%

penetrance.

Progressive dementia
with onset in adulthood,
choreiform movements,
Genetic defect on Chrom 4 ------ athetosis.

> atrophy of caudate nuclei,

putamen, frontal cortex.
Marfan's Syndrome

Autosomal
Dominant
Disorders

Autosomal Dominant. Fibrillin

deficiency ------> faulty scaffolding
in connective tissue (elastin has no
anchor).

Arachnodactyly,
dissecting aortic
aneurysms, ectopia lentis
(subluxation of lens),
mitral valve prolapse.

Neurofibromatosis
(Von Recklinghausen
Disease)

Autosomal
Dominant
Disorders

Autosomal Dominant. NF1 gene

defect (no GTPase protein) ------>
dysregulation of Ras tumor-

Multiple neurofibromas
(Caf au Lait spots) which
may become malignant,
Lisch nodules (pigmented

suppressor protein.

hamartomas of the iris).

Increased risk for

tumors:
pheochromocytoma,
Wilms tumor,
Rhabdomyosarcoma,
leukemias.
Tuberous Sclerosis

Autosomal
Dominant
Disorders

Autosomal Dominant.

Tubers (glial nodules),

seizures, mental
retardation. Associated
with adenoma sebaceum
(facial lesion), myocardial
rhabdomyomas, renal
angiomyolipomas.

Von Hippel-Lindau
Syndrome

Autosomal
Dominant
Disorders

Autosomal Dominant, short arm of

chromosome 3. Same genetic
region is associated with incidence
of renal cell carcinoma.

(1) Hemangioblastomas
of cerebellum, medulla,
or retina, (2) adenomas,
(3) cysts in visceral
organs. High risk for renal
cell carcinoma.

Congenital Fructose
Intolerance

Carbohydrate
Metabolism
Defect

Autosomal Recessive. Aldolase B

deficiency ------> buildup of
Fructose-1-Phosphate in tissues -----> inhibit glycogenolysis and
gluconeogenesis.

Severe hypoglycemia.
Treatment: Remove
fructose from diet.

Galactosemia

Carbohydrate
Metabolism
Defect

Autosomal Recessive. Inability to

convert galactose to glucose ------>
accumulation of galactose in many
tissues.

Failure to thrive, infantile

cataracts, mental
retardation. Progressive
hepatic failure, cirrhosis,
death.

(1) Classic form: Galactose-1phosphate Uridyltransferase

deficiency.
(2) Rarer form: Galactokinase
deficiency.

Galactokinasedeficiency: infantile
cataracts are prominent.
Treatment: in either

case, remove galactose

from diet.
Angelman Syndrome

Chromosomal Deletion of part of short arm of

chromosome 15, maternal copy.
An example of genomic
imprinting.

Mental retardation,
ataxic gait, seizures.
Inappropriate laughter.

Cri du Chat Syndrome

Chromosomal 5p-, deletion of the long arm of

chromosome 5.

"Cry of the cat." Severe

mental retardation,
microcephaly, cat-like
cry. Low birth-weight,
round-face,
hypertelorism (wide-set
eyes), low-set ears,
epicanthal folds.

Down Syndrome

(Trisomy 21)

Chromosomal Trisomy 21, with risk increasing

with maternal age. Familial form
(no age-associated risk) is
translocation t(21,x) in a minority
of cases.

Most common cause of

mental retardation. Will
see epicanthal folds,
simian crease, brushfield
spots in eyes. Associated
syndromes: congenital
heart disease, leukemia,
premature Alzheimer's
disease (same
morphological changes).

Edward's Syndrome

Chromosomal Trisomy 18

Mental retardation,
micrognathia, rockerbottom feet, congenital
heart disease, flexion
deformities of fingers.
Death by 1 year old.

Chromosomal Trisomy 13

Mental retardation,
microphthalmia, cleft lip
and palate, polydactyly,
rocker-bottom feet,
congenital heart disease.

(Trisomy 18)

Patau's Syndrome

(Trisomy 13)

Similar to and more

severe than Edward's
Syndrome. Death by 1
year old.
Prader-Willi
Syndrome

Chromosomal Deletion of part of short arm of

chromosome 15, paternal copy.
An example of genomic
imprinting.

Mental retardation, short

stature, hypotonia,
obesity and huge
appetite after infancy.
Small hands and feet,
hypogonadism.

Fragile-X Syndrome

Chromosomal Progressively longer tandem

repeats on the long arm of the XSex
chromosome. The longer the
chromosome number of repeats, the worse the
syndrome. Tandem repeats tend
to accumulate through
generations.

Second most common

cause of mental
retardation next to Down
Syndrome. Macroorchidism (enlarged
testes) in males.

Klinefelter's
Syndrome (XXY)

Chromosomal Non-disjunction of the sex

chromosome during Anaphase I of
Sex
meiosis ------> Trisomy (47,XXY)

Hypogonadism, tall
stature, gynecomastia.
Mild mental retardation.
Usually not diagnosed
until after puberty. One
Barr body seen on buccal
smear.

chromosome

Turner's Syndrome
(XO)

Chromosomal Non-disjunction of the sex

chromosome during Anaphase I of
Sex
meiosis ------> Monosomy (45,X)

chromosome

XXX Syndrome

Chromosomal Trisomy (47,XXX) and other

multiple X-chromosome

Streak gonads, primary

amenorrhea, webbed
neck, short stature,
coarctation of Aorta,
infantile genitalia. No
mental retardation. No
Barr bodies visible on
buccal smear.
Usually phenotypically
normal. May see

Ehlers-Danlos
Syndrome

abnormalities.
Sex
chromosome

menstrual abnormalities
or mild mental
retardation in some
cases.

Connective
Tissue
disease

Laxity of joints,
hyperextensibility of skin,
poor wound healing,
aneurysms.

Various defects in collagen

synthesis.

Type-I: Autosomal
dominant, mildest form.
Type-IV: autosomal
dominant. Defect in
reticular collagen (type-III)
Type-VI: autosomalrecessive.
Type-VII: Defect in
collagen type I
Type-IX: X-linked recessive

Osteogenesis
Imperfecta

Connective
tissue disease

Defects in Collagen Type I

formation.

Type-I:
Diaphragmatic
hernia. Common,
normal lifeexpectancy.
Type-IV:
Ecchymoses,
arterial rupture.
Dangerous due
to rupture
aneurysms.
Type-VI: Retinal
detachment,
corneal rupture

Multiple fractures after

birth, blue sclerae, thin
skin, progressive
deafness in some types
(due to abnormal middle
ear ossicles).

Type-I is most
common; Type-II is
most severe; Type-IV
is mildest form.
Cori's Disease

(Glycogen Storage
Disease Type III)

Glycogen
Storage
Disease

Autosomal Recessive. Debranching Stunted growth,

enzyme deficiency (can only break hepatomegaly,
down linear chains of glycogen,
hypoglycemia.
not at branch points) ------>
accumulate glycogen in liver,

heart, skeletal muscle.

McArdle's Disease

Glycogen
Storage
Disease

Autosomal Recessive. muscle

phosphorylase deficiency (cannot
utilize glycogen in skeletal muscle)
------> accumulation of glycogen in
skeletal muscle.

Muscle cramps, muscle

weakness, easy
fatigability.
Myoglobinuria with
strenuous exercise.

Glycogen
Storage
Disease

Autosomal Recessive. alpha-1,4Glucosidase deficiency (cannot

break down glycogen) ------>
accumulate glycogen in liver,
heart, skeletal muscle.

Cardiomegaly,
hepatomegaly, and
systemic findings, leading
to early death.

Glycogen
Storage
Disease

Autosomal Recessive. Glucose-6Phosphatase deficiency (cannot

break down glycogen) ------>
accumulate glycogen in liver and
kidney.

Severe fasting
hypoglycemia,
hepatomegaly from lots
of glycogen in liver.

Hemophilia A (Factor
VIII Deficiency)

Hemophilia

X-Linked Recessive. Factor VIII

deficiency

Hemorrhage, hematuria,
hemarthroses. Prolonged
PTT.

Hemophilia B (Factor
IX Deficiency)

Hemophilia

X-Linked Recessive. Factor IX

deficiency.

Milder than Hemophilia

A. Hemorrhage,
hematuria,
hemarthroses. Prolonged
PTT.

Von Willebrand
Disease

Hemophilia

Autosomal dominant and recessive

varieties. Von Willebrand Factor
deficiency ------> defect in initial
formation of platelet plugs, and
shorter half-life of Factor VIII in
blood.

Hemorrhage, similar to
hemophilia.

(Glycogen Storage
Disease Type V)

Pompe's Disease

(Glycogen Storage
Disease Type II)

Von Gierke's Disease

(Glycogen Storage
Disease Type I)

Type-I: Most mild.

Type-II: Intermediate.
Type-III: most severe,
with recessive
inheritance (complete
absence).

Ataxia-Telangiectasia

Immune
deficiency

Combined
Deficiency

Chdiak-Higashi
Syndrome

Immune
deficiency

Phagocyte
Deficiency

Chronic
Granulomatous
Disease

Immune
deficiency

Phagocyte
Deficiency

Chronic
Mucocutaneous
Candidiasis

Immune
deficiency

Autosomal Recessive. Unknown.

Numerous chromosomal breaks
and elevated AFP is found.
Symptomatic by age 2 years.

Cerebellar ataxia,
telangiectasia (enlarged
capillaries of face and
skin), B and T-Cell
deficiencies, IgA
deficiency.

Defect in polymerization of
microtubules in neutrophils ------>
failure in neutrophil migration and
phagocytosis. Also results in failure
in lysosomal function in
neutrophils.

Recurrent pyogenic
infections,
Staphylococcus,
Streptococcus.

X-Linked (usually) NADPH Oxidase

deficiency ------> no formation of
peroxides and superoxides ------>
no oxidative burst in phagocytes.

Failure of phagocytes
leads to susceptibility to
infections, especially
Staph Aureus and
Aspergillus spp. B and T
cells usually remain
normal.

T-Cell deficiency specific to

Candida.

Selective recurrent
Candida infections. Treat
with anti-fungal drugs.

A failure to produce gammaInterferon by T-Helper cells,

leading to an increase in TH2 cells
(no negative feedback) ------>
excessively high levels of IgE.

High histamine levels,

eosinophilia. Recurrent
cold (non-inflammatory)
Staphylococcal abscesses
(resulting from high
histamine), eczema.

IgA deficiency may be due to a

failure of heavy-chain gene
switching.

The most common

congenital immune
deficiency. There also
exists selective IgM and
IgG deficiencies, but they

T-Cell
Deficiency
Job's Syndrome

Immune
deficiency

Phagocyte
Deficiency

Selective IgA
Deficiency

Immune
deficiency

B-Cell
Deficiency

are less common.

Severe Combined
Immunodeficiency
(SCID)

Immune
deficiency

Combined
Deficiency

Thymic Aplasia
(DiGeorge Syndrome)

Immune
deficiency

T-Cell
Deficiency
Wiskott-Aldrich
Syndrome

Immune
deficiency

Combined
Deficiency

X-Linked
Agammaglobulinemia
(Bruton's Disease)

Immune
deficiency

B-Cell
Deficiency

Fabry's Disease

Lysosomal
Storage
Disease

Autosomal Recessive. Adenosine

Deaminase deficiency ------>
accumulation of dATP ------>
inhibit ribonucleotide reductase -----> decrease in DNA precursors

Severe deficiency in both

humoral and cellular
immunity, due to
impaired DNA synthesis.
Bone marrow transplant
may be helpful in
treatment.

Failure of development of the 3rd

and 4th Pharyngeal Pouches ------>
agenesis of the thymus and
parathyroid glands.

T-Cell deficiency from no

thymus. Hypocalcemic
tetany from primary
parathyroid deficiency.

Inability to mount initial IgM

response to the capsular
polysaccharides of pyogenic
bacteria.

In infancy, recurrent
pyogenic infections,
eczema,
thrombocytopenia,
excessive bleeding. IgG
levels remain normal.

X-Linked. Mutation in gene coding

for tyrosine kinase causes failure
of Pre-B cells to differentiate into
B-Cells.

Recurrent pyogenic
infections after 6 months
(when maternal
antibodies wear off). Can
treat with polyspecific
gamma globulin
preparations.

X-Linked Recessive. alphaGalactosidase A deficiency ------>

buildup of ceramide trihexoside in
body tissues.

Angiokeratomas (skin
lesions) over lower trunk,
fever, severe burning
pain in extremities,
cardiovascular and
cerebrovascular
involvement.

Gaucher's Disease

Lysosomal
Storage
Disease

Autosomal Recessive.
Glucocerebrosidase deficiency -----> accumulation of
glucocerebrosides (gangliosides,
sphingolipids) in lysosomes
throughout the body.

Type-I: Adult
form. 80% of
cases, retain
partial activity.
Hepatosplenome
galy, erosion of
femoral head,
mild anemia.
Normal lifespan
with treatment.
Type-II: Infantile
form. Severe CNS
involvement.
Death before age
1.
Type-III: Juvenile
form. Onset in
early childhood,
involving both
CNS and viscera,
but less severe
than Type II.

Niemann-Pick
Lipidosis

Lysosomal
Storage
Disease

Autosomal Recessive.
Sphingomyelinase deficiency -----> accumulation of sphingomyelin
in phagocytes.

Sphingomyelincontaining foamy
histiocytes in
reticuloendo-thelial
system and spleen.
Hepatosplenomegaly,
anemia, fever,
sometimes CNS
deterioration. Death by
age 3.

Hunter's Syndrome

Lysosomal
Storage
Disease

X-Linked Recessive. Liduronosulfate sulfatase

deficiency ------> buildup of
mucopolysaccharides (heparan
sulfate and dermatan sulfate)

Similar to but less severe

than Hurler Syndrome.
Hepatosplenomegaly,
micrognathia, retinal
degeneration, joint
stiffness, mild
retardation, cardiac
lesions.

Hurler's Syndrome

Lysosomal
Storage
Disease

Autosomal Recessive. alpha-Liduronidase deficiency ------>

accumulation of
mucopolysaccharides (heparan
sulfate, dermatan sulfate) in heart,
brain, liver, other organs.

Gargoyle-like facies,
progressive mental
deterioration, stubby
fingers, death by age 10.
Similar to Hunter's
Syndrome.

Tay-Sachs Disease

Lysosomal
Storage
Disease

Autosomal Recessive.
Hexosaminidase A deficiency -----> accumulation of GM2 ganglioside
in neurons.

CNS degeneration,
retardation, cherry redspot of macula, blindness
(amaurosis). Death
before age 4.

Albinism

Nitrogen
Metabolism
Defect

Autosomal Recessive. Tyrosinase

deficiency ------> inability to
synthesize melanin from tyrosine.
Can result from a lack of migration
of neural crest cells.

Depigmentation, pink
eyes, increased risk of
skin cancer.

Alkaptonuria

Nitrogen
Metabolism
Defect

Autosomal Recessive.
Homogentisic Oxidase deficiency
(inability to metabolize Phe and
Tyr) ------> buildup and urinary
excretion of homogentisic acid.

Urine turns dark and

black on standing,
ochronosis (dark
pigmentation of fibrous
and cartilage tissues),
ochronotic arthritis,
cardiac valve
involvement. Disease is
generally benign.

Homocystinuria

Nitrogen
Metabolism
Defect

Autosomal Recessive.
Cystathionine synthase defect
(either deficiency, or lost affinity
for pyridoxine, Vit. B6) ------>
buildup of homocystine and
deficiency of cysteine.

Mental retardation,
ectopia lentis, sparse
blond hair, genu valgum,
failure to thrive,
thromboembolic
episodes, fatty changes
of liver.

Treatment: Cysteine
supplementation, give
excess pyridoxine to

compensate for lost

pyridoxine affinity.
Lesch-Nyhan
Syndrome

Nitrogen
Metabolism
Defect

X-Linked Recessive. HypoxanthineGuanine

Phosphoribosyltransferase
(HGPRT) deficiency ------> no
salvage pathway for purine resynthesis ------> buildup of purine
metabolites

Hyperuricemia (gout),
mental retardation, selfmutilation (autistic
behavior),
choreoathetosis,
spasticity.

Maple Syrup Urine

Disease

Nitrogen
Metabolism
Defect

Autosomal Recessive. Deficiency of

branched chain keto-acid
decarboxylase ------> no
degradation of branched-chain
amino acids ------> buildup of
isoleucine, valine, leucine.

Severe CNS defects,

mental retardation,
death. Person smells like
maple syrup or burnt
sugar. Treatment:
remove the amino acids
from diet.

Phenylketonuria
(PKU)

Nitrogen
Metabolism
Defect

Autosomal Recessive.
Phenylalanine hydroxylase
deficiency (cannot break down Phe
nor make Tyr) ------> buildup of
phenylalanine, phenyl ketones
(phenylacetate, phenyl lactate,
phenylpyruvate) in body tissues
and CNS.

Symptoms result from

accumulation of
phenylalanine itself.
Mental deterioration,
hypopigmentation (blond
hair and blue eyes),
mousy body odor (from
phenylacetic acid in urine
and sweat).

Treatment: remove
phenylalanine from
diet.
Glucose-6-Phosphate
Dehydrogenase
(G6PD) Deficiency

RBC Disease

X-Linked Recessive. Glucose-6Phosphate Dehydrogenase (G6PD)

deficiency ------> no hexose
monophosphate shunt ------>
deficiency in NADPH ------>
inability to maintain glutathione in
reduced form, in RBC's

Susceptibility to oxidative
damage to RBC's, leading
to hemolytic anemia.
Can be elicited by drugs
(primaquine,
sulfonamides, aspirin),
fava beans (favism).
More prevalent in blacks.

Glycolytic enzyme
deficiencies

RBC Disease

Autosomal Recessive. Defect in

hexokinase, glucose-phosphate
isomerase, aldolase, triosephosphate isomerase, phosphateglycerate kinase, or enolase. Any
enzyme in glycolysis pathway.

Hemolytic anemia results

from any defect in the
glycolysis pathway, as
RBC's depend on
glycolysis for energy.

Autosomal Recessive
Polycystic Kidney
Disease (ARPKD)

Renal

Autosomal Recessive.

Numerous, diffuse
bilateral cysts formed in
the collecting ducts.
Associated with hepatic
fibrosis.

Bartter's Syndrome

Renal

Juxtaglomerular Cell Hyperplasia,

leading to primary hyperreninemia.

Elevated renin and

aldosterone,
hypokalemic alkalosis. No
hypertension.

Fanconi's Syndrome
Type I

Renal

Autosomal Recessive. Deficient

resorption in proximal tubules.

(1) Cystine deposition

throughout body,
cystinuria. (2) Defective
tubular resorption leads
to amino-aciduria,
polyuria, glycosuria,
chronic acidosis;
Hypophosphatemia and
Vitamin-D-resistant
Rickets.

Renal

Autosomal Recessive. Defective

resorption in proximal tubules.

Similar to Fanconi
Syndrome Type I, but
without the cystinosis.
Adult onset
osteomalacia, aminoaciduria, polyuria,
glycosuria.

Renal

Autosomal Dominant.

Numerous, disparate,
heterogenous renal cysts

(Child-onset
cystinosis)

Fanconi's Syndrome II

(Adult-onset)

Autosomal Dominant
Polycystic Kidney

Disease (ADPKD)

Autosomal
Dominant
Disorders

occurring bilaterally.
Onset in adult life.
Associated with liver
cysts.