AUTOSOMAL DOMINANT

HAT OF MaN PoWER-V

H
Huntingtons disease
Hereditary spherocitosis
Hereditary Hemorragic Telangectasia (Osler-Weber-Rendu Sd)
Hypertrophic Obstructive Cardiomyopathy
Hypokalemic Periodic Paralysis

A
Achondroplasia
Acute Intermitent Porphyria

T
Tuberous Sclerosis


O
Osteogenesis Imperfecta (except type VII)
Osteopetrosis Type II adult type

F
Familial hypercholesterolemia
Familial Adenomatous Polyposis (FAP) and Peutz Jeghers Sd


M
Marfan Sd
Myotonic Dystrophy

N
Neurofibromatosis type I


P
Polydactyly
Polycystic Kidney Disease (adults)

W
Waardenburg Sd.

E
Ehlers - Danlos Sd

R
Retinoblastoma

V
Von Hipel Lindau
Von Willebrand Disease
AUTOSOMAL RECESSIVE

Abetalipoproteinemia
Acute Fatty Liver of Pregnancy
Alkaptonuria
AcylCoA Dehydrogenase deficiency (MCAD)

Bernard Soulier Sd
Bloom Sd

Carpenter Sd
Chediak Higashi Sd
Chondrodystrophy
Congenital Adrenal Hyperplasia
Congenital Hepatic Fibrosis
Cystic Fibrosis

Dubin-Johnson Sd

Endocardial Fibroelastosis

Familial Mediterranean Fever
Fanconi Anemia
Friedreichs Ataxia

Gastroschisis
Gauchers disease
Ganzmans thromboasthenia

Hemochromatosis
Hartnup Disease

Leukocyte Adhesion Defect (LAD)

Niemann-Pick Disease

Phenylketonuria (PKU)
Polycystic Kidney Disease (children)

Rotor Sd.

SCID = ADA def. & rag-1, rag-2 def
Shwaman Diamond Sd
Situs inversus
Sicke Cell Disease and Trait

Tay-Sachs Disease
Thalasemia

Werner Disease
Wilsons Disease

Xeroderma Pigmentosa

X LINKED RECESSIVE

Alports Sd

Brutons Agammaglobulinemia
Beckers Muscular Dystrophy

Chronic Granulomatose Disease (CGD)
Congenital Aqueductus Stenosis
Color blindness

Duchenes muscular Dysstrophy

Ehlers Danlos (ED) Type 5

Fabrys Disease

Glucose 6-P Dehydrogenase (G6PD) Deficiency

Hemophilia A & B
Hunter Disease

Inherited Nephrogenic Diabetes Insipidus

Lesch-Nyhan Sd

Menkes Disease (ED type 9)

Ornithine Transcarbamoylase Deficiency

SCID = IL-receptor, Gamma chain deficiency

Wiskott Aldrich Sd


X LINKED DOMINANT

Alports Sd (most cases)

Charcot Marie Tooth

Focal Dermal Hypoplasia
Fragile X Syndrome

Hypophosphatemic rickets

Incontinentia pigmenti

Orofaciodigital Sd

RETTs Sd.








Y LINKED DISEASE


Color blindness
Hypertrichosis pinnae
Male infertility
Retinitis pigmentosa
XYY Syndrome





MITOCHONDRIAL DISEASES


Leber Hereditary Optic Neuropathy.
MELAS: Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like episode.
Myoclonic epilepsy with ragged red muscle fibers.