Autosomal Dominant Diseases

Autosomal Dominant Diseases

Tip1 : Majority of CNSdisorders are Autosomal Dominant, the major exception being Friedrich's Ataxia(AR)
Tip 2 : All Neurocutaneous syndromes/ Phacomatoses are AD except Ataxia Telengectasia.


MODY 1(HNF 4 alpha)

Familial Melanoma
Basal Cell Nevus Syndrome
Darier's Disease

Factor V Leiden Mutation

Neurofibromatosis 1 and 2
Von- Hippel-Lindau Syndrome
Sturge-Weber Syndrome
Tuberous Sclerosis
MEN 1 & 2

FAP
HNPCC / Lynch Syndrome
Gilbert's Syndrome
Alagille Syndrome
Peutz-Jeghers Syndrome
Turcot's Syndrome
Gardner's Syndrome
Juvenile Polyposis Syndrome


Hypertrophic Cardiomyopathy
Long QT Syndrome
Marfan Syndrome

Primary Pulmonary Hypertension(BMPR2 gene)

Adult AD Polycystic Kidney Disease
Familial Hypocalciuric Hypercalcemia
Neurohypophyseal Diabetes Insipidus
Familial Hyperaldosteronism

Bartter's Syndrome Type 5 (1,2,3 and 4 are AR)

Liddle's Syndrome

Gordon's Syndrome / Pseudo-hypoaldosteronism Type II

(Note : Liddle's - HTN with hypokalemia, Gordon's-- HTN with hyperkalemia)

Malignant Hyperthermia / Central Core Disease
Hyperkalemic Periodic paralysis
Familial Parkinsonism Disease
Spinocerbellar Ataxias
Dystrophia Myotonica/ Myotonic Dystrophy
Noonan Syndrome

Best Disease
Retinoblastoma