USMLE Forums banner
1 - 12 of 12 Posts

741 Posts
Here's a list of autosomal dominant diseases:

  • Tuberous sclerosis
  • Marfan syndrome
  • Neurofibromatosis
  • Huntington's disease
  • Retinoblastoma
  • Waardenburg syndrome
  • Myotonic dystrophy
  • Familial hypercholestrolemia (LDL receptor defect Type IIa)
  • Adult polycystic kidney disease
  • von Hippel Lindau
  • Familial adenomatous polyposis and Peutz Jeghers Syndrome
  • Hereditory spherocytosis
  • Achondroplasia
  • Ehlor's Danlos (vascular type)
  • Acute intermittent porphyria
  • Hypertrophic Obstructive Cardiomyopathy (HOCM)
  • Von Willebrand Disease
  • Polydactyly
  • Osteogenesis Imperfecta (Except Type VII)
  • Hereditary hemorrhagic telengiactasia (Osler-weber-rendu syndrome)
  • Osteopetrosis Type II (Adult type)
  • Hypokalemic Periodic Paralysis

Of course the list can be considerable longer but these are the ones that are commonly tested in USMLE.

Please post your reply if you want to add to the list or if you have any comments on those already listed.

Check the List of X linked Recessive Disorders
and the list of X-Linked Dominant Diseases

3,316 Posts

hey,,it's really a very helpful list.thanks
but missings are:

Peutz jeghers
hypokalemic periodic paralysis (i saw it in kap-qbank)
ostreopetrosis in adult
n i think OGI type 1 & 4 both....

wht do u think guys? m i right?:rolleyes:
Thank you for adding to the list.
Yes, you are right.
OGI is already mentioned in the list and I added the others that you mentioned.

1 Posts
good way to remember AD/AR

Autosomal recessive conditions tend to be metabolic in nature - exceptions: inherited ataxias

Autosomal dominant conditions are more structural - exceptions: hyperlipidaemia type II, hypokalaemic periodic paralysis
1 - 12 of 12 Posts
This is an older thread, you may not receive a response, and could be reviving an old thread. Please consider creating a new thread.