List of Autosomal Dominant Diseases - USMLE Forums
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USMLE Step 1 Bits & Pieces High yield short focused points, monographs, charts, illustrations, tables, and other stuff related to the USMLE Step 1 Exam.


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  #1  
Old 02-23-2010
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Genetics List of Autosomal Dominant Diseases

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

Last edited by Sabio; 08-19-2010 at 10:15 AM. Reason: Adding more
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  #2  
Old 04-07-2010
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Please add polydactyly and osteogenesis imperfecta
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Old 04-07-2010
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Quote:
Originally Posted by MLE-Love View Post
Please add polydactyly and osteogenesis imperfecta
Thanks for the contribution, diseases you mentioned added
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Old 06-06-2010
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plz add Hereditary hemorrhagic telengiactasia (Osler-weber-rendu syndrome)
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Old 06-06-2010
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Quote:
Originally Posted by doc12 View Post
plz add Hereditary hemorrhagic telengiactasia (Osler-weber-rendu syndrome)
Thank you, it was added
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  #6  
Old 06-06-2010
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Star Nemonic

thanks alot plz give some nemonic as it is really hard to memorize the long list.
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Old 06-06-2010
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here is a good mnemonic for it

HATS OF MAN POWER-V

you can fit all of these in this mnemonic
good luck
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  #8  
Old 08-18-2010
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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?
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  #9  
Old 08-19-2010
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Quote:
Originally Posted by samir8685 View Post
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?
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.
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Old 07-16-2012
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Default 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
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  #11  
Old 08-28-2012
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Default Thanks

its very useful.... thaks a lot bro
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  #12  
Old 05-30-2013
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Post great post!

Thanks for the Post!! helped a lot!
please add
 Klein-Waardenburg Syndrome
__________________
Vita Brevis. Astra Petas.
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