[rasheed]

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

 

[khanar]

Please add polydactyly and osteogenesis imperfecta

 

[rasheed]

Please add polydactyly and osteogenesis imperfecta

Thanks for the contribution, diseases you mentioned added

 

[doc12]

plz add Hereditary hemorrhagic telengiactasia (Osler-weber-rendu syndrome)

 

[rasheed]

plz add Hereditary hemorrhagic telengiactasia (Osler-weber-rendu syndrome)

Thank you, it was added

 

[dr pinky]

Nemonic

thanks alot plz give some nemonic as it is really hard to memorize the long list.

 

[doc12]

here is a good mnemonic for it

HATS OF MAN POWER-V

you can fit all of these in this mnemonic
good luck

 

[samir8685]

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?

 

[Sabio]

Thanks

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.

 

[paul_hxxx]

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

 

[parag03]

Thanks

its very useful.... thaks a lot bro

 

[alm2md]

great post!

Thanks for the Post!! helped a lot!
please add
 Klein-Waardenburg Syndrome