Autosomal Dominant Diseases

Random Science Quiz

Can you name the Autosomal Dominant Diseases ?

Quiz not verified by Sporcle

 plays        
How to Play
Pathology/Symptoms Disease
90% of cases are due to mutation in PDK1. Associated with polycystic liver disease, berry aneurysms, mital valve prolapse.
Trinucleotide repeat disorder - CAG. Depression, progressive dementia, choreiform movements, caudate atrophy.
Always bilateral. Massive enlargement of kidneys due to multiple large cysts.
Colon becomes covered with adenomatous polyps after puberty. Progresses to colon cancer unless resected. Mutation on chromosome 5 (APC gene)
Dwarfism, short limbs, but head and trunk are normal size. Associated with advanced paternal age
Hemangioblastomas of retina/cerebellum/medulla. Associated with deletion of VHL gene (tumor suppressor) on chromosome 3.
'Ash leaf spots,' cortical and retinal hamartomas, seizures, mental retardation, cardiac rhabdomyomas.
Bilateral acoustic schwannomas. Juvenile cataracts.
Spheroid erythrocytes due to spectrin or ankyrin defect.
Cell-signaling defect of fibroblast growth factor (FGF) receptor 3.
Fibrillin gene mutation.
Cafe-au-lait spots, neural tumors, Lisch nodules.

Friend Scores


  Player Best Score Plays Last Played
You You haven't played this game yet.

You Might Also Like...

Extras