Science / Autosomal Dominant Diseases

Random Science Quiz

Can you name the Autosomal Dominant Diseases ?

Quiz not verified by Sporcle

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

You're not logged in!

Compare scores with friends on all Sporcle quizzes.
Sign Up with Email
Log In

You Might Also Like...

Show Comments


Your Account Isn't Verified!

In order to create a playlist on Sporcle, you need to verify the email address you used during registration. Go to your Sporcle Settings to finish the process.