Science Quiz / Autosomal Dominant Diseases

Random Science Quiz

Can you name the Autosomal Dominant Diseases ?

Quiz not verified by Sporcle

Forced Order
Challenge
Share
Tweet
Embed
Score 0/12 Timer 15:00
Pathology/Symptoms Disease
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.
'Ash leaf spots,' cortical and retinal hamartomas, seizures, mental retardation, cardiac rhabdomyomas.
Fibrillin gene mutation.
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
Spheroid erythrocytes due to spectrin or ankyrin defect.
Trinucleotide repeat disorder - CAG. Depression, progressive dementia, choreiform movements, caudate atrophy.
Always bilateral. Massive enlargement of kidneys due to multiple large cysts.
Bilateral acoustic schwannomas. Juvenile cataracts.
Hemangioblastomas of retina/cerebellum/medulla. Associated with deletion of VHL gene (tumor suppressor) on chromosome 3.
Cell-signaling defect of fibroblast growth factor (FGF) receptor 3.

You're not logged in!

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

You Might Also Like...

Show Comments

Extras

Top Quizzes Today


Score Distribution

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.