Autosomal Dominant Diseases

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Can you name the Autosomal Dominant Diseases ?

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

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