Science Quiz / Autosomal Dominant Diseases

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Can you name the Autosomal Dominant Diseases ?

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

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