Autosomal Dominant Diseases

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Can you name the Autosomal Dominant Diseases ?

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

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