Autosomal Dominant Diseases

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Can you name the Autosomal Dominant Diseases ?

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

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