Autosomal Dominant Diseases

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Can you name the Autosomal Dominant Diseases ?

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

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