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Autosomal Dominant Diseases Stats
Can you name the Autosomal Dominant Diseases ?
By
babydoctor
15m
12 Questions
49 Plays
49 Plays
49 Plays
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Avg Score
51%
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Timer
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Plays Today
Pathology/Symptoms
Disease
% Correct
Cafe-
au-
lait spots, neural tumors, Lisch nodules.
Neurofibromatosis type 1
73.5%
Fibrillin gene mutation.
Marfan's syndrome
69.4%
Trinucleotide repeat disorder -
CAG. Depression, progressive dementia, choreiform movements, caudate atrophy.
Huntington's disease
67.3%
Dwarfism, short limbs, but head and trunk are normal size. Associated with advanced paternal age
Achondroplasia
59.2%
Always bilateral. Massive enlargement of kidneys due to multiple large cysts.
Autosomal Dominant Polycystic Kidney Disease
51%
Colon becomes covered with adenomatous polyps after puberty. Progresses to colon cancer unless resected. Mutation on chromosome 5 (APC gene)
Familial adenomatous polyposis
49%
90% of cases are due to mutation in PDK1. Associated with polycystic liver disease, berry aneurysms, mital valve prolapse.
Autosomal Dominant Polycystic Kidney Disease
46.9%
Spheroid erythrocytes due to spectrin or ankyrin defect.
Hereditary spherocytosis
44.9%
Cell-
signaling defect of fibroblast growth factor (FGF) receptor 3.
Achondroplasia
42.9%
Bilateral acoustic schwannomas. Juvenile cataracts.
Neurofibromatosis type 2
42.9%
'Ash leaf spots,' cortical and retinal hamartomas, seizures, mental retardation, cardiac rhabdomyomas.
Tuberous sclerosis
34.7%
Hemangioblastomas of retina/
cerebellum/
medulla. Associated with deletion of VHL gene (tumor suppressor) on chromosome 3.
von Hippel-Lindau disease
32.7%
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Last Updated: Feb 16, 2017
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