Inheritance Flashcards
Achondroplasia
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FGFR 3
Sx: dwarfism, short limbs, larger head, trunk size normal
ADPKD
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PKD1, chromo 16
Sx: polycystic liver disease, berry aneurysms, mitral valve prolapse
FAP
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APC on chromo 5
Sx: adenomas on colon progressing to colon cancer
Familial hypercholesterolemia
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elevated LDL due to defect or absent LDL receptor
Sx: atherosclerotic disease early in life, tendon xanthomas, MI
Hereditary hemorrhagic telangiectasia (osler-weber-rendu)
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Sx: telangiectasia, recurrent epistaxis, skin discolorations, AVM
Hereditary spherocytosis
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Spectrin or ankyrin defect
Sx: hemolytic anemia, increased MCHC
Huntington’s disease
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CAGn on chromo 4
Sx: depression, dementia, choreiform movements, caudate atrophy, decreased GABA and ACh
Marfan’s syndrome
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Fibrillin 1 gene mutation
Sx: long extremities, pectus excavatum, hypermobile joints, long fingers, dissecting aortic aneurysms, subluxation of lens
MEN
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MEN 2A and 2B associated with ret gene
NF1 (von recklinghausens)
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Chromo 17
Sx: cafe-au-lait spots, neural tumors, lisch nodules
NF2
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NF2 on chromo 22
Sx: bilateral acoustic schwannomas, juvenile cataracts
tuberous sclerosis
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Sx: adenoma sebaceum, ash leaf spots hypopigmented, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, renal angiomyolipomas, cardiac rhabomyomas
- increased chance of astrocytomas
Von Hippel Lindau disease
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deletion of VHL on chromosome 3, increased HIF
Sx: hemangioblastomas of retina/cerebellum/medulla, bilateral renal cell CA or tumors
Albinism
Auto Rec
ARPKD
auto rec
