Genetics/Feddock Main Points Flashcards

1
Q

Abetalipoproteinemia

A

FTT, Acanthocytosis, Steatorrhea, def in microsomal triglyc transfer protein

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2
Q

Gaucher’s Disease

A

AR, def in glucocerebrodiase

HSM, pancytopenia, aseptic necrosis of femur

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3
Q

sphingomyelinase

A

Niemann Pick

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4
Q

hexoaminidase A

A

Tay Sach

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5
Q

Krabbe Disease

A

galactocerebrodiase

globoid cells

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6
Q

Fabry

A

alpha-galactosidase

progressive renal failure

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7
Q

NF-1

A

chromosome 17
cafe au lait spots, lisch nodules
neurofibromas in skin
pheochromocytoms

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8
Q

VHL

A
chromsome 3
cagenous hemangiomas
bilateral renal cell carcinoma
hemangioblastoma in retina, brainstem, cerebellum
pheochromocytomas
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