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7 Cards in this Set
- Front
- Back
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Familial atypical mole/melanoma
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p16
assoc w/ pancreatic adenoca |
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Ollier's disease
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Multiple enchondromas having a predominately unilateral distribution & ovarian sex cord -stromal tumors
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Maffucci's syndrome
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multiple enchondromas with soft tissue hemangiomas (spindle cell hemangioendothelioma)
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Tuberous Sclerosis
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AD
TSC1 (9q34) hamartin TSC2 (16p13) tuberin Skin angiofibromas, periungual fibromas, shagreen patches, hypopgimented macules, cardiac rhabdomyomas, LAM, SEGA, renal AML |
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MEN 1 Syndrome
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germline MEN1 gene mutations
11q13-menin parathyroid adenomas, pituitary adenomas (prolactinomas), and pancreatic islet cell tumors (gastrinoma or insulinoma) - (prolactinomas, |
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Hereditary hemochromatosis
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HFE gene
6p21.3 homozygous C282Y or compound heterozygotes C282Y & H63D Impaired association with b2microglobin decreased HFE expression, Impaired small intestinal absorption low hepcidin levels ferritin & transferrin (45%) high Hepatic iron index greater than 1.9 |
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Alokaptinuria
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AR
deficiency of homogentisate 1,2 dioxygenase 3q2 homogentisic acid is a metabolite of tyrosine & phenylalanine |
