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13 Cards in this Set
- Front
- Back
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Achondroplasia
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cell signaling defect of FGF3= dwarfism.
associated with advanced paternal age |
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ADPKD
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Always bilateral, massive enlargement of kidneys
flank pain, hematuria, HTN, progressive renal failure 85% of cases are due to mutation in PKD1 chrom16 16 letters in polycystic kidney "cysts in kidneys, liver, brain" (berry aneurysms in brain) |
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Familial Adenomatous Polyposis
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Colon adenocarcinoma 100% of the time
Mut APC gene chrom 5, covered with polyps after puberty 5 letters in polyp |
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Familial hypercholesterolemia
(hyperlipidemia Type IIa) |
defective or absent LDL receptor = HIGH LDL
hetero= 300mg/dL homo= 700+ mg/ dL severe athersclerotic disease, tendon xanthomas (Achilles) MI before age 20 |
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Hereditary Hemorrhagic Telangiectasia
(Osler Weber Rendu Syndrome) |
blood vessel disorder
telangiectasias, recurrent nosebleeds, skin discoloration, arteriovenous malformations |
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Hereditary spherocytosis
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spherical RBCs due to spectrin/ ankyrin defect
High MCHC, Hemolytic anemia Osmotic fragility test (spherical RBCs=more fragile) SPLENECTOMY is CURATIVE- howell jolly bodies |
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Huntingtons Disease
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repeated CAG repeats in chrom 4
dementia, chorea, depression, CAUDATE ATROPHY, DECREASED levels of ACH and GABA |
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Marfans syndrome
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Fibrillin-1 gene mutation
Tall w/ long extremities, pectux excavatum, hypermobile joints, long tapered fingers, sublaxation of lenses CYSTIC MEDIAL NECROSIS OF AORTA=Aortic Regurg and dissecting aortic aneurysms MITRAL VALVE PROLAPSE |
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MEN syndromes
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MEN1 3Ps: Pancreas, Parathyroid and Pituitary
Associated with RET oncogene- MEN2a: medullary thyroid cancer, pheochromocytoma MEN2b: medullary thyroid cancer, pheochromocytoma, schwannomas |
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NF-1
aka vonRecklinghausens |
cafe au lait spots, neurofibromas, Lisch nodules (pigmented iris hamartomas)
Chrom 17 |
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NF-2
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Bilateral acoustic schwannomas, juvenile cataracts
Chrom 22 |
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Tuberous Sclerosis
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Mutated hemartin, tuberin gene
Facial lesions (adenoma sebacum) HYPOPIGMENTED ASH LEAF SPOTS corneal and retinal hemartomas seizures, Mental retardation renal cysts & renal angiomyolipomas cardiac rhabdomyomas increased incidence of astrocytomas Incomplete penetrance, VARIABLE presentation |
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von Hippel Lindau
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Deletion of VHL tumor suppressor gene on chrom 3
Constitutive exp of HIF = angiogenic growth factors Hemangioblastomas of RETINA, CEREBELLUM, MEDULLA majority of pts- Multiple BILATERAL RenalCC & OTHER TUMORS |
