Autosomal Dominant
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| Cell-signaling defect that results in dwarfism, short limbs, with normal head an trunk. Associated with ___. Gene: ___ | Achondroplasia. Autosomal dominant; FGF3, associated with paternal age
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| Bilateral/unilateral enlargment of kidneys due to multiple large cysts. Presents with ___,___, ___, ___. mutation in ____ on chromosome ____. Associated with ____, ____, ____. Infantile form is ad/recessive? | APKD. Autosomal dominant; APKD1 (16). Sx: flank pain, hypertension, hematuria, renal failure. Associated with polycystic liver disease, berry aneurysms, mitral valve prolapse. infantile = recessive.
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| Colon becomes covered with adenomatous polyps after puberty. Type of mutation? Gene ___, chromosome _____. | FAP; autosomal dominant. APC gene, chromosome 5 due to a deletion.
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| Elevated LDL. Associated with ___, ____, ____. Type of defect? | Familial hypercholesterolemia(hyperlipidemia type IIA); Autosomal dominant. Defective LDL receptor. Associated with atherosclerotic disease early in life, tendon xanthomas (achilles), MI
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| Telengiectasia, recurrent epistaxis, skin discolorations, AVMs | Osler-Weber-Rendu (Hereditary hemorrhagic telangiectasia. Autosomal dominant;
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| autosomal dominant blood disorder with hemolytic anemia and abnormal RBC. Defect is due to ____. It causes ____ erythrocytes. Treatment is ____. | Hereditary Spherocytosis. Spectrin/ankrin defect (structural). Causes spheroid erythrocytes. Lab: low hemoglobin with increased MCHC. Treatment is splenectomay
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| Huntington disease is ____ (AD/AR etc). Caused by what type of mutation. Located on what chromosome? What NTs are abnormal? | Autosomal dominant (CAG) trinucleotide repeat. Located on chromosome 4.
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| Marfan's gene ____. Autosomal dominant/recessive etc. | Fibrillin. Autosomal dominant
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| MEN disorders are associated with what gene? AD/AR, etc? | ret. AD. I: Pituitary, parathyroid, pancreatic endocrine (Zollinger ELlison, insulinoma, VIPoma) (kidney stones, ulcers). II: parathyroid, pheochromocytoma, medullary thyroid cancers, IIB: thyroid, pheochromoctyoma, oral/intestinal ulcers, habitus
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| Von Recklinghousen, Osler-Weber-Rendu, Von-Hippel Lindau | Von recklinhousen: NFI, Osler-Weber-Rendu: Hereditary hemorrhagic telangiectasia, VHL: renal cell carcinoma, hemangioblastoma, pheochromocytoma.
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| mutation of a gene on chromosome 17. What are the symptoms? | Autosomal dominant. cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris harmartomas. Skeletal disorders including optic pathyway gliomas, pheochromocytoma and tumor susceptibility.
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| NF2: symptoms, inheritance, gene and chromosome | Bilateral acoustic neuroma, juvenile cataracts. NF2 (22).
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| Tuberous sclerosis | Autosomal dominant. Facial lesions (adenoma sebaceum), ash-leaf spots, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, renal angiomyolipomas, cardiac rhabdomyosms, increased incidence of astrocytoms.
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| Hemangioblastoma, renal cell carcinoma, | Von Hippel Lindau. chromosome 3 (constitutive expression of HIF and activation of angiogenic growth factors.
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