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Autosomal Dominant

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
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.
Colon becomes covered with adenomatous polyps after puberty. Type of mutation? Gene ___, chromosome _____. FAP; autosomal dominant. APC gene, chromosome 5 due to a deletion.
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
Telengiectasia, recurrent epistaxis, skin discolorations, AVMs Osler-Weber-Rendu (Hereditary hemorrhagic telangiectasia. Autosomal dominant;
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
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.
Marfan's gene ____. Autosomal dominant/recessive etc. Fibrillin. Autosomal dominant
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
Von Recklinghousen, Osler-Weber-Rendu, Von-Hippel Lindau Von recklinhousen: NFI, Osler-Weber-Rendu: Hereditary hemorrhagic telangiectasia, VHL: renal cell carcinoma, hemangioblastoma, pheochromocytoma.
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.
NF2: symptoms, inheritance, gene and chromosome Bilateral acoustic neuroma, juvenile cataracts. NF2 (22).
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.
Hemangioblastoma, renal cell carcinoma, Von Hippel Lindau. chromosome 3 (constitutive expression of HIF and activation of angiogenic growth factors.
Created by: ddecampo



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