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31 Cards in this Set
- Front
- Back
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Adult Polycystic Kidney Disease
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Autosomal Dominant (Chr. 16) Berry aneurysms and MVP(click murmur)
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Familial Hypercholesterolemia
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Autosomal Dominant (Tendon Xanthomas)
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Marfan's Syndrome
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Autosomal Dominant (Cystic Medial Necrosis of Aorta)- aortic incompetence, dissecting aortic aneurysm (aortic insufficiency - late manifestation)
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Neruofibromatosis Type I
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Autosomal Dominant (Chr. 17 long arm) Associated with Cafe-Au-lait spots, pigmented iris hamartomas, Pheochromocytomas
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Neurofibromatosis Type II
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Autosomal Dominant (Chr. 22) Associated with bilateral acoustic neuromas
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Tuberous Sclerosis
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Autosomal Dominant (cardiac rhabdomyomas, ash leaf spots, renal cysts and renal angiomyolipomas) Incomplete penetrance and variable expressivity
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von-Hippel Lindau
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Autosomal Dominant (Chr. 3) - bilateral renal cell carcinoma and hemangioblastomas of retina, cerebellum, medulla
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Huntington's Disease
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Autosomal Dominant - (Chr. 4 CAG repeats)- caudate is damaged
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Familial Adenomatous Polyposis
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Autosomal Dominant - (Chr. 5- APC gene) - Colon cancer progression unless resected.
Turcot's Syndrome: FAP with possible brain involvement (glioblastoma) Gardner's Syndrome: FAP with osseous and soft tissue tumors - retinal hyperplasia |
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Hereditary Spherocytosis
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Autosomal Dominant - Increase MCHC
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Achondroplasia
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Autosomal Dominant - defective fibroblast growth factor receptor - short limbs normal trunk.
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Cystic Fibrosis
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Autosomal Recessive - defective chloride channel in sweat gland, increased sodium absorption in mucuous glands (remember pseudomonas)
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Albinism
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Autosomal Recessive - deficient tyrosinase (decreased melanin)
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Phenylketonuria
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Autosomal Recessive - deficient Phenylalanine Hydroxylase or Dihydropterin reductase (will have decreased tyrosine and dopamine - cofactor for both reactions)
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Thalassemias
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Autosomal Recessive
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Sickle Cell Anemia
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Autosomal Recessive - salmonella osteomyelitis
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glycogen storage diseases
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Autosomal Recessive
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mucopolysaccharidoses - except hunters
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Autosomal Recessive, hunters = sex-linked recessive
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spingolipidoses - except fabry's
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Autosomal Recessive - fabry's = sex-linked recessive
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Infantile polycystic kidney disease
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Autosomal Recessive - oligohydramnios and potter's facies
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hemochromatosis
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Autosomal Recessive
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Bruton's Agammaglobulinemia
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X-linked recessive - defect in tyrosine kinase gene associated with low levels of all Immunoglobulins - Decreased B-cells, Reccurrent Bacterial infection
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Wiskot Aldrich Syndrome
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X-linked recessive - inability to mount IgM response to capsular polysacchrides of bacteria - increased IgA, normal IgE, low IgM. Triad of pyogenic infections, thrombocytopenic purpura, Eczema
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Fragile X
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X-linked recessive - macrochordism - mental retardation and long face and large jaw
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G6PD
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X-linked recessive - heinz bodies and bite cells
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Ocular Albinism
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X-linked recessive
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Lesch Nyhan Syndrome
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X-linked recessive - HGPRTase deficiency - self mutilation and hyperuricemia (cant convert Hypoxanthine to inosinic acid (IMP) or guanine to GMP - build up of hypoxanthine, xanthine, and uric acid
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Duchenne's Muscular Dystrophy
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X-linked recessive - deletion of dystophin gene - fibrofatty replacement of muscle - calf pseudohypertrophy - increased CPK
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Hemophilia A and B
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X-linked recessive - only increased PTT
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Fabry's Disease
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X-linked recessive - build up of Cerebr Trihexoside, deficient in alpha galactosidase A
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Hunter's Syndrome
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X-linked recessive - build up of heparan sulfate and dermatan sulfate, deficient in Iduronate Sulfatase
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