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40 Cards in this Set
- Front
- Back
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Bruton's agammaglobulinemia
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X-linked Recessive
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Wiskott Aldrich
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X-linked Recessive
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Fabry's Disease
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X-linked Recessive
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G6PD
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X-linked Recessive
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Duchenne's and Becker's muscular dystrophy
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X-linked Recessive
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Hunter's Syndrome
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X-linked Recessive
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Hemophilia A and B
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X-linked Recessive
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Fragile X
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X-linked Recessive. (CGG)n
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Albinism
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Autosomal Recessive
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ARPKD
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Autosomal Recessive
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Cystic Fibrosis
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Autosomal Recessive
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Glycogen storage diseases
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Autosomal Recessive
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Hemochromatosis
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Autosomal Recessive
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Mucopolysaccharidoses (except Hunter's)
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Autosomal Recessive
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Phenylketonuria
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Autosomal Recessive
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Sickle Cell anemias
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Autosomal Recessive
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sphingolipidoses (except Fabry's)
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Autosomal Recessive
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Thalassemias
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Autosomal Recessive
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Hypophosphatemic Rickets
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X-linked dominant
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Leber's hereditary optic neuropathy
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Mitochondrial
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Mitochondrial myopathies
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Mitochondrial
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Achondroplasia
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Autosomal Dominant. FGF receptor 3.
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ADPKD
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Autosomal Dominant
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Familial adenomatous polyposis
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Autosomal Dominant. APC gene chr 5.
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Familial hypercholesterolemia
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Autosomal Dominant. Aa: cholesterol ~300, AA: cholesterol ~700 and MI before age 20. Chr 19 LDL receptor.
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Hereditary hemorrhagic telangiectasia
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Autosomal Dominant
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Hereditary spherocytosis
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Autosomal Dominant. Spectrin or ankyrin. increased MCHC.
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Huntington's Disease
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Autosomal Dominant. (CAG)n
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Marfan's Syndrome
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Autosomal Dominant
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MEN
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Autosomal Dominant. MEN 2a and 2b = ret gene.
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Neurofibromatosis type 1
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Autosomal Dominant. cafe au lait spots, pigmented iris hamartomas. Chr 17.
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Neurofibromatosis type 2
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Autosomal Dominant. Bilateral acoustic neuromas, cataracts. NF2 gene on chr 22.
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Tuberous sclerosis
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Autosomal Dominant. ash leaf spots, cardiac rhabdomyomas, astrocytomas, cortical retinal hamartomas, seizures, MR.
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von Hippel-Lindau disease
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Autosomal Dominant. RCC bilateral, pheochromocytomas, VHL gene (tumor supressor) chr 3.
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Myotonic Dystrophy
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Autosomal Dominant. (CTG)n
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Friedreich's ataxia
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Autosomal Recessive. (GAA)n.
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CAG
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Huntington's disease
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CTG
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MyoTonic dystrophy
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CGG
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FraGile X syndrome
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GAA
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Friedreich's ataxia
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