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APKD
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Familial adenomatous polyposis
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Genetic inheritance

USMLE

QuestionAnswerGene
APKD AD APKD1 (chromosome 16)
Familial adenomatous polyposis AD APC (chromosome 5)
Familial hypercholesterolemia (aka ___) AD (hyperlipidemia type IIa) LDL receptor
Hereditary hemorrhagic telangiectasia (aka ___) AD Oseler-Weber-Rendu)
Hereditary spherocytosis AD
Huntington's AD CAG repeat (chromosome 4)
Marfan's syndrome AD Fibrillin 1
MEN AD II, III = ret
Neurofibramatosis I (aka ___) AD von Recklinghousen's disease chromosome 17
Neurofibramatosis type 2 AD NF2 gene (chromosome 22)
Tuberous sclerosis AD
von Hippel Lindau AD VHL (Chromosome 3)
Albinsim (locus heterogeneity) AR
Infantile polcystic kidney disease AR
Cystic fibrosis AR CFTR gene (Phe 508), (Chromosome 7)
Glycogen storage disease AR
Hemochromatosis AR
mucopolysaccharidoses (except ___) AR, Hunter's
phenylketonuria AR
sickle cell anemias AR
Sphingolipidoses (except ___) AR (Fabry's)
Thalassemias AR
Bruton's agammaglobulinemia X
Fragile X X FMR1 gene (CGC) repeat
G6PD deficiency X
Ocular albinism X
Lesh-Nyhan syndrome X
Duchenne's/Becker's X Duchenne's = DMD deleted dystrophin
Hemophilia A/B X
Fabry's Disease X
Hunter's Syndrome X
Myotonic dystrophy trinucleotide repeat CTG
Friedrich's Ataxia trinucleotide repeat (GAA)
Hypophasphatemic rickets X-linked dominant (all female offspring of the affected father are diseased)
Leber's hereditary optic neuropathy Mitochondrial inheritance
Achondroplasia AD FGF 3
Created by: ddecampo
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