AD, AR, XR

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DiseaseAD, AR, XR
ADPKD- Always bilateral. Berry aneurysms
Familial Adenomatous Polyposis- Mutation on chromosome 5 (APC gene)
Tuberous sclerosis- Ash leaf spots. Seizures, mental retardation, angiomyolipomas, cardiac rhabdomyomas, increased incidence of astrocytomas.
Thalassemias
Multiple Endocrine Neoplasia- Associated with ret gene
Hemochromatosis
Phenylketonuria
NF1 - Cafe au lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas). On chromosome 17.
Cystic Fibrosis
Von-Hippel Lindau disease- Hemangioblastomas of retina, cerebellum, medulla. Associated with deletion of VHL gene on chromosome 3. Activation of angiogenic growth factors
Albinism
Ocular albinism
Hereditary spherocytosis - Spheroid erythrocytes due to spectrin or ankyrin defect. Splenectomy is curative.
Achondroplasia - Cell signaling defect of FGFR3
Familial Hypercholesterolemia- Type IIA- Elevated LDL due to defective or absent LDL receptor
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) - Inherited disorder of blood vessels
DiseaseAD, AR, XR
Huntington's Disease- Decreased GABA and ACh in the brain.
Glycogen storage diseases
Wiskott-Aldrich syndrome
Sickle cell anemia
Mucopolysaccharidoses (except Hunter's)
Hemophilia A and B
Lesch-Nyan syndrome
Fabry's disease
ARPKD
Bruton's agammaglobulinemia
NF2- Bilateral acoustic schwannoma. NF2 gene on chromosome 22
Duchenne's (and Becker's) muscular dystrophy
Hunter's Syndrome
Sphingolipidoses (Except Fabry's)
Marfan's Syndrome- Fibrillin gene mutation- Cystic medial necrosis of aorta.
G6PD deficiency

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Created May 24, 2012ReportNominate
Tags:disease