AD, AR, XR

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

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