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Gen Dis St 1

Genetics Diseases Step 1

QuestionAnswer
Achondroplasia "FGF receptor 3; Dwarfism; short limbs
Acute intermittent porphyria/Porphyria Cutanea Tarda "Acute: Uroporphyrinogen I synthase
Alpha-1-Antitrypsin Deficiency Can cause Emphysema through excess elastase activity.
Angelman "Deletion of normally active Maternal allele; Mental retardation
Cystic Fibrosis "AR defect in CFTR
Ehler’s-Danlos Faulty collagen synthesis causing: 1. Hyperextensible skin 2. Tendency to bleed 3. hypermoile joints. 6 types. Inheritane and severity vary. AD or AR. Type III collagen.
Fabry’s Disease "Lysosomal storage disease
Familial Hypercholesterolemia "Elevated LDL due to defective or abset LDL receptor. Heterozygotes have chol = 300 mg/dL. Homo have chol = 700
"Fructosuria Fructose Intolerance"
"Galactosemia Galactokinase deficiency"
Gaucher’s Disease "Most common lysosomal storage disease. Hepatosplenomegaly
Hereditary Hemochromotosis "cirrhosis of liver
Hereditary Hemorrhagic telangiectasia "Inherited disorder of blood vessels. Findings: telangiectasia
Homocystenuria "homocysteine methyltransferase deficiency. Increased homocysteine in urine
Hypertrophic Cardiomyopathy
Marfan’s "Fibrillin-->connective tissue disorder affecting skeleton
MSUD "blocked degradation of branched amino acids (Ile
Multiple Endocrine Neoplasia "Several distinct syndromes (I
Neurofibromatosis 1 "café-aulait spots
Neurofibromatosis 2 "Bilateral acoustic neuroma
Osteogenesis Imperfecta "Brittle bone disease. Most common form is AD with abnormal type I collagen
PKU "Phylalanine hydroxylase. Phenylketones in urine. Mental retardation
Polycystic Kidney Disease "APKD. Always bilateral
Prader-willi "Deletion of normally active Paternal allele; Mental retardation
Tuberous Sclerosis "Facial lesions (adenoma sebaceum)
Turner’s "45 XO
Von-Hippel-Lindau Hemangioblastomas of retina/cerebellum/medulla; about half of affected individuals develop multiple bilateral renal cell carcinomas and other tumors. Associated with deletion of VHL gene (tumor suppressor) on ch 3 (3 words; Von Hippel-Lindau). Results in
Wilson’s "inadequate hepatic coppper exrection. Keyser-Fleischer rings
Created by: mbw369
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