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Genetic Diseases
Genetics of heritable diseases USMLE Step 1
61
Medical
Graduate
04/08/2013

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Cards

Term
Achondroplasia
Definition
Autosomal Dominant
FGF receptor 3 defect
Term
ADPKD
Definition
Autosomal Dominant
Mutation in PKD1
Chromosome 16
Term
Familial adenomatous polyposis
Definition
Autosomal Dominant
APC gene
Chromosome 5
Term
Familial hypercholesterolemia (hyperlipidemia type IIA)
Definition
Autosomal Dominant
Defective or absent LDL receptor
Term
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
Definition
Autosomal dominant
Term
Hereditary spherocytosis
Definition
Autosomal dominant
Term
Huntington's Disease
Definition
Autosomal dominant
Trinucleotide repeat (CAG)
Chromosome 4
Term
Marfan's syndrome
Definition
Autosomal dominant
Fibrillin-1 gene mutation
Term
Multiple endocrine neoplasias (MEN)
Definition
Autosomal dominant
Ret gene
Term
Neurofibromatosis type 1 (von Recklinghausen's disease)
Definition
Autosomal dominant
Chromosome 17
Term
Tuberous sclerosis
Definition
Autosomal dominant
Incomplete penetrance
Term
von Hippel-Lindau disease
Definition
Autosomal dominant
Deletion of VHL gene
Chromosome 3
Term
Albinism
Definition
Autosomal recessive
Deficiency in tyrosinase or tyrosine transporters
Term
ARPKD
Definition
Autosomal recessive
Term
Cystic fibrosis
Definition
Autosomal recessive
CFTR gene (commonly phenylalanine deletion)
Chromosome 7
Term
Hemochromatosis
Definition
Autosomal recessive
Term
Phenylketonuria
Definition
Autosomal recessive
Decreased phenylalanine hydroxylase or tetrahydrobiopterin cofactor
Tyrosine becomes essential
Term
Sickle cell anemia
Definition
Autosomal recessive
Term
Thalassemias
Definition
Autosomal recessive
Term
Bruton's agammaglobulinemia
Definition
X-linked recessive
Term
Wiskott-Aldrich syndrome
Definition
X-linked recessive
Term
Fabry's disease
Definition
X-linked recessive
Deficient alpha-galactosidase A
Accumulated ceramide trihexoside
Term
G6PD Deficiency
Definition
X-linked recessive
Term
Ocular albinism
Definition
X-linked recessive
Term
Lesch-Nyhan syndrome
Definition
X-linked recessive
Term
Duchenne's (and Becker's) muscular dystrophy
Definition
X-linked recessive
Deletion (or mutation) of dystrophin gene
Term
Hunter's syndrome
Definition
X-linked recessive
Term
Hemophilia A and B
Definition
X-linked recessive
Term
Ornithine transcarbamoylase deficiency
Definition
X-linked recessive
Most common urea cycle disorder
Orotic acid in the blood and urine
Term
Fragile X syndrome
Definition
X-linked
Trinucleotide repeat (CGG)
Affects methylation and expression of FMR1
Term
Friedrich's ataxia
Definition
Trinucleotide repeat (GAA)
Term
Myotonic dystrophy
Definition
Trinucleotide repeat (CTG)
Term
Down syndrome (trisomy 21)
Definition
Meiotic nondysjunction of homologous chromosomes

Decreased AFP, increased BHCG, decreased estriol, increased inhibin A
Term
Edwards' syndrome (trisomy 18)
Definition
Meiotic nondysjunction

Decreased AFP, decreased BHCG, decreased estriol, normal inhibin A
Term
Patau's syndrome (trisomy 13)
Definition
Meiotic nondysjunction

Decreased BHCG, decreased PAPP-A, increased nuchal translucency
Term
Cri-du-chat syndrome
Definition
Microdeletion of short arm of chromosome 5
Term
Williams syndrome
Definition
Microdeletion of long arm of chromosome 7
Term
DiGeorge syndrome
Definition
Microdeletion at chromosome 22q11
Term
Essential fructosuria
Definition
Autosomal recessive
Defect in fructokinase (benign, asymptomatic)
Term
Fructose intolerance
Definition
Autosomal recessive
Deficiency in aldolase B
Term
Galactokinase deficiency
Definition
Autosomal recessive
Deficiency of galactokinase
Term
Classic galactosemia
Definition
Autosomal recessive
Absence of galactose-1-phosphate uridyltransferase
Term
Alkaptonuria
Definition
Autosomal recessive
Deficiency of homogentisic acid oxidase (benign disease)
Dark connective tissue, debilitating arthralgias, pigmented sclera
Term
Homocystinuria
Definition
Autosomal recessive
Cystathione synthase deficiency OR decreased affinity of cystathione synthase for pyridoxal phosphate OR homocysteine methyltransferase deficiency
Term
Cystinuria
Definition
Autosomal recessive
Defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine in PCT
Term
Maple syrup urine disease
Definition
Autosomal recessive
Blocked degradation of BRANCHED amino acids (Ile, Leu, Val) due to decreased alpha-keoacid dehydrogenase
Term
Hartnup disease
Definition
Autosomal recessive
Defective neutral amino acid transporter on renal and intestinal epithelial cells
Leads to pellagra
Term
Von Gierke's disease (type I glycogen storage)
Definition
Autosomal recessive
Deficienct glucose-6-phosphatase
Term
Pompe's disease (Type II glycogen storage)
Definition
Autosomal recessive
Deficient lysosomal alpha-1,4-glucosidase
Term
Cori's disease (Type III glycogen storage)
Definition
Autosomal recessive
Deficient debranching enzyme (alpha-1,6-glucosidase)
Gluconeogenesis intact
Term
McArdle's disease (Type V glycogen storage)
Definition
Autosomal recessive
Deficient skeletal muscle glycogen phosphorylase
Term
Niemann-Pick disease
Definition
Autosomal recessive
Deficienct sphingomyelinase
Accumulated sphingomyelin
Hepatosplenomegaly
Term
Gaucher's disease
Definition
Autosomal recessive
Deficient glucocerebrosidase
Accumulated glucocerebroside
Term
Tay-Sach's disease
Definition
Autosomal recessive
Deficient hexosaminidase A
Accumulated GM2 ganglioside
NO hepatosplenomegaly
Term
Krabbe's disease
Definition
Autosomal recessive
Deficient galactocerebrosidase
Accumulated galactocerebroside
Term
Metachromatic leukodystrophy
Definition
Autosomal recessive
Deficient Arylsulfatase A
Accumulated cerebroside sulfate
Term
Hurler's syndrome
Definition
Autosomal recessive
Deficient alpha-L-iduronidase
Accumulated heparan sulfate, dermatan sulfate
Gargoylism, corneal clouding
Term
Hunter's syndrome
Definition
X-linked recessive
Deficient iduronate sulfatase
Accumulated heparan sulfate, dermatan sulfate
Hurler's+AGGRESSIVE BEHAVIOR
Term
I-hyperchylomicronemia
Definition
Autosomal recessive
Lipoprotein lipase deficiency or altered apolipoprotein C-II
NO ATHEROSCLEROSIS RISK
Term
IV-hypertriglyceridemia
Definition
Autosomal dominant
Hepatic overproduction of VLDL
Causes pancreatitis
Term
Abetalipoproteinemia
Definition
Autosomal recessive
Mutated microsomal triglyceride transfer protein (MTP)
Decreased chylomicron and VLDL synthesis and secretion
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