Single Gene Disorder Flashcards
(42 cards)
Familial spherocytosis
Autosomal dominant disorder
Von willebrant disease
Autosomal dominant disorder
Neurofibromatosis
Autosomal dominant disorder
Tuberous sclerosis
Autosomal dominant disorder
Myotonic dystrophy
Autosomal dominant disorder
Huntington disease
Autosomal dominant disorder
Polycystic kidney disease
Autosomal dominant disorder
Marfan syndrome
Autosomal dominant disorder
Osteogenesis imperfecta
Autosomal dominant disorder
Achondroplasia
Autosomal dominant disorder
Ehlers danlos syndrome
Autosomal dominant disorder and Autosomal recessive disorder
Familial hypercholesterolosis
Autosomal dominant disorder
Acute intermittent porphyria
Autosomal dominant disorder
Largest category of Mendelian disorder
Autosomal recessive disorder
Features of Autosomal recessive disorder (3)
- Parents unaffected, sibling may be affected
- 1 in 4 chance (25%risk of being affected)
- Results from “consanguineous” marriage - same blood/siblings
Sickle cell anemia
Autosomal recessive disorder
Thalassemia
Autosomal recessive disorder
Congenital adrenal hyperplasia
Autosomal recessive disorder
Neurogenic muscular atrophies
Autosomal recessive disorder
Friedreich ataxia
Autosomal recessive disorder
Spinal muscular atrophy
Autosomal recessive disorder
Alkaptonuria
Autosomal recessive disorder
Cystic fibrosis
Autosomal recessive disorder
Phenylketonuria
Autosomal recessive disorder
