Autosomal inheritance Flashcards
What is a general rule for remembering autosomal recessive vs autosomal dominant?
Autosomal recessive often thought to be “metabolic”
Autosomal dominant are “structural”
Achondroplasia?
Autosomal dominant
Acute intermittent porphyria
Autosomal dominant
Albinism
Autosomal recessive
Ataxic telangiectasia
Autosomal recessive
Congenital adrenal hypoplasia
Autosomal recessive
Adult polycystic disease
Autosomal dominant
Antithrombin III deficiency
Autosomal dominant
Ehlers Danlos
Autosomal dominant
Familial adenomatous polyposis
Autosomal dominant
Cystic fibrosis
Autosomal recessive
Cystinuria
Autosomal recessive
Familial Mediterranean fever
Autosomal recessive
Fanconi anaemia
Autosomal recessive
Hereditary haemorrhangic telangiectasia
Autosomal dominant
Hereditary spherocytosis
Autosomal dominant
Freidreich’s ataxia
Autosomal recessive
Hereditary non-polyposis colorectal carcinoma
Autosomal dominant
Huntington’s
Autosomal dominant
Hyperlipidaemia type II
Autosomal dominant
Glycogen storage disease
Autosomal recessive
Haemochromotosis
Autosomal recessive
Malignant hyperthermia
Autosomal dominant
Marfan’s
Autosomal dominant
Myotonic dystrophy
Autosomal dominant
Homocystinuria
Autosomal recessive
Lipid-storage disease
Autosomal recessive
Neurofibromatosis
Autosomal dominant
Noonan
Autosomal dominant
Osteogenesis imperfecta
Autosomal dominant
Peutz-Jeghers syndrome
Autosomal dominant
Mycopolysaccharoidoses
Autosomal recessive
PKU
Autosomal recessive
Sickle cell anaemia
Autosomal recessive
Retinoblastoma
Autosomal dominant
Romano-Ward syndrome
Autosomal dominant
Tuberous sclerosis
Autosomal dominant
Thalassaemias
Autosomal recessive
Wilson’s disease
Autosomal recessive
Von Hippel-Lindau syndrome
Autosomal dominant
von Willebrand’s 1 and 2
Autosomal dominant
von Willebrand’s 3
Autosomal recessive
