Inherited Conditions Flashcards
Hereditary spherocytosis
Autosomal dominant
Noonan syndrome
Autosomal dominant
Hereditary non-polyposis colorectal carcinoma
Autosomal dominant
Cystic fibrosis
Autosomal recessive
Myotonic dystrophy
Autosomal dominant
Hyperlipidaemia type 2
Autosomal dominant
Acute intermittent porphyria
Autosomal dominant
Glycogen storage disease
Autosomal recessive
Thalassaemias
Autosomal recessive
Gilbert’s syndrome
Autosomal recessive
Haemochromatosis
Autosomal recessive
Tuberose sclerosis
Autosomal dominant
Adult polycystic disease
Autosomal dominant
Von Hippel-Lindau syndrome
Autosomal dominant
Lipid storage disease: Tay-Sach’s, Gaucher, Niemann-Pick
Antitrhombin III deficiency
Autosomal dominant
Von Willebrand disease (Type 1)
Autosomal dominant
Around 80% of Von Willebrand Disease is type 1
Osteogenesis imperfecta
Autosomal dominant
Sickle cell anaemia
Autosomal recessive
Cystinuria
Autosomal recessive
Ataxia telangiectasia
Autosomal recessive
Familial adenomatous polyposis
Autosomal dominant
Achondroplasia
Autosomal dominant
Neurofibromatosis
Autosomal dominant
Hereditary haemorrhagic telangiectasia
Autosomal dominant
Huntington’s disease
Autosomal dominant
Familial Mediterranean Fever
Autosomal recessive
Homocystinuria
Autosomal recessive
Albinism
Autosomal recessive
Fanconi anaemia
Autosomal recessive
Congenital adrenal hyperplasia
Autosomal recessive
Peutz-Jeghers syndrome (Hereditary intestinal polyposis syndrome)
Autosomal dominant
Retinoblastoma
Autosomal dominant
Autosomal dominant conditions are mostly [1] whilst autosomal recessive conditions are mostly [2]
- Structural
- Metabolic
Ehlers-Danlos syndrome
Autosomal dominant
Friedreich’s ataxia
Autosomal recessive
Wilson’s disease
Autosomal recessive
Marfan’s syndrome
Autosomal dominant
