Characteristics  of Autosomal dominant disorder
  • Males and females are equally affected.
  • Disorder transmitted by both sexes.
  • Successive generations affected.
  • Male to male transmission occurs
Pedigree demonstrating Autosomal dominant disorder
Examples of Autosomal dominant disorder
  • Achondroplasia
  • Acute intermittent porphyria
  • Adult polycystic kidney disease
  • Charcot Marie Tooth disease
  • Ehlor's Danlos (vascular type)
  • Facioscapulohumeral dystrophy
  • Familial adenomatous polyposis
  • Familial breast cancer (BRCA 1, 2)
  • Familial hypercholesterolaemia
  • Familial adenomatous polyposis
  • Familial hypercholestrolemia (LDL receptor defect Type IIa)
  • Hereditary hemorrhagic telengiactasia (Osler-weber-rendu syndrome)
  • Hereditory spherocytosis
  • Hypokalemic Periodic Paralysis
  • Hypertrophic Obstructive Cardiomyopathy (HOCM)
  • Marfan syndrome
  • Myotonic dystrophy
  • Noonan syndrome
  • Neurofibromatosis (Types 1 and 2)
  • Polydactyly
  • Osteogenesis Imperfecta (Except Type VII)
  • Osteopetrosis Type II (Adult type)
  • Spinocerebellar ataxia
  • Tuberous sclerosis
  • Retinoblastoma
  • von Hippel Lindau
  • Von Willebrand Disease
  • Waardenburg syndrome




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