Characteristics of Autosomal dominant disorder
- Males and females are equally affected.
- Disorder transmitted by both sexes.
- Successive generations affected.
- Male to male transmission occurs
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