autosomal dominant disorders
Last reviewed 01/2018
A list of some autosomal dominant disorders is presented below:
- achondroplasia
- antithrombin III deficiency
- Ehlers-Danlos syndrome
- Gilbert's disease
- hereditary haemorrhagic telangiectasia
- hereditary elliptosis, hereditary spherocytosis
- Huntington's disease
- idiopathic hypoparathyroidism
- intestinal polyposis
- marble bone disease
- Marfan's syndrome
- neurofibromatosis
- polycystic kidney disease (adult)
- protein C deficiency
- osteogenesis imperfecta
- Treacher Collins syndrome
- tuberous sclerosis
- Von Willebrand's disease
adult polycystic kidney disease
fascioscapulohumeral muscular dystrophy
familial hypocalciuric hypercalcaemia
familial medullary thyroid carcinoma
hereditary haemorrhagic telangiectasia
medullary adenocarcinoma of the thyroid
oculopharyngeal muscular dystrophy
osteogenesis imperfecta type I - mild disease
osteogenesis imperfecta type IV - moderately severe disease
von Willebrand's disease (congenital deficiency of von Willebrand's factor )