Autosomal dominant disorders
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
Related pages
- Achondroplasia
- Acute intermittent porphyria
- Adult polycystic kidney disease
- Antithrombin III deficiency
- Benign congenital hypotonia
- Charcot-Marie-Tooth disease
- Cleft hand
- Cleidocranial dysostosis
- Hereditary multiple osteochondromas
- Dysplastic naevi syndrome
- Ehlers-Danlos syndrome (EDS)
- Fascioscapulohumeral muscular dystrophy
- Familial hypocalciuric hypercalcaemia
- Familial medullary thyroid carcinoma
- Familial triglyceridaemia
- Gilbert's disease
- Hayley-Hayley disease
- Hereditary pancreatitis
- Hereditary haemorrhagic telangiectasia
- Holt-Oram syndrome
- Hereditary elliptocytosis
- Hypertrophic cardiomyopathy
- Hereditary spherocytosis
- Huntington's disease
- Idiopathic hypoparathyroidism
- Medullary adenocarcinoma of the thyroid
- MEN-IIb
- Machado-Joseph disease
- Oculopharyngeal muscular dystrophy
- Familial polyposis coli
- Marfan's syndrome
- Myotonia congenita
- Polyepiphyseal dysplasia
- Osteopetrosis
- Neurofibromatosis
- Osteogenesis imperfecta type I - mild disease
- Osteogenesis imperfecta type IV - moderately severe disease
- Noonan's syndrome
- Osteogenesis imperfecta
- Retinoblastoma
- Peutz-Jegher's syndrome
- Protein C deficiency
- MEN-IIa
- Sturge-Weber syndrome
- Tuberous sclerosis
- Treacher-Collins syndrome
- Variegate porphyria
- Von Hippel-Lindau syndrome
- Von Willebrand's disease (congenital deficiency of von Willebrand's factor )
- MEN-I
- Autosomal dominant inheritance
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