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1st March 2024
Autosomal dominant
Approximately 1500 conditions have been identified to be inherited in an autosomal dominant fashion. As a rule of thumb, these conditions can be seen to be caused by “structural disorders”. Examples include:
| Autosomal dominant polycystic kidney disease (ADPCKD) | Hereditary spherocytosis |
| Tuberous sclerosis | Acute intermittent porphyria |
| Brugada syndrome | Hereditary haemorrhagic telangiectasia |
| Neurofibromatosis type 1 | Osteogenesis imperfecta |
| Neurofibromatosis type 2 | Achondroplasia |
| Ehler-Danlos syndrome | Huntington’s disease |
| Marfan’s syndrome | Myotonic dystrophy |
| Charcot-Marie-Tooth disease | Von-Hippel-Lindau disease |
| Facioscapulohumeral dystrophy | Hereditary sensory and motor neuropathy |
| Multiple endocrine neoplasia types 1 and 2 | Noonan syndrome |
| Familial hypercholesterolemia | von Willebrand’s disease |
| α1-antitrypsin deficiency* | Long QT syndrome |
| Peutz-Jeghers syndrome | Liddle’s syndrome |
*This is inherited in a codominant pattern whereby different mutations affecting the same gene can be expressed within a phenotype.
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