Autosomal dominant conditions
Autosomal recessive conditions are often thought to be 'metabolic' as opposed to autosomal dominant conditions being 'structural', notable exceptions:
- some 'metabolic' conditions such as Hunter's and G6PD are X-linked recessive whilst others such as hyperlipidaemia type II
Hyperlipidaemia type II is autosomal dominant
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Importance: 7
and hypokalaemic periodic paralysisHypokalaemic periodic paralysis is autosomal dominant
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Importance: 11
are autosomal dominant - some 'structural' conditions such as ataxia telangiectasia and Friedreich's ataxia are autosomal recessive
The following conditions are autosomal dominant:
- Achondroplasia
Achondroplasia is autosomal dominant
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Importance: 21
- Acute intermittent porphyria
Acute intermittent porphyria is autosomal dominant
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Importance: 24
- Adult polycystic disease
Adult polycystic disease is autosomal dominant
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Importance: 21
- Antithrombin III deficiency
Antithrombin III deficiency is autosomal dominant
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Importance: 10
- Ehlers-Danlos syndrome
Ehlers-Danlos syndrome is autosomal dominant
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Importance: 31
- Familial adenomatous polyposis
Familial adenomatous polyposis is autosomal dominant
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Importance: 19
- Hereditary haemorrhagic telangiectasia
Hereditary haemorrhagic telangiectasia is autosomal dominant
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Importance: 13
- Hereditary spherocytosis
Hereditary spherocytosis is autosomal dominant
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Importance: 32
- Hereditary non-polyposis colorectal carcinoma
Hereditary non-polyposis colorectal carcinoma is autosomal dominant
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Importance: 33
- Huntington's disease
Huntington's disease is autosomal dominant
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Importance: 14
- Hyperlipidaemia type II
Hyperlipidaemia type II is autosomal dominant
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Importance: 7
- Hypokalaemic periodic paralysis
Hypokalaemic periodic paralysis is autosomal dominant
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Importance: 11
- Malignant hyperthermia
Malignant hyperthermia is autosomal dominant
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Importance: 7
- Marfan's syndromes
Marfan's syndromes is autosomal dominant
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Importance: 3
- Myotonic dystrophy
Myotonic dystrophy is autosomal dominant
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Importance: 19
- Neurofibromatosis
Neurofibromatosis is autosomal dominant
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Importance: 38
- Noonan syndrome
Noonan syndrome is autosomal dominant
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Importance: 28
- Osteogenesis imperfecta
Osteogenesis imperfecta is autosomal dominant
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Importance: 23
- Peutz-Jeghers syndrome
Peutz-Jeghers syndrome - autosomal dominant
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Importance: 61
- Retinoblastoma
Retinoblastoma is autosomal dominant
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Importance: 35
- Romano-Ward syndrome
Romano-Ward syndrome is autosomal dominant
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Importance: 19
- tuberous sclerosis
Tuberous sclerosis is autosomal dominant
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Importance: 47
- Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome is autosomal dominant
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Importance: 21
- Von Willebrand's disease
Von Willebrand's disease is autosomal dominant
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Importance: 37
*
*type 3
von Willebrand's diseaseVon Willebrand's disease is autosomal dominant
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Importance: 37
(most severe form) is inherited as an autosomal recessive trait. Around 80% of patients have type 1 disease
+PassMedicine Notes
Autosomal recessive conditions are often thought to be 'metabolic' as opposed to autosomal dominant conditions being 'structural', notable exceptions:
- some 'metabolic' conditions such as Hunter's and G6PD are X-linked recessive whilst others such as hyperlipidaemia type II and hypokalaemic periodic paralysis are autosomal dominant
- some 'structural' conditions such as ataxia telangiectasia and Friedreich's ataxia are autosomal recessive
The following conditions are autosomal dominant:
- Achondroplasia
- Acute intermittent porphyria
- Adult polycystic disease
- Antithrombin III deficiency
- Ehlers-Danlos syndrome
- Familial adenomatous polyposis
- Hereditary haemorrhagic telangiectasia
- Hereditary spherocytosis
- Hereditary non-polyposis colorectal carcinoma
- Huntington's disease
- Hyperlipidaemia type II
- Hypokalaemic periodic paralysis
- Malignant hyperthermia
- Marfan's syndromes
- Myotonic dystrophy
- Neurofibromatosis
- Noonan syndrome
- Osteogenesis imperfecta
- Peutz-Jeghers syndrome
- Retinoblastoma
- Romano-Ward syndrome
- tuberous sclerosis
- Von Hippel-Lindau syndrome
- Von Willebrand's disease*
*type 3 von Willebrand's disease (most severe form) is inherited as an autosomal recessive trait. Around 80% of patients have type 1 disease
