Autosomal dominant conditions- .37
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
• Tuberose 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
Autosomal recessive conditions- 11.56
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 hyperlipidemia type II and hypokalemic periodic paralysis are autosomal dominant
• some ‘structural’ conditions such as ataxia telangiectasia and Friedreich’s ataxia are autosomal recessive
The following conditions are autosomal recessive:
• Albinism
• Ataxia telangiectasia
• Congenital adrenal hyperplasia
• Cystic fibrosis
• Cystinuria
• Familial Mediterranean Fever
• Fanconi anaemia
• Friedreich’s ataxia
• Gilbert’s syndrome*
• Glycogen storage disease
• Haemochromatosis
• Homocystinuria
• Lipid storage disease: Tay-Sach’s, Gaucher, Niemann-Pick
• Mucopolysaccharidoses: Hurler’s
• PKU
• Sickle cell anaemia
• Thalassaemias
• Wilson’s disease
this is still a matter of debate and many textbooks will list Gilbert’s as autosomal dominant
X-linked recessive conditions-17.45
The following conditions are inherited in a X-linked recessive fashion:
Androgen insensitivity syndrome
Becker muscular dystrophy
Colour blindness
Duchenne muscular dystrophy
Fabry’s disease
G6PD deficiency
Haemophilia A,B
Hunter’s disease
Lesch-Nyhan syndrome
Nephrogenic diabetes insipidus
Ocular albinism
Retinitis pigmentosa
Wiskott-Aldrich syndrome
The following diseases have varying patterns of inheritance, with the majority being in an X-linked recessive fashion:
Chronic granulomatous disease (in > 70%)
X-linked dominant- 21.30
The following conditions are inherited in a X-linked dominant fashion*:
Alport’s syndrome (in around 85% of cases - 10-15% of cases are inherited in an autosomal recessive fashion with rare autosomal dominant variants existing)
Rett syndrome
Vitamin D resistant rickets
*pseudohypoparathyroidism was previously classified as an X-linked dominant condition but has now been shown to be inherited in an autosomal dominant fashion in the majority of cases