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date: 08 December 2023

Inherited medical conditions

Concise Medical Dictionary

10. Inherited medical conditions

These are grouped according to their mode of inheritance.

Autosomal dominant

  • achondroplasia

  • acute intermittent porphyria

  • Alexander disease

  • antithrombin III deficiency

  • autosomal dominant polycystic kidney disease

  • Brugada syndrome

  • Charcot-Marie-Tooth disease

  • dystrophia myotonica (myotonic dystrophy)

  • Ehlers-Danlos syndrome

  • facioscapulohumeral muscular dystrophy

  • familial adenomatous polyposis

  • familial hypercholesterolaemia

  • fatal familial insomnia

  • fibrodysplasia ossificans progressiva

  • Gilbert’s syndrome (some forms are autosomal recessive)

  • hereditary elliptocytosis

  • hereditary multiple exostoses

  • hereditary spherocytosis

  • Huntington’s disease

  • hypertrophic obstructive cardiomyopathy

  • hypokalaemic periodic paralysis

  • ichthyosis vulgaris

  • idiopathic hypoparathyroidism

  • malignant hyperthermia

  • Marfan’s syndrome

  • maturity-onset diabetes of the young (MODY)

  • Mowat-Wilson syndrome

  • multiple endocrine neoplasia (MEN) types 1 and 2

  • neurofibromatosis

  • Noonan’s syndrome

  • Osler-Rendu-Weber syndrome

  • osteogenesis imperfecta (types I–VI)

  • osteopetrosis (mild form)

  • otosclerosis (some forms)

  • Peutz-Jeghers syndrome

  • Pfeiffer syndrome

  • protein C deficiency

  • retinitis pigmentosa (some mild forms)

  • retinoblastoma (some forms)

  • Treacher Collins syndrome

  • tuberous sclerosis

  • von Hippel-Lindau disease

  • von Willebrand’s disease

  • Waardenburg’s syndrome

Autosomal recessive

  • albinism

  • alcaptonuria

  • autosomal recessive polycystic kidney disease

  • Bartter syndrome

  • congenital adrenal hyperplasia

  • cystic fibrosis

  • Friedreich’s ataxia

  • galactosaemia

  • Gaucher’s disease

  • Gilbert’s syndrome (some forms are autosomal dominant)

  • glycogen storage disease

  • haemochromatosis

  • Hurler’s syndrome (MPS I)

  • osteogenesis imperfecta (type VII)

  • osteopetrosis (severe form)

  • phenylketonuria

  • retinitis pigmentosa (some mild forms)

  • sickle-cell disease

  • Tay-Sachs disease

  • thalassaemia

  • Werdnig-Hoffmann disease

  • Wilson’s disease

  • xeroderma pigmentosa

X-linked recessive

  • agammaglobulinaemia

  • androgen insensitivity syndrome

  • Becker muscular dystrophy

  • Duchenne’s muscular dystrophy

  • Fabry disease

  • glucose-6-phosphate dehydrogenase (G6PD) deficiency

  • haemophilia A

  • haemophilia B

  • Hunter’s syndrome

  • Lesch-Nyhan disease

  • Menkes (kinky-hair) disease

  • red-green colour blindness

  • retinitis pigmentosa (some severe forms)

  • Wiskott-Aldrich syndrome

  • X-linked ichythyosis

X-linked dominant

  • fragile-X syndrome

  • Rett’s syndrome

  • X-linked hypophosphataemia (vitamin D-resistant rickets)