Inherited medical conditions
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)