autosomal recessive disorders

Last reviewed 01/2018

A list of some diseases that are associated with autosomal recessive inheritance is presented below:

  • oculocutaneous albinism
  • alkaptonuria
  • Bartter's syndrome
  • cystic fibrosis
  • endemic goitrous cretinism
  • familial amaurotic idiocy
  • galactosaemia
  • Gaucher's disease
  • glycogen storage disease
  • phenylketonuria
  • Wilson's disease
  • xeroderma pigmentosa

Related pages:

diagram of inheritance pattern of an autosomal recessive condition e.g. Sickle Cell Disease, Thalassaemia, Cystic Fibrosis

oculocutaneous albinism

5 alpha reductase deficiency

abetalipoproteinaemia

alkaptonuria

alpha -1 - antitrypsin deficiency

apo C-II deficiency

Bartter's syndrome

cystinosis

cystinuria

Bloom's syndrome

Crigler-Najjar syndrome

congenital adrenal hyperplasia

factor XI deficiency

familial amaurotic idiocy

cystic fibrosis

Dubin-Johnson syndrome

galactosaemia

Gaucher's disease (GD)

hereditary haemochromatosis (HH)

homocystinuria

infantile polycystic kidney disease

Laron type dwarfism

microcephaly (autosomal recessive)

ochronosis

osteogenesis imperfecta type II - perinatal lethal

Kugelberg-Welander disease

Hurler syndrome

polyglandular autoimmune syndrome I

limb girdle dystrophy

methaemoglobinaemia

Pendred's syndrome

Laurence-Moon-Biedl syndrome

marble bone disease

pseudoxanthoma elasticum

Prader-Willi syndrome

phenylketonuria

Refsum's disease

Smith-Lemli-Opitz syndrome

spinal muscular atrophy

Rotor's syndrome

severe combined immunodeficiency disease

sickle cell anaemia

Tay-Sachs disease

thalassaemia

vitamin D dependent rickets type I

Werdnig-Hoffman disease

Wilson's disease

xeroderma pigmentosum

Zellweger syndrome

autosomal recessive inheritance