Autosomal recessive disorders
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
- Lipoprotein lipase deficiency
- Bartter's syndrome
- Cystinosis
- Cystinuria
- Bloom's syndrome
- Crigler-Najjar syndrome
- Congenital adrenal hyperplasia
- Factor XI deficiency
- Tay-Sachs disease
- 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
- Osteopetrosis
- 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
- Thalassaemia
- Vitamin D dependent rickets type I
- Werdnig-Hoffman disease
- Wilson's disease
- Xeroderma pigmentosum
- Zellweger syndrome
- Autosomal recessive inheritance
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