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Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Cystinosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Cystinosis

Preferred term

Cystinosis  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Cystine Diatheses
  • Cystine Diathesis
  • Cystine Disease
  • Cystine Diseases
  • Cystine Storage Disease
  • Cystine Storage Diseases
  • Cystinoses
  • Cystinosin, Defect of
  • Defect of Cystinosin
  • Diatheses, Cystine
  • Diathesis, Cystine
  • Lysosomal Cystine Transport Protein, Defect Of
  • Storage Disease, Cystine
  • Storage Diseases, Cystine

Scope note

  • A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.

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URI

http://www.yso.fi/onto/mesh/D003554

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