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

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Cystinosis  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Etiquetas alternativas

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

En otras lenguas

  • Cystinose

    francés

  • Déficit en transporteur de la cystine

URI

http://data.loterre.fr/ark:/67375/JVR-LZ700TNB-K

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