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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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Tree Number(s): C16.320.565.595.377, C18.452.648.595.377

MeSH Unique ID: D003554

Entry Terms:

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

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