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Cystinosis

Disease definition

Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms).

ORPHA:213

  • Synonym(s):
    • Protein defect of cystin transport
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood, Adolescent, Adult
  • ICD-10: E72.0
  • OMIM: 219750  219800  219900
  • UMLS: C0010690
  • MeSH: D003554
  • GARD: 6236
  • MedDRA: 10011777

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