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Cystinosis

Disease definition

A rare lysosomal 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.

ORPHA:213

Classification level: Disorder
  • 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

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.