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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.


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
  • ICD-11: 5C60.1
  • OMIM: 219800  219900
  • UMLS: C4316899
  • MeSH: D003554
  • GARD: 6236
  • MedDRA: 10011777

Detailed information

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Disease review articles

Genetic Testing

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