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Juvenile nephropathic cystinosis

Disease definition

A subtype of cystinosis characterized by an accumulation of cystine in different organs and tissues, particularly in the kidneys and eyes, and that clinically manifests between childhood and adolescence with a slowly progressive proximal tubulopathy and/or proteinuria, and photophobia. Extra-renal manifestations (e.g. hypothyroidism, insulin-dependent diabetes, hepatosplenomegaly, muscular and cerebral involvement) are less severe than in the infantile form of the disease.

ORPHA:411634

Classification level: Subtype of disorder
  • Synonym(s):
    • Intermediate cystinosis
    • Juvenile cystinosis
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent
  • ICD-10: E72.0+  N16.3*
  • OMIM: 219900
  • UMLS: C0268626
  • MeSH: -
  • GARD: -
  • MedDRA: -

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