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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*
  • ICD-11: 5C60.1
  • OMIM: 219900
  • UMLS: C0268626
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2014) Italiano (2014) Nederlands (2014) Polski (2014, pdf)

Detailed information

General public

Guidelines

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.