Orphanet: Nephropathic infantile cystinosis

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Nephropathic infantile cystinosis

Disease definition

Nephropathic infantile cystinosis is the most common and severe form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.


Classification level: Subtype of disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: E72.0+  N16.3*
  • OMIM: 219800
  • UMLS: C3537440
  • MeSH: -
  • GARD: 9755
  • MedDRA: -

Detailed information

Article for general public


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