Orphanet: Cystinurie

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Disease definition

A rare disorder of renal tubular amino acid transport characterized by recurrent formation of kidney cystine stones.


Classification level: Disorder
  • Synonym(s):
    • Cystinuria-lysinuria syndrome
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal recessive or Semi-dominant 
  • Age of onset: All ages
  • ICD-10: E72.0
  • OMIM: 220100
  • UMLS: C0010691  C0268646
  • MeSH: D003555
  • GARD: 6237
  • MedDRA: 10011778

Detailed information


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