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Cystinuria

Disease definition

Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.

ORPHA:214

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

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