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Dent disease

Disease definition

Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.

ORPHA:1652

  • Synonym(s):
    • Dent syndrome
    • Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis
    • Renal Fanconi syndrome with nephrocalcinosis and renal stones
    • X-linked recessive hypercalciuric hypophosphatemic rickets
    • X-linked recessive nephrolithiasis
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: N25.8
  • OMIM: 300009  300554  300555  308990  310468
  • UMLS: C0878681  C1839874
  • MeSH: C545036  D057973
  • GARD: -
  • MedDRA: 10069199

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