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Hereditary renal hypouricemia

Disease definition

Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).

ORPHA:94088

  • Synonym(s): -
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: -
  • OMIM: 220150  242050  307830  612076
  • UMLS: -
  • MeSH: -
  • GARD: 9496
  • MedDRA: -

Additional information

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