Details of Disease

General Information of Disease (ID: DISURZ91)

• Disease Name: Hereditary renal hypouricemia
• Synonyms: Dalmatian hypouricemia; renal hypouricemia; hypouricemia, renal
• 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).
• Disease Hierarchy:
  DISZ75RJ: Inherited renal tubular disease
  DISURZ91: Hereditary renal hypouricemia
• Disease Identifiers:
  MONDO ID: MONDO_0009071
  UMLS CUI: C4551590
  MedGen ID: 1643078
  Orphanet ID: 94088
  SNOMED CT ID: 236478009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC22A12	TTA592U	Limited	Genetic Variation	[1]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC22A12	DT2WLAD	Supportive	Autosomal recessive	[2]
SLC2A9	DTGV8H0	Supportive	Autosomal recessive	[3]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC22A12	OT72ZAWS	Supportive	Autosomal recessive	[2]
SLC2A9	OTENU71Z	Supportive	Autosomal recessive	[3]

References

• [1] Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia.J Clin Endocrinol Metab. 2005 Apr;90(4):2169-74. doi: 10.1210/jc.2004-1111. Epub 2005 Jan 5.
• [2] URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews. Nephrol Dial Transplant. 2011 Jul;26(7):2175-81. doi: 10.1093/ndt/gfq722. Epub 2010 Dec 9.
• [3] Homozygous SLC2A9 mutations cause severe renal hypouricemia. J Am Soc Nephrol. 2010 Jan;21(1):64-72. doi: 10.1681/ASN.2009040406. Epub 2009 Nov 19.