Details of Disease | DrugMAP

General Information of Disease (ID: DISGG7SU)

Disease Name	Hypouricemia, renal 1
Synonyms	hypouricemia, renal, 1; RHUC1; hypouricemia, renal, type 1; Dalmatian hypouricemia; renal hypouricemia; hypouricemia, renal
Disease Hierarchy	DISURZ91: Hereditary renal hypouricemia DISGG7SU: Hypouricemia, renal 1
Disease Identifiers	MONDO ID MONDO_0020728 MESH ID C537757 UMLS CUI C0473219 OMIM ID 220150 MedGen ID 141632

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC2A9	TTIF3GB	Strong	Biomarker	[1]
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This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC22A12	DT2WLAD	Strong	Autosomal recessive	[2]
SLC2A6	DTS4MKQ	Strong	Genetic Variation	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC22A12	OT72ZAWS	Strong	Autosomal recessive	[2]
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References

1	Non-urate transporter 1, non-glucose transporter member 9-related renal hypouricemia and acute renal failure accompanied by hyperbilirubinemia after anaerobic exercise: a case report.BMC Nephrol. 2019 Nov 26;20(1):433. doi: 10.1186/s12882-019-1618-1.
2	Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. J Am Soc Nephrol. 2004 Jan;15(1):164-73. doi: 10.1097/01.asn.0000105320.04395.d0.
3	URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia.Clin Chim Acta. 2018 Jun;481:83-89. doi: 10.1016/j.cca.2018.02.030. Epub 2018 Feb 24.