Details of Disease

General Information of Disease (ID: DISUTG8K)

Disease Name Hypouricemia, renal, 2
Synonyms gout susceptibility 2; RHUC2; uric acid concentration, serum, quantitative trait locus 2; hypouricemia, renal, type 2; uric acid concentration, serum, QTL 2; hypouricemia, renal, 2
Disease Hierarchy
DISURZ91: Hereditary renal hypouricemia
DISUTG8K: Hypouricemia, renal, 2
Disease Identifiers
MONDO ID
MONDO_0012793
MESH ID
C567426
UMLS CUI
C2677549
OMIM ID
612076
MedGen ID
436974

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 Limited Genetic Variation [1]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC2A6 DTS4MKQ Strong Genetic Variation [1]
SLC2A9 DTGV8H0 Strong Autosomal recessive [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC2A9 OTENU71Z Strong Autosomal recessive [2]
------------------------------------------------------------------------------------

References

1 Idiopathic renal hypouricemia: A case report and literature review.Mol Med Rep. 2019 Dec;20(6):5118-5124. doi: 10.3892/mmr.2019.10726. Epub 2019 Oct 4.
2 Glut9 is a major regulator of urate homeostasis and its genetic inactivation induces hyperuricosuria and urate nephropathy. Proc Natl Acad Sci U S A. 2009 Sep 8;106(36):15501-6. doi: 10.1073/pnas.0904411106. Epub 2009 Aug 21.