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hypouricemia, renal, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypouricemia, renal, 2

MONDO:0012793

Also known as:hypouricemia, renal, type 2uric acid concentration, serum, QTL 2RHUC2

Overview

GeneticsAutosomal recessive, Autosomal dominant · SLC2A9 (chr 4)

Clinical Presentation

Features include sometimes findings: Nephrolithiasis. 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	1	Nephrolithiasis

Explore clinical features

Genetic Landscape

SLC2A9 function has not been fully characterized.

Hypouricemia, renal, 2 is associated with mutations in the SLC2A9 gene on chromosome 4.

Diagnosis

Genetic testing for SLC2A9 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypouricemia, renal, 2 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hypouricemia, renal, 2.

62 publications have been identified in PubMed for hypouricemia, renal, 2. Research spans Epidemiology / Natural History (50%), Basic Science / Preclinical (19%), and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Disease patterns and progression	31	50%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612076

GARD

Genetic and Rare Diseases Info Center

GARD:15541

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hypouricemia, renal, 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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