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hypouricemia, renal 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypouricemia, renal 1

MONDO:0020728

Also known as:Dalmatian hypouricemiaRHUC1hypouricemia, renal, 1

Find Clinical TrialsTrials

Overview

GeneticsAutosomal recessive · SLC22A12 (chr 11)

Clinical Trials2 registered · 2 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Uric acid nephrolithiasis, Urolithiasis, Elevated fractional excretion of urate, and Acute kidney injury and others; and common findings: Protein in the urine (proteinuria), Oliguria, and Elevated creatinine (kidney function marker) (elevated circulating creatinine concentration).

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	6	Uric acid nephrolithiasis, Protein in the urine (proteinuria), Acute kidney injury

Genetic Landscape

SLC22A12 function has not been fully characterized.

Hypouricemia, renal 1 is associated with mutations in the SLC22A12 gene on chromosome 11.

Diagnosis

Genetic testing for SLC22A12 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features, 3 common features.

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.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions and drug therapy. Pipeline includes 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.

12 publications have been identified in PubMed for hypouricemia, renal 1. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (25%), and Other (8%).

Research Type	Count	% of Total
Patient case studies	6	50%

Data assembled from 6 of 12 sources · Last updated Sep 17, 2026, 10:46 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:220150

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 2 active clinical trials a good fit for my situation?
→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 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

hypouricemia, renal 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications