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vesicoureteral reflux 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

vesicoureteral reflux 3

MONDO:0013356

Also known as:SOX17 vesicoureteral reflux (disease)vesicoureteral reflux (disease) caused by mutation in SOX17vesicoureteral reflux type 3

Find Clinical TrialsTrials

Overview

Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene.

GeneticsAutosomal dominant · SOX17 (chr 8)

Clinical Trials1 registered · 1 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 common findings: Ureter duplex, Chronic constipation, and Hydronephrosis; and sometimes findings: Recurrent urinary tract infections, Polyhydramnios, Grade III vesicoureteral reflux, and Hydroureter and others.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	1	Recurrent urinary tract infections

Genetic Landscape

SOX17 function has not been fully characterized.

Vesicoureteral reflux 3 is associated with mutations in the SOX17 gene on chromosome 8.

Diagnosis

Genetic testing for SOX17 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for vesicoureteral reflux 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

206 publications have been identified in PubMed for vesicoureteral reflux 3. Kisho has analyzed 107 by research type. Research spans Epidemiology / Natural History (31%), Review / Meta-Analysis (21%), and Clinical Trial Publication (17%).

Research Type	Count	% of Total
Disease patterns and progression	33

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613674

GARD

Genetic and Rare Diseases Info Center

GARD:18420

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for SOX17, and what would the results mean for my family?
→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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vesicoureteral reflux 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

vesicoureteral reflux 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications