vesicoureteral reflux 3
MONDO:0013356Mondo
Findings
No curated finding names vesicoureteral reflux 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene.
Definition from the Mondo Disease Ontology (MONDO:0013356), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Chronic constipationHPOHP:0012450
- 2 of 4 reported patients
- HydronephrosisHPOHP:0000126
- 2 of 4 reported patients
- Ureter duplexHPOHP:0012572
- 2 of 4 reported patients
- Grade III vesicoureteral refluxHPOHP:0033737
- 1 of 4 reported patients
- Grade IV vesicoureteral refluxHPOHP:0033741
- 1 of 4 reported patients
- HydroureterHPOHP:0000072
- 1 of 4 reported patients
- PolyhydramniosHPOHP:0001561
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SOX17HGNC:18122
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: vesicoureteral reflux 3
- Also called
- SOX17 vesicoureteral reflux (disease)vesicoureteral reflux (disease) caused by mutation in SOX17vesicoureteral reflux type 3