posterior urethral valve
Findings
No curated finding names posterior urethral valve yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO) and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.
Definition from the Mondo Disease Ontology (MONDO:0019640), read 2026-09-29. CC BY 4.0.
Features
27 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 kidney diseaseHPOHP:0012622
- Very frequent (80% to 99% of cases)
- Congenital posterior urethral valveHPOHP:0010957
- Very frequent (80% to 99% of cases)
- Recurrent urinary tract infectionsHPOHP:0000010
- Very frequent (80% to 99% of cases)
- Bladder outlet obstructionHPOHP:0041047
- Frequent (30% to 79% of cases)
- HydronephrosisHPOHP:0000126
- Frequent (30% to 79% of cases)
- Vesicoureteral refluxHPOHP:0000076
- Frequent (30% to 79% of cases)
- Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the lungsHPOHP:0006703
- Occasional (5% to 29% of cases)
- Bladder diverticulumHPOHP:0000015
- Occasional (5% to 29% of cases)
- Dilatation of the bladderHPOHP:0010955
- Occasional (5% to 29% of cases)
- Fetal megacystisHPOHP:0010956
- Occasional (5% to 29% of cases)
- Fetal pyelectasisHPOHP:0010945
- Occasional (5% to 29% of cases)
Show the remaining 15
- HematuriaHPOHP:0000790
- Occasional (5% to 29% of cases)
- HypertensionHPOHP:0000822
- Occasional (5% to 29% of cases)
- Low back painHPOHP:0003419
- Occasional (5% to 29% of cases)
- Potter faciesHPOHP:0002009
- Occasional (5% to 29% of cases)
- ProteinuriaHPOHP:0000093
- Occasional (5% to 29% of cases)
- PyelonephritisHPOHP:0012330
- Occasional (5% to 29% of cases)
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.
- BNC2HGNC:30988
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: posterior urethral valve
- Also called
- congenital posterior urethral valvesPosterior Urethral ValvesPUV