ORPHA:93110

Posterior urethral valve

Synonyms: PUV

Type: Morphological anomaly
Group: Disorder
Inheritance: Autosomal recessive, Not applicable, X-linked recessive
Age of onset: All ages
Status: active

A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly characterized by an abnormal congenital obstructing membrane or leaflets that are located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Posterior urethral valve	PUV
fr	Valve de l'urètre postérieur	PUV · VUP
de	Urethralklappen, posteriore	= en
es	Válvula uretral posterior	= en
it	Valvola uretrale posteriore	= en
nl	Posterieure urethraklep	= en
pt	Válvula uretral posterior
pl	Zastawka cewki tylnej	= en
cs	Chlopeň zadní uretry	= en
uk	Задній уретральний клапан	= en
zh	后尿道瓣膜	= en
tr	Posterior üretral kapak	= en

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618612	E		validated
ICD-10	Q64.2	NTBT	attributed	validated
ICD-11	LB31.2	NTBT	index	validated
MONDO	0019640	E		validated
UMLS	C0238506	E		validated
GARD	7439	E		validated
MedDRA	10036369	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:435365Fetal lower urinary tract obstruction
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare renal diseases; rare transplant-related disorders

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
BNC2	Disease-causing germline mutation(s) in	Assessed	HGNC:30988	ENSG00000173068	608669	9p22.3-p22.2	basonuclin zinc finger protein 2	31051115[PMID]

Prevalence and incidence

3 records

Type	Class	Value	Area	Qualification	Validation	Source
Prevalence at birth	1-9 / 100 000	4.125 / 100 000	Europe	Value and class	Validated	[EXPERT]_19838598[PMID]
Prevalence at birth	1-9 / 100 000	6.4 / 100 000	Australia	Value and class	Validated	25198372[PMID]
Point prevalence	1-9 / 100 000	2 / 100 000	Europe	Value and class	Validated	[EXPERT]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

27 annotations · validated 2025-10-06

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0012622	Chronic kidney disease
HP:0010957	Congenital posterior urethral valve
HP:0000010	Recurrent urinary tract infections
Frequent (79-30%)
HP:0041047	Bladder outlet obstruction
HP:0000126	Hydronephrosis
HP:0000076	Vesicoureteral reflux
Occasional (29-5%)
HP:0002027	Abdominal pain
HP:0006703	Aplasia/Hypoplasia of the lungs
HP:0000015	Bladder diverticulum
HP:0010955	Dilatation of the bladder
HP:0010956	Fetal megacystis
HP:0010945	Fetal pyelectasis
HP:0000790	Hematuria
HP:0000822	Hypertension
HP:0003419	Low back pain
HP:0002009	Potter facies
HP:0000093	Proteinuria
HP:0012330	Pyelonephritis
HP:0000110	Renal dysplasia
HP:0000083	Renal insufficiency
HP:0003774	Stage 5 chronic kidney disease
HP:0000020	Urinary incontinence
Very rare (<4-1%)
HP:0100518	Dysuria
HP:0001254	Lethargy
HP:0001562	Oligohydramnios
HP:0008661	Urethral stenosis
HP:0000016	Urinary retention

Run the differential on the 3 obligate / very frequent terms

Annotation source: 32809716[PMID]_21822988[PMID]_21822988[PMID]_30796705[PMID]_30948260[PMID]_28247065[PMID]_28612060[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/93110
This record as JSON: /data/d/93110.json