{"orpha":93110,"name":"Posterior urethral valve","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["PUV"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93110/","orphanet_url":"https://www.orpha.net/en/disease/detail/93110","names":{"fr":{"name":"Valve de l'urètre postérieur","synonyms":["PUV","VUP"],"definition":"Obstruction foetale congénitale rare du tractus urinaire inférieur (LUTO), caractérisée par la persistance anormale congénitale d'une membrane ou des replis obstructeurs dans la lumière de l'urètre postérieur, associée à une obstruction significative de la vessie masculine empêchant la vidange normale de celle-ci."},"de":{"name":"Urethralklappen, posteriore","synonyms":["PUV"],"definition":"Eine seltene kongenitale fetale Obstruktion der unteren Harnwege (LUTO), die durch eine abnorme kongenitale obstruktive Membran oder Klappen in der hinteren Harnröhre gekennzeichnet ist und mit einer signifikanten Obstruktion der männlichen Harnblase einhergeht, die die normale Entleerung der Harnblase einschränkt."},"es":{"name":"Válvula uretral posterior","synonyms":["PUV"],"definition":"Es una anomalía de obstrucción del tracto urinario inferior fetal (LUTO, por sus siglas en inglés), congénita y poco frecuente, caracterizada por la presencia de una membrana anómala, congénita obstructiva o valvas, localizada dentro de la uretra posterior y está asociada a una obstrucción significativa de la vejiga masculina limitando el vaciado normal de la vejiga."},"it":{"name":"Valvola uretrale posteriore","synonyms":["PUV"],"definition":"La valvola uretrale anteriore (PUV) è un'ostruzione congenita rara delle basse vie urinarie (LUTO) del feto, caratterizzata dalla presenza di una membrana di ostruzione o da lembi anomali congeniti, posizionati nell'uretra posteriore, che causano un'ostruzione significativa della vescica nel maschio, che ne limita lo svuotamento."},"nl":{"name":"Posterieure urethraklep","synonyms":["PUV"],"definition":"Een zeldzame congenitale obstructie van foetale lagere urinewegen (LUTO), gekarakteriseerd door een abnormaal congenitaal obstructief membraan of klepblad dat is gelokaliseerd in posterieure urethra, geassocieerd met significante obstructie van de mannelijke blaas die normale lediging van de blaas beperkt."},"pt":{"name":"Válvula uretral posterior"},"pl":{"name":"Zastawka cewki tylnej","synonyms":["PUV"]},"cs":{"name":"Chlopeň zadní uretry","synonyms":["PUV"]},"uk":{"name":"Задній уретральний клапан","synonyms":["PUV"],"definition":"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."},"zh":{"name":"后尿道瓣膜","synonyms":["PUV"],"definition":"后尿道瓣膜（PUV）是导致胎儿下尿路梗阻（LUTO）最常见的异常，其特征是位于后尿道内的异常先天性梗阻膜，限制了膀胱正常排空，与男性膀胱严重梗阻相关。"},"tr":{"name":"Posterior üretral kapak","synonyms":["PUV"]}},"xrefs":[{"source":"OMIM","code":"618612","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q64.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB31.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"105479263"},{"source":"MONDO","code":"0019640","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238506","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7439","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036369","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":435365,"name":"Fetal lower urinary tract obstruction","classifications":[147,156,185,188,233]}],"children":[],"genes":[{"symbol":"BNC2","name":"basonuclin zinc finger protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31051115[PMID]","hgnc":"30988","ensembl":"ENSG00000173068","omim":"608669","loci":["9p22.3-p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable","X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.125,"area":"Europe","status":"Validated","source":"[EXPERT]_19838598[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.4,"area":"Australia","status":"Validated","source":"25198372[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-10-06","source":"32809716[PMID]_21822988[PMID]_21822988[PMID]_30796705[PMID]_30948260[PMID]_28247065[PMID]_28612060[PMID]","terms":[{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010957","label":"Congenital posterior urethral valve","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0041047","label":"Bladder outlet obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000015","label":"Bladder diverticulum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010955","label":"Dilatation of the bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010956","label":"Fetal megacystis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010945","label":"Fetal pyelectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003419","label":"Low back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002009","label":"Potter facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012330","label":"Pyelonephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008661","label":"Urethral stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Very rare (<4-1%)","criteria":null}]}}