{"orpha":48,"name":"Congenital bilateral absence of vas deferens","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["CBAVD","Congenital bilateral agenesis of vas deferens","Congenital bilateral aplasia of vas deferens"],"definition":"A rare non-syndromic urogenital tract malformation characterized by improper development of the vas deferens leading to male infertility.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-48/","orphanet_url":"https://www.orpha.net/en/disease/detail/48","names":{"fr":{"name":"Absence congénitale bilatérale des canaux déférents","synonyms":["ABCD","Agénésie congénitale bilatérale des canaux déférents","Aplasie congénitale bilatérale des canaux déférents"],"definition":"Malformation urogénitale non syndromique rare caractérisée par un développement incorrect du canal déférent entraînant la stérilité masculine."},"de":{"name":"Vas-deferens-Aplasie, bilaterale kongenitale","synonyms":["CBAVD","Kongenitale bilaterale Agenesie der Samenleiter"],"definition":"Eine seltene nicht-syndromale Fehlbildung des Urogenitaltrakts, die durch eine Fehlentwicklung des Samenleiters gekennzeichnet ist und zu männlicher Unfruchtbarkeit führt."},"es":{"name":"Ausencia congénita bilateral de los conductos deferentes","synonyms":["CBAVD","Agenesia congénita bilateral de los conductos deferentes","Aplasia congénita bilateral de los conductos deferentes"],"definition":"Es una malformación poco frecuente y no sindrómica del tracto urogenital caracterizada por un desarrollo inadecuado de los conductos deferentes que conduce a infertilidad masculina."},"it":{"name":"Assenza bilaterale congenita dei vasi deferenti","synonyms":["CBAVD","Agenesia bilaterale congenita dei vasi deferenti","Aplasia bilaterale congenita dei vasi deferenti"]},"nl":{"name":"Congenitale bilaterale afwezigheid van vas deferens","synonyms":["Congenitale bilaterale afwezigheid van zaadleider","Congenitale bilaterale agenesie van vas deferens","Congenitale bilaterale aplasie van vas deferens","CBAVD"],"definition":"Een zeldzame niet-syndromale malformatie van urogenitaal stelsel, gekenmerkt door foutieve ontwikkeling van vas deferens met tot mannelijke onvruchtbaarheid tot gevolg."},"pt":{"name":"Aplasia dos canais deferentes bilateral congénita","definition":"Malformação não sindromática rara do trato urogenital caracterizada por desenvolvimento inadequado dos canais deferentes, levando a infertilidade masculina."},"pl":{"name":"Wrodzony brak nasieniowodów","synonyms":["Wrodzona obustronna aplazja nasieniowodów","Wrodzona obustronna agenezja nasieniowodów"]},"cs":{"name":"Vrozená oboustranná absence vas deferens","synonyms":["Vrozená bilatelární ageneze vas deferens","Vrozená bilatelární aplázie vas deferens","CBAVD"]},"uk":{"name":"Вроджена двобічна відсутність сімявивідних протоків","synonyms":["Вроджена двобічна агенезія сімявивідних протоків","Вроджена двостороння аплазія сімявивідних проток"],"definition":"A rare non-syndromic urogenital tract malformation characterized by improper development of the vas deferens leading to male infertility."},"zh":{"name":"先天性双侧输精管缺如","synonyms":["先天性双侧输精管不发育"]},"tr":{"name":"Vas deferens doğumsal bilateral yokluğu","synonyms":["Vas deferens'in Doğumsal bilateral aplazisi","Vas deferens'in Doğumsal bilateral agenezisi"]}},"xrefs":[{"source":"OMIM","code":"277180","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300985","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q55.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB57","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018801","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535984","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0403814","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5461","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010670","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156622,"name":"Genetic urogenital tract malformation","classifications":[156]},{"orpha":98343,"name":"Male infertility due to obstructive azoospermia","classifications":[201]},{"orpha":399998,"name":"Male infertility due to obstructive azoospermia of genetic origin","classifications":[156]},{"orpha":182121,"name":"Non-syndromic urogenital tract malformation of male","classifications":[147,185,233]}],"children":[],"genes":[{"symbol":"ADGRG2","name":"adhesion G protein-coupled receptor G2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27476656[PMID]","hgnc":"4516","ensembl":"ENSG00000173698","omim":"300572","loci":["Xp22.13"]},{"symbol":"CFTR","name":"CF transmembrane conductance regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"7539342[PMID]_10651488[PMID]","hgnc":"1884","ensembl":"ENSG00000001626","omim":"602421","loci":["7q31.2"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":50.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-22","source":"24839497[PMID]_32025909[PMID]_30136289[PMID]_8697849[PMID]_9302172[PMID]_8916686[PMID]_5656994[PMID]_24286764[PMID]_7823702[PMID]_7739684[PMID]_7968122[PMID]","terms":[{"hpo":"HP:0012873","label":"Absent vas deferens","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011962","label":"Obstructive azoospermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0430121","label":"Seminal vesicle agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012210","label":"Abnormal renal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Occasional (29-5%)","criteria":null}]}}