{"orpha":404466,"name":"Female infertility due to zona pellucida defect","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-404466/","orphanet_url":"https://www.orpha.net/en/disease/detail/404466","names":{"fr":{"name":"Infertilité féminine par défaut de la zone pellucide","definition":"Infertilité féminine de cause rare et génétique, caractérisée par des ovocytes anormaux dépourvus de zone pellucide. Les femmes atteintes ne peuvent pas concevoir, malgré des cycles menstruels normaux et des taux normaux d'hormones sexuelles. Il n'y a pas d'obstruction des trompes de Fallope, ou d'anomalie au niveau de l'utérus et de ses annexes."},"de":{"name":"Weibliche Infertilität durch Zona pellucida-Defekt"},"es":{"name":"Infertilidad femenina por un defecto de la zona pelúcida","definition":"La infertilidad femenina por defecto de la zona pelúcida, es un trastorno de infertilidad femenino, genético y poco frecuente, caracterizado por la presencia de ovocitos anómalos que carecen de zona pelúcida. Las afectadas no pueden concebir a pesar de tener ciclos menstruales y niveles de hormonas sexuales normales, y carecer de obstrucciones en las trompas de Falopio así como de defectos del útero o anexos."},"it":{"name":"Infertilità femminile da difetto della zona pellucida","definition":"L'infertilità femminile da difetto della zona pellucida è una malattia genetica rara, caratterizzata da anomalie degli ovociti, che sono privi della zona pellucida. Le pazienti non sono in grado di concepire anche se hanno cicli mestruali e i livelli degli ormoni sessuali sono normali, in assenza di ostruzione delle tube di Falloppio o di difetti dell'utero e degli annessi."},"nl":{"name":"Vrouwelijke infertiliteit door defect van zona pellucida","definition":"Vrouwelijke onvruchtbaarheid door zona pellucida-defect is een zeldzame, genetische, vrouwelijke vruchtbaarheidsstoornis die gekarakteriseerd wordt door de aanwezigheid van of abnormale oöcyten waarbij de zona pellucida ontbreekt. Getroffen individuen kunnen niet zwanger worden, ondanks normale menstruatiecycli en normale gehaltes van geslachtshormonen, alsook geen obstructies in de eileiders of defecten aan de uterus of adnexen."},"pt":{"name":"Infertilidade feminina por anomalias da zona pelúcida"},"pl":{"name":"Niepłodność żeńska z powodu wady osłonki przejrzystej","definition":"*Niepłodność żeńska z powodu wady osłonki przejrzystej jest rzadkim, genetycznie uwarunkowanym typem niepłodności u kobiet, który charakteryzuje się obecnością nieprawidłowych oocytów pozbawionych osłonki przejrzystej. Dotknięte wadą kobiety nie są w stanie zajść w ciążę pomimo niezaburzonego cyklu miesiączkowego, prawidłowego stężenia hormonów płciowych, drożnych jajowodów oraz prawidłowej budowy macicy i przydatków."},"cs":{"name":"Ženská neplodnost způsobená defektem zona pellucida"},"uk":{"name":"Жіноче безпліддя, зумовлене дефектом зони pellucida","definition":"Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa."},"zh":{"name":"透明带缺损导致的女性不育","definition":"由于透明带缺陷引起的女性不育是一种罕见的遗传性女性不育症，其特征在于存在缺乏透明带的异常卵母细胞。尽管月经周期和性激素水平正常，且无输卵管阻塞或子宫及附件异常，但患者仍无法受孕。"},"tr":{"name":"Zona pellusida defektine bağlı kadın infertilitesi"}},"xrefs":[{"source":"OMIM","code":"615774","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617712","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618353","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N97.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GA31.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014342","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749433","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98047,"name":"Rare infertility"},"parents":[{"orpha":404469,"name":"Rare female infertility due to oocyte maturation defect","classifications":[156,201]}],"children":[],"genes":[{"symbol":"ZP3","name":"zona pellucida glycoprotein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28886340[PMID]","hgnc":"13189","ensembl":"ENSG00000188372","omim":"182889","loci":["7q11.23"]},{"symbol":"ZP1","name":"zona pellucida glycoprotein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24670168[PMID]","hgnc":"13187","ensembl":"ENSG00000149506","omim":"195000","loci":["11q12.2"]},{"symbol":"ZP2","name":"zona pellucida glycoprotein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28646452[PMID]","hgnc":"13188","ensembl":"ENSG00000103310","omim":"182888","loci":["16p12.3-p12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"24670168[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24670168[PMID]"}],"phenotypes":null}