{"orpha":254688,"name":"Complete hydatidiform mole","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Complete molar pregnancy"],"definition":"A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254688/","orphanet_url":"https://www.orpha.net/en/disease/detail/254688","names":{"fr":{"name":"Môle hydatiforme complète","synonyms":["Grossesse môlaire complète"],"definition":"Forme de môle hydatiforme caractérisée par des trophoblastes hyperplasiques et des villosités hydropiques anormaux, dus à la fertilisation d'un ovocyte énucléé par un ou deux spermatozoïde(s) haploïde(s), et pouvant se manifester par une hémorragie vaginale associée à des nausées, de fréquents vomissements, une hyperémèse gravidique, un risque d'avortement spontané et une hyperthyroïdie. Une évolution vers un choriocarcinome est possible."},"de":{"name":"Mole, hydatiforme komplette","synonyms":["Blasenmole, vollständige"],"definition":"Eine Form der hydatiformen Mole, die durch abnorme hyperplastische Trophoblasten und hydrophile Zotten infolge der Befruchtung einer enukleierten Oozyte durch ein oder zwei haploide Spermatozoen gekennzeichnet ist und zu vaginalen Blutungen, begleitet von Übelkeit und häufigem Erbrechen, Hyperemesis gravidarum, dem Risiko eines Spontanaborts und einer Hyperthyreose sowie möglicherweise zur Entwicklung eines Chorionkarzinoms führen kann."},"es":{"name":"Mola hidatidiforme completa","synonyms":["Embarazo molar completo"],"definition":"Es una forma de mola hidatiforme caracterizada por trofoblastos hiperplásicos anómalos y vellosidades hidrópicas debidas a la fecundación de un ovocito enucleado por uno o dos espermatozoides haploides. Puede manifestarse con hemorragia vaginal acompañada de náuseas y vómitos frecuentes, hiperémesis gravídica, riesgo de aborto espontáneo e hipertiroidismo, y tiene el potencial de convertirse en coriocarcinoma."},"it":{"name":"Mola idatiforme completa","synonyms":["Gravidanza molare completa"],"definition":"La mola idatiforme completa è una forma di mola idatiforme (si veda questo termine), caratterizzata da iperplasia del trofoblasto e villi coriali idropici. È secondaria alla fecondazione di un ovocita enucleato da parte di uno o due spermatozoi aploidi. Si può manifestare con un'emorragia vaginale, associata a nausea e vomito frequente, iperemesi gravidica, rischio di aborto spontaneo, e ipertiroidismo. Può evolvere in coriocarcinoma (si veda questo termine)."},"nl":{"name":"Complete mola hydatidosa","synonyms":["Complete mola-zwangerschap","Complete molaire zwangerschap","Complete molazwangerschap","Volledige mola hydatidosa"],"definition":"Een vorm van mola hydatidosa, gekenmerkt door abnormale hyperplastische trofoblasten en hydropische villi ten gevolge van bevruchting van een kernloze oöcyt door een of twee haploïde spermacellen, en zich manifesterend met vaginale bloeding vergezeld van misselijkheid en frequent braken, hyperemesis gravidarum, risico op spontane miskraam, hyperthyreoïdie, en risico op verdere ontwikkeling tot choriocarcinoom."},"pt":{"name":"Mola hidatidiforme completa","synonyms":["Gravidez molar completa"],"definition":"Forma de mola hidatiforme caracterizada por trofoblastos hiperplásicos anómalos e vilosidades hidrópicas devido à fertilização de um ovócito enucleado por um ou dois espermatozóides haplóides e pode manifestar-se sob a forma de sangramento vaginal acompanhado de náuseas e vómitos frequentes, hiperemese gravídica, risco de aborto espontâneo, hipertiroidismo e tem o potencial para evoluir para coriocarcinoma."},"pl":{"name":"Całkowity zaśniad groniasty","synonyms":["Complete molar pregnancy"],"definition":"Postać zaśniadu groniastego, która charakteryzuje się obecnością nieprawidłowych, hiperplastycznych komórek trofoblastu oraz obrzękniętych kosmków w wyniku zapłodnienia enukleowanego oocytu jednym lub dwoma haploidalnymi plemnikami i może objawiać się krwawieniem z pochwy z towarzyszącymi nudnościami i uporczywymi wymiotami, niepowściągliwymi wymiotami ciężarnych, ryzykiem samoistnego poronienia, nadczynnością tarczycy oraz możliwością przekształcenia w kosmówczaka."},"cs":{"name":"Kompletní hydatidiformní mola","synonyms":["Kompletní molární těhotenství"]},"uk":{"name":"Повна гідратоподібна родимка","synonyms":["Повна молярна вагітність"],"definition":"A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma."},"zh":{"name":"完全性葡萄胎","synonyms":["完全性葡萄胎妊娠"],"definition":"完全性葡萄胎是葡萄胎(见该词条)的一种类型，其特征是一个去核的卵子与一个或两个单倍体精子受精后出现异常增生的滋养细胞和水肿的绒毛，表现为阴道出血并伴有恶心和频繁呕吐，妊娠剧吐，自然流产，甲状腺机能亢进，并有可能发展为绒毛膜癌(见该词条)。"},"tr":{"name":"Tam hidatidiform mol","synonyms":["Tam molar gebelik"]}},"xrefs":[{"source":"OMIM","code":"231090","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614293","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618431","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618432","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"O01.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"JA02.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1338299833"},{"source":"MONDO","code":"0016785","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0678213","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":99927,"name":"Hydatidiform mole","classifications":[202,205]}],"children":[],"genes":[{"symbol":"KHDC3L","name":"KH domain containing 3 like, subcortical maternal complex member","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21885028[PMID]_24533231[PMID]","hgnc":"33699","ensembl":"ENSG00000203908","omim":"611687","loci":["6q13"]},{"symbol":"MEI1","name":"meiotic double-stranded break formation protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30388401[PMID]","hgnc":"28613","ensembl":"ENSG00000167077","omim":"608797","loci":["22q13.2"]},{"symbol":"NLRP7","name":"NLR family pyrin domain containing 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19246479[PMID]_24533231[PMID]","hgnc":"22947","ensembl":"ENSG00000167634","omim":"609661","loci":["19q13.42"]},{"symbol":"TOP6BL","name":"TOP6B like initiator of meiotic double strand breaks","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30388401[PMID]","hgnc":"26197","ensembl":"ENSG00000173715","omim":"616109","loci":["11q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}