{"orpha":99927,"name":"Hydatidiform mole","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Molar pregnancy"],"definition":"A rare, benign gestational trophoblastic disease that develops during pregnancy and is characterized by the abnormal fertilization, trophoblastic proliferation, and abnormal or absent embryo development. Hydatidiform moles can be either complete or partial.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99927/","orphanet_url":"https://www.orpha.net/en/disease/detail/99927","names":{"fr":{"name":"Môle hydatiforme","synonyms":["Grossesse môlaire"],"definition":"Maladie trophoblastique gestationnelle rare et bénigne, se développant au cours de la grossesse, caractérisée par une anomalie de la fécondation, une prolifération du trophoblaste et une anomalie ou l'arrêt du développement embryonnaire. Les môles hydatiformes peuvent être complètes ou partielles."},"de":{"name":"Mola hydatidosa","synonyms":["Blasenmole"],"definition":"Eine gutartige trophoblastische Schwangerschaftserkrankung, die sich während der Schwangerschaft entwickelt und durch abnorme Befruchtung, trophoblastische Proliferation und abnorme oder fehlende Embryonalentwicklung gekennzeichnet ist. Hydatiforme Mole (Blasenmole) können entweder vollständig oder teilweise sein."},"es":{"name":"Mola hidatiforme","synonyms":["Embarazo molar"],"definition":"Es una enfermedad trofoblástica gestacional benigna poco frecuente que se desarrolla durante el embarazo y que está caracterizada por fertilización anómala, proliferación trofoblástica y desarrollo embrionario anómalo o ausente. Las molas hidatiformes pueden ser completas o parciales."},"it":{"name":"Mola idatiforme","synonyms":["Gravidanza molare"],"definition":"La mola idatidiforme è un malattia benigna del trofoblasto, che si sviluppa durante la gravidanza. È dovuta a un difetto della fecondazione ed è caratterizzata dalla proliferazione del trofoblasto, che impedisce lo sviluppo normale dell'embrione. Le mole idatiformi possono essere complete o parziali."},"nl":{"name":"Mola hydatidosa","synonyms":["Mola-zwangerschap","Molaire zwangerschap","Molazwangerschap"],"definition":"Een zeldzame goedaardige gestationele trofoblastziekte die ontwikkelt tijdens de zwangerschap, gekenmerkt door abnormale fertilisatie, proliferatie van trofoblasten, en abnormale of afwezige ontwikkeling van embryo. Mola hydatidosa (mola-zwangerschap) kan compleet of partieel zijn."},"pt":{"name":"Mola hidatidiforme","definition":"Doença trofoblástica gestacional benigna e rara que se desenvolve durante a gravidez e é caracterizada por fertilização anómala, proliferação trofoblástica e desenvolvimento embrionário anómalo ou ausente. As molas hidatiformes podem ser completas ou parciais."},"pl":{"name":"Zaśniad groniasty","synonyms":["Zaśniad ciążowy"]},"cs":{"name":"Hydatiformní mola","synonyms":["Molární těhotenství"]},"uk":{"name":"Гідатидоподібна родимка","synonyms":["Молярна вагітність"],"definition":"A rare, benign gestational trophoblastic disease that develops during pregnancy and is characterized by the abnormal fertilization, trophoblastic proliferation, and abnormal or absent embryo development. Hydatidiform moles can be either complete or partial."},"zh":{"name":"葡萄胎","synonyms":["葡萄胎妊娠"],"definition":"葡萄胎是妊娠期间发生的一种良性妊娠滋养细胞疾病。由于以滋养层增殖为特征的异常受精，正常的胚胎发育是不存在。葡萄胎可以是完全性葡萄胎，也可以是部分性葡萄胎。"},"tr":{"name":"Hidatidiform mol","synonyms":["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":"ICD-10","code":"O01.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"O01.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"O01.9","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"JA02","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"946166369"},{"source":"MONDO","code":"0006248","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006828","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0020217","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10263","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10020481","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":254685,"name":"Gestational trophoblastic disease","classifications":[202,205]}],"children":[{"orpha":254688,"name":"Complete hydatidiform mole","type":"Clinical subtype"},{"orpha":254693,"name":"Partial hydatidiform mole","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":254688,"name":"Complete hydatidiform mole"}},{"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":"24533231[PMID]","hgnc":"33699","ensembl":"ENSG00000203908","omim":"611687","loci":["6q13"],"via":{"orpha":254693,"name":"Partial hydatidiform mole"}},{"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"],"via":{"orpha":254688,"name":"Complete hydatidiform mole"}},{"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"],"via":{"orpha":254688,"name":"Complete hydatidiform mole"}},{"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"],"via":{"orpha":254693,"name":"Partial hydatidiform mole"}},{"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"],"via":{"orpha":254688,"name":"Complete hydatidiform mole"}}],"inheritance":["Autosomal recessive","Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100878","label":"Enlarged uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0400008","label":"Menometrorrhagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100602","label":"Preeclampsia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000836","label":"Hyperthyroidism","frequency":"Occasional (29-5%)","criteria":null}]}}