{"orpha":488191,"name":"Female infertility due to oocyte meiotic arrest","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic female infertility characterized by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilization failure or early embryonic arrest. Affected women have regular menstrual cycles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-488191/","orphanet_url":"https://www.orpha.net/en/disease/detail/488191","names":{"fr":{"name":"Infertilité féminine due à un blocage en méiose","synonyms":["Infertilité féminine due à un blocage méiotique"],"definition":"Infertilité féminine rare d'origine génétique caractérisée par un arrêt de la maturation des ovocytes au cours de l'une des différentes étapes de la méiose I ou II. Chez certaines patientes, le premier corps polaire des ovocytes peut être récupéré mais un échec de la fécondation ou un arrêt du développement embryonnaire précoce est observé. Chez les femmes affectées, les cycles menstruels sont réguliers."},"de":{"name":"Infertilität, weibliche, durch Stillstand der meiotischen Eizellreifung","definition":"Eine seltene genetisch bedingte weibliche Infertilität, die durch einen Reifungsstillstand der Eizellen während eines der verschiedenen Stadien der Meiose I oder II gekennzeichnet ist. Bei einigen Patientinnen können erste Polkörper-Eizellen entnommen werden, die jedoch entweder nicht befruchtet werden oder einen frühen Embryo-Stillstand aufweisen. Betroffene Frauen haben regelmäßige Menstruationszyklen."},"es":{"name":"Infertilidad femenina por arresto meiótico del ovocito","definition":"Es un tipo de infertilidad femenina de origen genético poco frecuente que se caracteriza por el arresto de la maduración de los ovocitos en cualquiera de las distintas fases de la meiosis I o II. En algunas pacientes, pueden recuperarse los ovocitos del primer corpúsculo polar, pero éstos muestran un fallo de fecundación o un arresto embrionario temprano. Las mujeres afectas presentan ciclos menstruales regulares."},"it":{"name":"Infertilità femminile da arresto meiotico degli ovociti","definition":"Si tratta di un'infertilità femminile rara, di origine genetica, caratterizzata da un arresto della maturazione degli ovociti durante una delle fasi della meiosi I o II. In alcune pazienti è possibile recuperare i primi ovociti del corpo polare, che presentano tuttavia una mancata fecondazione o un arresto embrionale precoce. Le pazienti presentano cicli mestruali regolari."},"nl":{"name":"Vrouwelijke infertiliteit door meiotisch arrest van oöcyt","definition":"Een zeldzame, genetische vrouwelijke infertiliteit, gekarakteriseerd door een arrest van de maturatie van oöcyten tijdens een van de verschillende fases van meiose I of II. Bij sommige patiënten kunnen oöcyten met eerste poollichaampje verzameld worden, maar deze vertonen falen van de fertilisatie of vroeg embryonaal arrest. Getroffen vrouwen hebben een regelmatige menstruatiecyclus."},"pt":{"name":"Infertilidade feminina por paragem meiótica do oócito"},"pl":{"name":"Niepłodność żeńska z powodu zatrzymania oocytu w mejozie"},"cs":{"name":"Ženská neplodnost způsobená zástavou meiózy oocytů"},"uk":{"name":"Жіноче безпліддя, зумовлене зупинкою мейозу ооцитів","definition":"A rare genetic female infertility characterized by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilization failure or early embryonic arrest. Affected women have regular menstrual cycles."},"zh":{"name":"卵母细胞减数分裂停滞引起的女性不育"},"tr":{"name":"Oosit mayotik tutukluğa bağlı kadın infertilitesi"}},"xrefs":[{"source":"OMIM","code":"616780","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616814","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617234","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617743","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617996","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618550","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619009","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619011","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619176","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619697","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620154","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620319","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620332","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620333","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620383","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620610","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621471","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":"0044626","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567489","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":"PANX1","name":"pannexin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"33495594[PMID]","hgnc":"8599","ensembl":"ENSG00000110218","omim":"608420","loci":["11q21"]},{"symbol":"PATL2","name":"PAT1 homolog 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28965849[PMID]","hgnc":"33630","ensembl":"ENSG00000229474","omim":"614661","loci":["15q21.1"]},{"symbol":"WEE2","name":"WEE2 oocyte meiosis inhibiting kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29606300[PMID]","hgnc":"19684","ensembl":"ENSG00000214102","omim":"614084","loci":["7q34"]},{"symbol":"CDC20","name":"cell division cycle 20","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32666501[PMID]_33683667[PMID]","hgnc":"1723","ensembl":"ENSG00000117399","omim":"603618","loci":["1p34.2"]},{"symbol":"CHEK1","name":"checkpoint kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33953335[PMID]","hgnc":"1925","ensembl":"ENSG00000149554","omim":"603078","loci":["11q24.2"]},{"symbol":"FBXO43","name":"F-box protein 43","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34052850[PMID]","hgnc":"28521","ensembl":"ENSG00000156509","omim":"609110","loci":["8q22.2"]},{"symbol":"KPNA7","name":"karyopherin subunit alpha 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36647821[PMID]","hgnc":"21839","ensembl":"ENSG00000185467","omim":"614107","loci":["7q22.1"]},{"symbol":"MOS","name":"MOS proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34779126[PMID]_34997960[PMID]","hgnc":"7199","ensembl":"ENSG00000172680","omim":"190060","loci":["8q12.1"]},{"symbol":"NLRP2","name":"NLR family pyrin domain containing 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30877238[PMID]","hgnc":"22948","ensembl":"ENSG00000022556","omim":"609364","loci":["19q13.42"]},{"symbol":"NLRP5","name":"NLR family pyrin domain containing 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35946397[PMID]","hgnc":"21269","ensembl":"ENSG00000171487","omim":"609658","loci":["19q13.43"]},{"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":"37148315[PMID]","hgnc":"22947","ensembl":"ENSG00000167634","omim":"609661","loci":["19q13.42"]},{"symbol":"PADI6","name":"peptidyl arginine deiminase 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27545678[PMID]","hgnc":"20449","ensembl":null,"omim":null,"loci":["1p36.13"]},{"symbol":"TLE6","name":"TLE family member 6, subcortical maternal complex member","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26537248[PMID]","hgnc":"30788","ensembl":"ENSG00000104953","omim":"612399","loci":["19p13.3"]},{"symbol":"TUBB8","name":"tubulin beta 8 class VIII","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26789871[PMID]","hgnc":"20773","ensembl":"ENSG00000261456","omim":"616768","loci":["10p15.3"]},{"symbol":"ZFP36L2","name":"ZFP36 like 2 zinc finger CCCH-type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34611029[PMID]","hgnc":"1108","ensembl":"ENSG00000152518","omim":"612053","loci":["2p21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"27273344[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27273344[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-01","source":"20378111[PMID]_28965844[PMID]_26789871[PMID]","terms":[{"hpo":"HP:0031515","label":"Abnormal meiosis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008222","label":"Female infertility","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0031516","label":"Oocyte arrest at metaphase I","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020155","label":"Abnormal oocyte morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008669","label":"Abnormal spermatogenesis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Excluded (0%)","criteria":null}]}}