{"orpha":171709,"name":"Male infertility due to globozoospermia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Male infertility due to round-headed spermatozoa","Round-headed sperm syndrome"],"definition":"Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171709/","orphanet_url":"https://www.orpha.net/en/disease/detail/171709","names":{"fr":{"name":"Infertilité masculine avec globozoospermie","synonyms":["Infertilité masculine avec spermatozoïdes à tête ronde"],"definition":"L'infertilité masculine avec globozoospermie est une infertilité masculine due à une anomalie du sperme. Elle se caractérise par la présence dans le sperme d'une grande majorité de spermatozoïdes à tête ronde, dépourvus d'acrosome, et possédant une membrane nucléaire aberrante et des défauts au niveau du corps principal. Les spermatozoïdes dépourvus d'acrosome ne peuvent pas pénétrer la zone pellucide. Les échecs de fécondation sont fréquents, même en cas d'injection intracytoplasmique de sperme."},"de":{"name":"Männliche Infertilität durch Globozoospermie","synonyms":["Globozoospermie","Männliche Infertilität durch Rundkopf-Spermien"],"definition":"Eine Form der männliche Unfruchtbarkeit aufgrund einer Spermienstörung, die durch das Vorhandensein einer großen Vielzahl von rundköpfigen Spermatozoen in den Spermien gekennzeichnet ist, denen das Akrosom fehlt und die eine aberrante Kernmembran und Mittelstückdefekte aufweisen. Die akrosomlosen Spermatozoen sind nicht in der Lage, die Zona pellucida zu durchdringen, so dass Befruchtungsmisserfolge, selbst bei intrazytoplasmatischer Spermieninjektion, häufig sind."},"es":{"name":"Infertilidad masculina por globozoospermia","synonyms":["Infertilidad masculina por espermatozoides de cabeza redonda","Síndrome de esperma de cabeza redonda"],"definition":"La infertilidad masculina por globozoospermia es una infertilidad masculina debida a un trastorno espermático caracterizado por la presencia, en el esperma, de una gran mayoría de espermatozoides de cabeza redondeada que carecen de acrosoma y que presentan una membrana nuclear aberrante y defectos en la pieza intermedia. Los espermatozoides sin acrosoma no son capaces de penetrar en la zona pelúcida y, por lo tanto, son frecuentes los fallos en la fertilización, incluso con la inyección intracitoplasmática de esperma."},"it":{"name":"Sterilità maschile da globozoospermia","synonyms":["Sterilità maschile da spermatozoi a testa tonda"],"definition":"La sterilità maschile da globozoospermia è un'anomalia dello sperma caratterizzata dalla prevalente presenza di spermatozoi con testa arrotondata, privi di acrosoma, con membrana nucleare aberrante e difetti del segmento intermedio. Gli spermatozoi privi di acrosoma non sono in grado di penetrare la zona pellucida, perciò spesso la fecondazione non avviene, nemmeno attraverso l'iniezione intracitoplasmatica dello sperma."},"nl":{"name":"Mannelijke onvruchtbaarheid als gevolg van globozoöspermie","synonyms":["Mannelijke onvruchtbaarheid door rondkoppige spermatozoa","Rondkoppig sperma-syndroom"],"definition":"Mannelijke onvruchtbaarheid als gevolg van globozoöspermie is een mannelijke onvruchtbaarheid als gevolg van een spermastoornis die gekarakteriseerd wordt door de aanwezigheid, in sperma, van een grote meerderheid van rondkoppige spermatozoa waarbij het acrosoom ontbreekt en die een afwijkend nucleair membraan en defecten aan het middenstuk vertonen. De acrosoomloze spermatozoa zijn niet in staat de zona pellucida te penetreren, en dus komen onsuccesvolle bevruchtingen geregeld voor, zelfs met intracytoplasmatische injectie van sperma."},"pt":{"name":"Globozoospermia"},"pl":{"name":"Niepłodność męska z powodu globozoospermii","synonyms":["Niepłodność męska z powodu spermatozoa z okrągłą główką"]},"cs":{"name":"Mužská neplodnost způsobená globozoospermií","synonyms":["Mužská neplodnost způsobená kulatou hlavičkou spermií"]},"uk":{"name":"Чоловіче безпліддя через глобозооспермію","synonyms":["Чоловіче безпліддя через круглоголові сперматозоїди","Синдром круглоголових сперматозоїдів"],"definition":"Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent."},"zh":{"name":"圆头精子症所致男性不育症","synonyms":["圆头精子所致男性不育症"],"definition":"圆头精子所致不育症是一种由于精子障碍所致的男性不育症，其特征为大量无顶体、核膜异常和中段缺陷的圆头精子。无顶体精子不能穿透透明带，因此受精失败。即使通过卵胞浆内单精子注射，也常失败。"},"tr":{"name":"Globozoospermiye bağlı erkek infertilitesi","synonyms":["Yuvarlak başlı sperm sendromu","Yuvarlak başlı spermatozoaya bağlı erkek infertilitesi"]}},"xrefs":[{"source":"OMIM","code":"102530","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613958","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618420","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N46","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015746","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679591","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12502","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98047,"name":"Rare infertility"},"parents":[{"orpha":399808,"name":"Male infertility with teratozoospermia due to single gene mutation","classifications":[156,201]}],"children":[],"genes":[{"symbol":"GOPC","name":"golgi associated PDZ and coiled-coil motif containing","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"22049801[PMID]","hgnc":"17643","ensembl":"ENSG00000047932","omim":"606845","loci":["6q22.1"]},{"symbol":"SEPTIN4","name":"septin 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"36135717[PMID]","hgnc":"9165","ensembl":"ENSG00000108387","omim":"603696","loci":["17q22"]},{"symbol":"CATSPERT","name":"catsper channel auxiliary subunit tau","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31985809[PMID]","hgnc":"14438","ensembl":"ENSG00000155754","omim":"619776","loci":["2q33.1"]},{"symbol":"DPY19L2","name":"dpy-19 like 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21397063[PMID]_22571172[PMID]","hgnc":"19414","ensembl":"ENSG00000177990","omim":"613893","loci":["12q14.2"]},{"symbol":"GGN","name":"gametogenetin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31985809[PMID]","hgnc":"18869","ensembl":"ENSG00000179168","omim":"609966","loci":["19q13.2"]},{"symbol":"PICK1","name":"protein interacting with PRKCA 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20562896[PMID]_22571172[PMID]","hgnc":"9394","ensembl":"ENSG00000100151","omim":"605926","loci":["22q13.1"]},{"symbol":"PPP2R3C","name":"protein phosphatase 2 regulatory subunit B''gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30893644[PMID]","hgnc":"17485","ensembl":"ENSG00000092020","omim":"615902","loci":["14q13.2"]},{"symbol":"SPATA16","name":"spermatogenesis associated 16","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17847006[PMID]_22571172[PMID]","hgnc":"29935","ensembl":"ENSG00000144962","omim":"609856","loci":["3q26.31"]},{"symbol":"ZPBP","name":"zona pellucida binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31985809[PMID]","hgnc":"15662","ensembl":"ENSG00000042813","omim":"608498","loci":["7p12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[],"phenotypes":null}