{"orpha":137893,"name":"Male infertility due to large-headed multiflagellar polyploid spermatozoa","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Macrocephalic sperm head syndrome","Male infertility due to macrozoospermia"],"definition":"A rare male infertility due to a sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137893/","orphanet_url":"https://www.orpha.net/en/disease/detail/137893","names":{"fr":{"name":"Infertilité masculine associée à des spermatozoïdes à tête large, polyploïdes, multiflagellés","definition":"Infertilité masculine due à une anomalie du sperme. Elle se caractérise par la présence dans le sperme d'un pourcentage très élevé de spermatozoïdes possédant une tête large, de forme irrégulière, un flagelle multiple, une pièce principale anormale et un acrosome. Elle est généralement associée à une oligo-asthénozoospermie sévère et à un taux élevé d'anomalies chromosomiques spermatiques (polyploïdie, aneuploïdie)."},"de":{"name":"Männliche Infertilität durch großköpfige multiflagelläre poloploide Spermatozoen","synonyms":["Makrozephalische Spermien-Syndrom","Männliche Infertilität durch Makrozoospermie"],"definition":"Eine seltene Form der männlichen Infertilität, die durch eine Spermienanomalie verursacht wird, bei der ein sehr hoher Prozentsatz der Spermien einen vergrößerten Kopf, eine unregelmäßige Kopfform, mehrere Flagellen und ein abnormes Mittelstück und Akrosom aufweist. Sie ist in der Regel mit einer schweren Oligoasthenozoospermie und einer hohen Rate an chromosomalen Anomalien der Spermien (Polyploidie, Aneuploidie) verbunden."},"es":{"name":"Infertilidad masculina por espermatozoides poliploides multiflagelados con cabeza grande","synonyms":["Infertilidad masculina por macrozoospermia","Síndrome de cabeza espermática macrocefálica"],"definition":"Es una forma de infertilidad masculina debida a un trastorno espermático caracterizado por la presencia, en el esperma, de un porcentaje muy elevado de espermatozoides con cabeza agrandada y forma irregular, múltiples flagelos y pieza intermedia y acrosoma anómalos. En general, se asocia con oligoastenozoospermia grave y una elevada tasa de anomalías cromosómicas espermáticas (poliploidía, aneuploidía)."},"it":{"name":"Sterilità maschile associata a spermatozoi poliploidi multiflagellati a testa grande","definition":"La sterilità maschile associata a spermatozoi poliploidi multiflagellati a testa grande è un'infertilità maschile secondaria a un'anomalia dello sperma; è caratterizzata dalla presenza di una percentuale molto elevata di spermatozoi con testa grande e di forma irregolare, flagelli multipli, anomalie del segmento intermedio e dell'acrosoma. Di solito si associa a oligoastenozoospermia grave e ad una percentuale elevata di anomalie cromosomiche nello sperma (poliploidia, aneuploidia)."},"nl":{"name":"Mannelijke onvruchtbaarheid geassocieerd met grootkoppige multiflagellaire polyploïde spermatozoa","synonyms":["Macrocefalische spermakop-syndroom","Mannelijke onvruchtbaarheid door macrozoöspermie"],"definition":"Een zeldzame mannelijke onvruchtbaarheid door een aandoening van sperma, gekenmerkt door de aanwezigheid in sperma van een hoog percentage spermatozoa met vergrote kop, onregelmatige vorm van kop, multipele flagella, en abnormaal middenstuk en acrosoom. De ziekte is doorgaans geassocieerd met ernstige oligoasthenozoöspermie en een hoog aantal chromosomale afwijkingen (polyploïdie, aneuploïdie) in spermacellen."},"pt":{"name":"Infertilidade masculina devida a espermatozóides poliplóides multiflagelados de cabeça grande","synonyms":["Infertilidade masculina por macrozoospermia","Síndrome de cabeça espermática macrocefálica"]},"pl":{"name":"Male infertility associated with large-headed multiflagellar polyploid spermatozoa","synonyms":["Macrocephalic sperm head syndrome","Male infertility due to macrozoospermia"],"definition":"Rzadka niepłodność męska spowodowana nieprawidłowością nasienia, która charakteryzuje się obecnością w nasieniu bardzo dużego odsetka plemników z powiększoną główką, nieregularnym kształtem główki, mnogimi wiciami oraz nieprawidłową wstawką i akrosomem. Jest zwykle związana z ciężką oligoastenozoospermią i wysokim odsetkiem nieprawidłowości chromosomalnych w plemnikach (poliploidia, aneuploidia)."},"cs":{"name":"Mužská neplodnost způsobená polyploidními spermiemi s velkou hlavičkou a více bičíky","synonyms":["Macrocephalic sperm head syndrome","Male infertility due to macrozoospermia"]},"uk":{"name":"Чоловіче безпліддя, спричинене поліплоїдними багатоджгутиковими сперматозоїдами з великими головками","synonyms":["Синдром макроцефальної головки сперматозоїда","Чоловіче безпліддя через макрозооспермію"],"definition":"A rare male infertility due to a sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy)."},"zh":{"name":"大头部多鞭毛息肉状异常精子所致男性不育症","synonyms":["巨精子头综合征"],"definition":"大头、多鞭毛和多倍体精子导致的男性不育是一种精子障碍导致的男性不育，其特征是很大比例的精子呈头部增大、头部形状不规则、多鞭毛、中段和顶体异常。通常与严重的活精子稀少无力和畸形，以及高比率的精子染色体异常（多倍体，非整倍体）相关。"},"tr":{"name":"Büyük başlı multiflagellar poliploid spermatozoaya bağlı erkek infertilitesi","synonyms":["Makrozoospermiye bağlı erkek infertilitesi","Makrosefalik sperm başı sendromu"]}},"xrefs":[{"source":"OMIM","code":"243060","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"301059","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619515","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619585","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619712","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620353","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620409","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620744","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N46","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"MF7Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009461","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562903","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0403812","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12385","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":"AKAP3","name":"A-kinase anchoring protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"35228300[PMID]","hgnc":"373","ensembl":"ENSG00000111254","omim":"604689","loci":["12p13.32"]},{"symbol":"ARMC12","name":"armadillo repeat containing 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"35534203[PMID]","hgnc":"21099","ensembl":"ENSG00000157343","omim":"620377","loci":["6p21.31"]},{"symbol":"AURKC","name":"aurora kinase C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17435757[PMID]_21733974[PMID]","hgnc":"11391","ensembl":"ENSG00000105146","omim":"603495","loci":["19q13.43"]},{"symbol":"CFAP47","name":"cilia and flagella associated protein 47","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33472045[PMID]","hgnc":"26708","ensembl":"ENSG00000165164","omim":"301057","loci":["Xp21.1"]},{"symbol":"CFAP61","name":"cilia and flagella associated protein 61","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35387802[PMID]","hgnc":"15872","ensembl":"ENSG00000089101","omim":"620381","loci":["20p11.23"]},{"symbol":"DNAH10","name":"dynein axonemal heavy chain 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34237282[PMID]","hgnc":"2941","ensembl":"ENSG00000197653","omim":"605884","loci":["12q24.31"]},{"symbol":"DNHD1","name":"dynein heavy chain domain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34932939[PMID]","hgnc":"26532","ensembl":"ENSG00000179532","omim":"617277","loci":["11p15.4"]},{"symbol":"IFT74","name":"intraflagellar transport 74","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33689014[PMID]","hgnc":"21424","ensembl":"ENSG00000096872","omim":"608040","loci":["9p21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}