{"orpha":276234,"name":"Non-syndromic male infertility due to sperm motility disorder","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Non-syndromic male infertility due asthenozoospermia"],"definition":"Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276234/","orphanet_url":"https://www.orpha.net/en/disease/detail/276234","names":{"fr":{"name":"Infertilité masculine non syndromique par défaut de motilité","synonyms":["Infertilité masculine non syndromique par asthénozoospermie"],"definition":"L'infertilité masculine non syndromique par défaut de motilité est un trouble génétique rare de la fertilité masculine, non syndromique. Elle se caractérise par une infertilité due à un défaut de structure du flagelle ou des cils des spermatozoïdes, ce qui conduit à une réduction ou une absence de leur motilité dans l'éjaculat frais. Une réduction du volume du sperme, une oligospermie et une augmentation du nombre de spermatozoïdes anormaux sont souvent présentes."},"de":{"name":"Männliche Infertilität durch Störung der Spermienmotilität, nicht syndromal","synonyms":["Männliche Infertilität durch Asthenozoospermie, nicht syndromal"],"definition":"Eine seltene, genetisch bedingte, nicht-syndromale männliche Form der Infertilitätsstörung, die durch Zilien-/Flagellenstrukturdefekte der Spermien hervorgerufen wird, was zu fehlender Motilität oder reduzierter Vorwärtsmotilität im frischen Ejakulat führt. Reduziertes Spermavolumen, Oligospermie und eine erhöhte Anzahl abnormal strukturierter Spermatozoen sind häufig vorhanden."},"es":{"name":"Infertilidad masculina no sindrómica por un trastorno de motilidad del esperma","synonyms":["Infertilidad masculina no sindrómica por astenozoospermia"],"definition":"La infertilidad masculina no sindrómica debida a un trastorno de motilidad espermática es un trastorno genético no sindrómico de infertilidad masculina debido a defectos en la estructura de los cilios/flagelos de los espermatozoides, lo que conlleva ausencia o reducción de la motilidad hacia adelante en el eyaculado fresco. Con frecuencia, se presenta una reducción del volumen de semen, oligospermia y un incremento del número de espermatozoides con estructura anormal."},"it":{"name":"Infertilità maschile non sindromica da disturbo della motilità degli spermatozoi","synonyms":["Infertilità maschile non sindromica da astenozoospermia"],"definition":"L'infertilità maschile non sindromica da disturbo della motilità degli spermatozoi è una malattia genetica, rara e non sindromica da infertilità maschile, caratterizzata da infertilità secondaria a difetti nella struttura delle ciglia e dei flagelli, che comportano l'assenza o la riduzione della motilità nell'eiaculato fresco. Spesso si osserva una riduzione del volume del seme, oligospermia e un aumento del numero degli spermatozoi con anomalie strutturali."},"nl":{"name":"Niet-syndromale mannelijke onvruchtbaarheid als gevolg van een spermamotiliteitsstoornis","synonyms":["Niet-syndromale mannelijke onvruchtbaarheid als gevolg van asthenozoöspermie"],"definition":"Niet-syndromale mannelijke onvruchtbaarheid als gevolg van een stoornis van de spermamotiliteit is een zeldzame, genetische, niet-syndromale mannelijke vruchtbaarheidsstoornis en wordt gekarakteriseerd door onvruchtbaarheid als gevolg van defecten aan de structuur van cilia/flagellen van zaadcellen, die leiden tot een afwezigheid van motiliteit of een verminderde voorwaartse motiliteit in vers ejaculaat. Vaak is er ook sprake van een verminderd spermavolume, oligospermie en een verhoogd aantal abnormaal gestructureerde zaadcellen."},"pt":{"name":"Infertilidade masculina não sindromática por doença da motilidade do esperma"},"pl":{"name":"Niesyndromiczna niepłodność męska spowodowana zaburzeniem ruchliwości plemników","synonyms":["Niesyndromiczna niepłodność męska spowodowana astenozoospermią"]},"cs":{"name":"Nesyndromická mužská neplodnost způsobená poruchou motility spermií","synonyms":["Nesyndromická mužská neplodnost způsobená astenozoospermií"]},"uk":{"name":"Несиндромальне чоловіче безпліддя через порушення рухливості сперматозоїдів","synonyms":["Несиндромальне чоловіче безпліддя внаслідок астенозооспермії"],"definition":"Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present."},"zh":{"name":"精子活力障碍所致非综合征性男性不育","synonyms":["弱精症所致非综合征性男性不育"],"definition":"精子运动障碍所致的非综合征性男性不育是一种罕见的遗传性非综合征性男性不育疾病，其特征是精子纤毛/鞭毛结构缺陷，导致新鲜射精液缺乏运动能力或向前运动的能力降低。通常会出现精液量减少、少精子症和结构异常的精子数量增加。"},"tr":{"name":"Sperm motilite bozukluğuna bağlı sendromik olmayan erkek infertilitesi","synonyms":["Astenozoospermiye bağlı sendromik olmayan erkek infertilitesi"]}},"xrefs":[{"source":"OMIM","code":"301099","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"301101","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606766","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612997","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614822","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617576","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617592","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617593","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617959","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617965","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618152","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618153","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618429","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618433","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618643","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618664","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618670","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618745","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618751","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620277","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620354","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620705","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N46","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB04.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017173","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0403811","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98047,"name":"Rare infertility"},"parents":[{"orpha":399813,"name":"Male infertility due to sperm motility disorder","classifications":[156,201]}],"children":[],"genes":[{"symbol":"AKAP4","name":"A-kinase anchoring protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"34415320[PMID]","hgnc":"374","ensembl":"ENSG00000147081","omim":"300185","loci":["Xp11.22"]},{"symbol":"CFAP43","name":"cilia and flagella associated protein 43","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28552195[PMID]","hgnc":"26684","ensembl":"ENSG00000197748","omim":"617558","loci":["10q25.1"]},{"symbol":"CFAP44","name":"cilia and flagella associated protein 44","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28552195[PMID]","hgnc":"25631","ensembl":"ENSG00000206530","omim":"617559","loci":["3q13.2"]},{"symbol":"DRC1","name":"dynein regulatory complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"34169321[PMID]","hgnc":"24245","ensembl":"ENSG00000157856","omim":"615288","loci":["2p23.3"]},{"symbol":"SPEF2","name":"sperm flagellar and cilia associated 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31151990[PMID]","hgnc":"26293","ensembl":"ENSG00000152582","omim":"610172","loci":["5p13.2"]},{"symbol":"ACTL9","name":"actin like 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33626338[PMID]","hgnc":"28494","ensembl":"ENSG00000181786","omim":"619251","loci":["19p13.2"]},{"symbol":"AK7","name":"adenylate kinase 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29365104[PMID]","hgnc":"20091","ensembl":"ENSG00000140057","omim":"615364","loci":["14q32.2"]},{"symbol":"AK9","name":"adenylate kinase 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37713809[PMID]","hgnc":"33814","ensembl":"ENSG00000155085","omim":"615358","loci":["6q21"]},{"symbol":"ARMC2","name":"armadillo repeat containing 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30686508[PMID]","hgnc":"23045","ensembl":"ENSG00000118690","omim":"618424","loci":["6q21"]},{"symbol":"CATSPER1","name":"cation channel sperm associated 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19344877[PMID]","hgnc":"17116","ensembl":"ENSG00000175294","omim":"606389","loci":["11q13.1"]},{"symbol":"CFAP251","name":"cilia and flagella associated protein 251","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30122540[PMID]","hgnc":"28506","ensembl":"ENSG00000158023","omim":"618146","loci":["12q24.31"]},{"symbol":"CFAP65","name":"cilia and flagella associated protein 65","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31413122[PMID]","hgnc":"25325","ensembl":"ENSG00000181378","omim":"614270","loci":["2q35"]},{"symbol":"CFAP69","name":"cilia and flagella associated protein 69","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29606301[PMID]","hgnc":"26107","ensembl":"ENSG00000105792","omim":"617949","loci":["7q21.13"]},{"symbol":"CFAP70","name":"cilia and flagella associated protein 70","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31621862[PMID]","hgnc":"30726","ensembl":"ENSG00000156042","omim":"618661","loci":["10q22.2"]},{"symbol":"DNAH1","name":"dynein axonemal heavy chain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24360805[PMID]","hgnc":"2940","ensembl":"ENSG00000114841","omim":"603332","loci":["3p21.1"]},{"symbol":"DNAH17","name":"dynein axonemal heavy chain 17","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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in","status":"Assessed","source":"22275165[PMID]","hgnc":"26348","ensembl":"ENSG00000140623","omim":"611562","loci":["16p13.3"]},{"symbol":"SLC26A8","name":"solute carrier family 26 member 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23582645[PMID]","hgnc":"14468","ensembl":"ENSG00000112053","omim":"608480","loci":["6p21.31"]},{"symbol":"SPAG17","name":"sperm associated antigen 17","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28548327[PMID]","hgnc":"26620","ensembl":"ENSG00000155761","omim":"616554","loci":["1p12"]},{"symbol":"SSX1","name":"SSX family member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36796361[PMID]","hgnc":"11335","ensembl":"ENSG00000126752","omim":"312820","loci":["Xp11.23"]},{"symbol":"TEKT3","name":"tektin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36708031[PMID]","hgnc":"14293","ensembl":"ENSG00000125409","omim":"612683","loci":["17p12"]},{"symbol":"TTC21A","name":"tetratricopeptide repeat domain 21A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30929735[PMID]","hgnc":"30761","ensembl":"ENSG00000168026","omim":"611430","loci":["3p22.2"]},{"symbol":"TTC29","name":"tetratricopeptide repeat domain 29","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31735292[PMID]_31735294[PMID]","hgnc":"29936","ensembl":"ENSG00000137473","omim":"618735","loci":["4q31.22"]},{"symbol":"USP26","name":"ubiquitin specific peptidase 26","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34202084[PMID]","hgnc":"13485","ensembl":"ENSG00000134588","omim":"300309","loci":["Xq26.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}