{"orpha":399808,"name":"Male infertility with teratozoospermia due to single gene mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-399808/","orphanet_url":"https://www.orpha.net/en/disease/detail/399808","names":{"fr":{"name":"Infertilité masculine monogénique avec tératozoospermie","definition":"L'infertilité masculine monogénique avec tératozoospermie est une infertilité masculine génétique rare due à une anomalie du sperme. Elle se caractérise par la présence de spermatozoïdes de morphologie anormale (telle qu'une macrozoospermie ou une globozoospermie) dans plus de 85% du sperme, à cause d'une mutation monogénique connue pour causer une tératozoospermie. Il s'agit d'un groupe hétérogène incluant une grande variété de phénotypes spermiques anormaux, et affectant (seulement ou simultanément) la tête, le cou, la partie médiane et/ou la queue des spermatozoïdes."},"de":{"name":"Männliche Infertilität mit Teratozoospermie durch Mutation eines einzelnen Gens","definition":"Eine seltene, genetisch bedingte männliche Unfruchtbarkeit aufgrund einer Spermienstörung, die durch das Vorhandensein von Spermien mit abnormaler Morphologie, wie Makrozoospermie oder Globozoospermie, in über 85 % der Spermien gekennzeichnet ist und aus einer Mutation in einem einzelnen Gen resultiert, das bekanntermaßen Teratozoospermie verursacht. Es handelt sich um eine heterogene Gruppe, die ein breites Spektrum an abnormalen Spermienphänotypen umfasst, die ausschließlich oder gleichzeitig Kopf, Hals, Mittelstück und/oder Schwanz betreffen."},"es":{"name":"Infertilidad masculina con teratozoospermia por una única mutación genética","definition":"La infertilidad masculina con teratozoospermia por mutación de un solo gen es una infertilidad masculina genética poco frecuente debida a un trastorno espermático caracterizado por la presencia de espermatozoides con morfología anómala, como macrozoospermia o globozoospermia, en más del 85% del esperma, como resultado de la mutación en un solo gen que se sabe que causa teratozoospermia. Se trata de un grupo heterogéneo que incluye una amplia gama de fenotipos de espermatozoides anómalos que afectan, única o simultáneamente, a la cabeza, el cuello, la pieza intermedia y/o la cola."},"it":{"name":"Sterilità maschile con teratozoospermia da mutazione di un singolo gene","definition":"La sterilità maschile con teratozoospermia da mutazione di un singolo gene è un'anomalia dello sperma rara di origine genetica, caratterizzata dalla presenza di spermatozoi con anomalie morfologiche, come la macrozoospermia o la globozoospermia in oltre l'85% degli spermatozoi, causate da una mutazione in un singolo gene ritenuto responsabile della teratozoospermia. Si tratta di un gruppo eterogeneo di malattie che comprende un'ampia gamma di anomalie dello sperma che interessano, isolatamente o contemporaneamente, la testa, il collo, il segmento intermedio e/o la coda."},"nl":{"name":"Mannelijke infertiliteit met teratozoöspermie door een enkele genmutatie","definition":"Mannelijke onvruchtbaarheid met teratozoöspermie door een enkele genmutatie is een zeldzame, genetische mannelijke onvruchtbaarheid als gevolg van spermastoornis en wordt gekarakteriseerd door de aanwezigheid van spermatozoa met een abnormale morfologie, zoals macrozoöspermie of globozoöspermie, in meer dan 85% van het sperma, ten gevolge van een mutatie in één enkel gen waarvan geweten is dat ze teratozoöspermie veroorzaakt. Het gaat om een heterogene groep die een brede waaier aan abnormale fenotypes van sperma bevat waarbij, enkel of tegelijk, de kop, de nek, het middenstuk, en/of de staart getroffen worden."},"pt":{"name":"Infertilidade masculina com teratozoospermia por mutação num único gene"},"pl":{"name":"Niepłodność męska z teratozoospermią z powodu mutacji pojedyńczego genu"},"cs":{"name":"Mužská neplodnost s teratozoospermií způsobená mutací v jednom genu","synonyms":["Monogenní mužská neplodnost s teratozoospermií"]},"uk":{"name":"Чоловіче безпліддя з тератозооспермією внаслідок мутації одного гена","definition":"Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail."},"zh":{"name":"男性不育伴单基因突变所致畸形性精子症","definition":"男性不育伴单基因突变所致畸精症是一种罕见的遗传性男性不育，其特征是在85%以上的精子存在形态异常，如大精子症或球精症。畸形精子症是由单基因突变所致。本病存在异质性，囊括了广泛的异常精子表型，可单独或同时影响头部、颈部、中部和/或尾部。"},"tr":{"name":"Tek gen mutasyonuna bağlı teratozoospermi ile seyreden erkek infertilitesi"}},"xrefs":[{"source":"OMIM","code":"102530","qualifier":"BTNT","icd_relation":null,"validated":true},{"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":"613958","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615413","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618420","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619044","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619094","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619095","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619102","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619144","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619145","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619177","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619258","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":"GB04.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018394","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706677","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":352613,"name":"Male infertility due to NANOS1 mutation","status":"inactive"}],"preferential_parent":{"orpha":98047,"name":"Rare infertility"},"parents":[{"orpha":399786,"name":"Male infertility with spermatogenesis disorder due to single gene mutation","classifications":[156,201]}],"children":[{"orpha":529970,"name":"Male infertility due to acephalic spermatozoa","type":"Clinical subtype"},{"orpha":171709,"name":"Male infertility due to globozoospermia","type":"Clinical subtype"},{"orpha":137893,"name":"Male infertility due to large-headed multiflagellar polyploid spermatozoa","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":171709,"name":"Male infertility due to globozoospermia"}},{"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"],"via":{"orpha":137893,"name":"Male infertility due to large-headed multiflagellar polyploid spermatozoa"}},{"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"],"via":{"orpha":137893,"name":"Male infertility due to large-headed multiflagellar polyploid spermatozoa"}},{"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"],"via":{"orpha":137893,"name":"Male infertility due to large-headed multiflagellar polyploid spermatozoa"}},{"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"],"via":{"orpha":171709,"name":"Male infertility due to globozoospermia"}},{"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"],"via":{"orpha":171709,"name":"Male infertility due to globozoospermia"}},{"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"],"via":{"orpha":137893,"name":"Male infertility due to large-headed multiflagellar polyploid spermatozoa"}},{"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"],"via":{"orpha":137893,"name":"Male infertility due to large-headed multiflagellar polyploid spermatozoa"}},{"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"],"via":{"orpha":137893,"name":"Male infertility due to large-headed multiflagellar polyploid spermatozoa"}},{"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"],"via":{"orpha":137893,"name":"Male infertility due to large-headed multiflagellar polyploid spermatozoa"}},{"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"],"via":{"orpha":171709,"name":"Male infertility due to globozoospermia"}},{"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"],"via":{"orpha":171709,"name":"Male infertility due to globozoospermia"}},{"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"],"via":{"orpha":137893,"name":"Male infertility due to large-headed multiflagellar polyploid spermatozoa"}},{"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"],"via":{"orpha":171709,"name":"Male infertility due to globozoospermia"}},{"symbol":"PMFBP1","name":"polyamine modulated factor 1 binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30032984[PMID]","hgnc":"17728","ensembl":"ENSG00000118557","omim":"618085","loci":["16q22.2"],"via":{"orpha":529970,"name":"Male infertility due to acephalic spermatozoa"}},{"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"],"via":{"orpha":171709,"name":"Male infertility due to globozoospermia"}},{"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"],"via":{"orpha":171709,"name":"Male infertility due to globozoospermia"}},{"symbol":"SUN5","name":"Sad1 and UNC84 domain containing 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27640305[PMID]","hgnc":"16252","ensembl":"ENSG00000167098","omim":"613942","loci":["20q11.21"],"via":{"orpha":529970,"name":"Male infertility due to acephalic spermatozoa"}},{"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"],"via":{"orpha":171709,"name":"Male infertility due to globozoospermia"}}],"inheritance":[],"onset":["Adolescent","Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-01-06","source":"23315541[PMID]_21397063[PMID]_15533374[PMID]_21397064[PMID]_22653751[PMID]_16062000[PMID]_11726589[PMID]_21733974[PMID]_15533374[PMID]_6357995[PMID]_6380341[PMID]_17847006[PMID]_9207595[PMID]_17847006[PMID]_15533374[PMID]_9207595[PMID]_3338587[PMID]_15533374[PMID]_21397064[PMID]_23315541[PMID]_6380341[PMID]_4383[PMID]","terms":[{"hpo":"HP:0012864","label":"Abnormal sperm morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008669","label":"Abnormal spermatogenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012205","label":"Globozoospermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011961","label":"Non-obstructive azoospermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000118","label":"Phenotypic abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012868","label":"Sperm tail anomaly","frequency":"Very frequent (99-80%)","criteria":null}]}}