{"orpha":399805,"name":"Male infertility with azoospermia or oligozoospermia due to single gene mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic male infertility due to a sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-399805/","orphanet_url":"https://www.orpha.net/en/disease/detail/399805","names":{"fr":{"name":"Infertilité masculine monogénique avec azoospermie ou oligozoospermie","definition":"Infertilité masculine génétique rare due à une anomalie du sperme. Elle se caractérise par l'absence de taux mesurable de spermatozoïdes dans l'éjaculat (azoospermie) ou par un nombre de spermatozoïdes inférieur à 15 millions/mL dans l'éjaculat (oligozoospermie). Elle est due à une mutation monogénique connue pour causer une azoospermie ou une oligozoospermie. La morphologie spermatique peut être normale."},"de":{"name":"Männliche Infertilität mit Azoospermie oder Oligozoospermie durch Mutation eines einzelnen Gens","definition":"Eine seltene, genetisch bedingte männliche Unfruchtbarkeit aufgrund einer Spermienstörung, die durch das Fehlen einer messbaren Menge von Spermien im Ejakulat (Azoospermie) oder einer Spermienzahl im Ejakulat von weniger als 15 Millionen/ml (Oligozoospermie) gekennzeichnet ist und auf einer Mutation in einem einzelnen Gen beruht, von dem bekannt ist, dass es Azoo- oder Oligospermie verursacht. Die Morphologie der Spermien kann normal sein."},"es":{"name":"Infertilidad masculina con azoospermia o oligozoospermia por una única mutación genética","definition":"Es un trastorno poco frecuente de infertilidad masculinade origen genético debido a un defecto espermático. Está caracterizado por la ausencia de una cantidad medible de espermatozoides en el eyaculado (azoospermia) o una cantidad de espermatozoides en el eyaculado inferior a 15 millones/ml (oligozoospermia), como resultado de una mutación en un único gen que se sabe que causa azoo- u oligo-espermia. Morfológicamente, el esperma puede ser normal."},"it":{"name":"Sterilità maschile con azoospermia od oligospermia da mutazione di un singolo gene","definition":"La sterilità maschile con azoospermia od oligospermia da mutazione di un singolo gene è un'anomalia dello sperma rara di origine genetica, caratterizzata dall'assenza di una quantità misurabile di spermatozoi nell'eiaculato (azoospermia) o da un numero di spermatozoi nell'eiaculato inferiore a 15 milioni/mL (oligozoospermia), causati da una mutazione genica ritenuta responsabile dell'azoospermia o dell'oligospermia. La morfologia dello sperma è normale."},"nl":{"name":"Mannelijke onvruchtbaarheid met azoöspermie of oligospermie als gevolg van een enkele genmutatie","definition":"Een zeldzame, genetische mannelijke onvruchtbaarheid door een aandoening van sperma, gekenmerkt door de afwezigheid van een meetbare hoeveelheid spermatozoa in ejaculaat (azoöspermie), of minder dan 15 miljoen/ml spermacellen in ejaculaat (oligozoöspermie), als gevolg van een mutatie in één enkel gen waarvan geweten is dat ze azoö- of oligozoöspermie veroorzaakt. Morfologie van sperma kan normaal zijn."},"pt":{"name":"Infertilidade masculina com azoospermia ou oligozoospermia por mutação num único gene"},"pl":{"name":"Niepłodność męska z azoospermią lub oligospermią z powodu mutacji pojedyńczego genu"},"cs":{"name":"Mužská neplodnost s azoospermií nebo oligospermií způsobená mutací v jednom genu","synonyms":["Monogenní mužská neplodnost s azoospermií nebo oligospermií"]},"uk":{"name":"Чоловіче безпліддя з азооспермією або олігозооспермією внаслідок мутації одного гена","definition":"A rare, genetic male infertility due to a sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal."},"zh":{"name":"男性不育伴单基因突变所致无精子症或少精子症","definition":"男性不育伴单基因突变所致无精症或少精症是一种罕见的遗传性男性不育，其特征是精液中没有可测量数量的精子(无精症)，或者射精液中的精子数量低于1500万/mL(少精症)，这是由于已知导致无精子或少精子症的单个基因的突变所导致的。在这种情况下，男性不育是一种罕见的遗传性男性不育，其特征是精液中没有可测量的精子数量(无精子症)，或者射精液中精子数量低于1500万/mL(少精子症)，这是由于已知导致无精子或少精子症的单一基因突变所致。精子形态可能正常。"},"tr":{"name":"Tek gen mutasyonuna bağlı azospermi veya oligozoospermi ile seyreden erkek infertilitesi"}},"xrefs":[{"source":"OMIM","code":"108420","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"258150","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"270960","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"301077","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"301106","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"301137","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"305700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"309120","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613957","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615081","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615413","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615841","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615842","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616950","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617706","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617707","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617960","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618086","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618091","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618110","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618115","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619108","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619202","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619379","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619380","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619515","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619528","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619585","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619645","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619646","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619672","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619673","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619689","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619696","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619712","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619799","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619803","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619805","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619826","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619828","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619831","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619867","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619878","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619937","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619949","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620084","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620103","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620170","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620196","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620222","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N46","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB04.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018393","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681165","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8530","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved 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1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23315541[PMID]","hgnc":"23044","ensembl":"ENSG00000188613","omim":"608226","loci":["10q26.11"]},{"symbol":"NR5A1","name":"nuclear receptor subfamily 5 group A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20887963[PMID]","hgnc":"7983","ensembl":"ENSG00000136931","omim":"184757","loci":["9q33.3"]},{"symbol":"PDHA2","name":"pyruvate dehydrogenase E1 subunit alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29581481[PMID]","hgnc":"8807","ensembl":"ENSG00000163114","omim":"179061","loci":["4q22.3"]},{"symbol":"PNLDC1","name":"PARN like ribonuclease domain containing exonuclease 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34347949[PMID]","hgnc":"21185","ensembl":"ENSG00000146453","omim":"619529","loci":["6q25.3"]},{"symbol":"RBBP7","name":"RB binding protein 7, chromatin remodeling factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35809576[PMID]_37843278[PMID]","hgnc":"9890","ensembl":null,"omim":null,"loci":["Xp22.2"]},{"symbol":"RNF212","name":"ring finger protein 212","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31125047[PMID]","hgnc":"27729","ensembl":"ENSG00000178222","omim":"612041","loci":["4p16.3"]},{"symbol":"SHOC1","name":"shortage in chiasmata 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32741963[PMID]","hgnc":"26535","ensembl":"ENSG00000165181","omim":"618038","loci":["9q31.3"]},{"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":"SPINK2","name":"serine peptidase inhibitor Kazal type 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28554943[PMID]","hgnc":"11245","ensembl":"ENSG00000128040","omim":"605753","loci":["4q12"]},{"symbol":"STAG3","name":"STAG3 cohesin complex component","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31125047[PMID]_31682730[PMID]","hgnc":"11356","ensembl":"ENSG00000066923","omim":"608489","loci":["7q22.1"]},{"symbol":"SYCE1","name":"synaptonemal complex central element protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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in","status":"Assessed","source":"32741963[PMID]","hgnc":"26675","ensembl":"ENSG00000249961","omim":"617332","loci":["16q22.1"]},{"symbol":"TERB2","name":"telomere repeat binding bouquet formation protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33211200[PMID]","hgnc":"28520","ensembl":"ENSG00000167014","omim":"617131","loci":["15q21.1"]},{"symbol":"TEX14","name":"testis expressed 14, intercellular bridge forming factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29790874[PMID]","hgnc":"11737","ensembl":"ENSG00000121101","omim":"605792","loci":["17q22"]},{"symbol":"TEX15","name":"testis expressed 15, meiosis and synapsis associated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29048736[PMID]","hgnc":"11738","ensembl":"ENSG00000133863","omim":"605795","loci":["8p12"]},{"symbol":"XRCC2","name":"X-ray repair cross complementing 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30042186[PMID]","hgnc":"12829","ensembl":"ENSG00000196584","omim":"600375","loci":["7q36.1"]},{"symbol":"ZMYND15","name":"zinc finger MYND-type containing 15","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24431330[PMID]","hgnc":"20997","ensembl":"ENSG00000141497","omim":"614312","loci":["17p13.2"]},{"symbol":"ZSWIM7","name":"zinc finger SWIM-type containing 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32719396[PMID]_33713115[PMID]","hgnc":"26993","ensembl":"ENSG00000214941","omim":"614535","loci":["17p12"]},{"symbol":"CFTR","name":"CF transmembrane conductance regulator","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22709980[PMID]","hgnc":"1884","ensembl":"ENSG00000001626","omim":"602421","loci":["7q31.2"]},{"symbol":"SOHLH1","name":"spermatogenesis and oogenesis specific basic helix-loop-helix 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"20506135[PMID]","hgnc":"27845","ensembl":"ENSG00000165643","omim":"610224","loci":["9q34.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Adolescent","Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-01-11","source":"19535795[PMID]_22335740[PMID]_23349759[PMID]_14573733[PMID]_12788881[PMID]_18596921[PMID]_18834967[PMID]_17034399[PMID]_9371856[PMID]_17761590[PMID]_26194704[PMID]","terms":[{"hpo":"HP:0008669","label":"Abnormal spermatogenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","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:0011962","label":"Obstructive azoospermia","frequency":"Frequent (79-30%)","criteria":null}]}}