{"orpha":1646,"name":"Chromosome Y microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Male infertility due to chromosome Y microdeletion","Microdeletion of the AZF region on the Y chromosome"],"definition":"A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1646/","orphanet_url":"https://www.orpha.net/en/disease/detail/1646","names":{"fr":{"name":"Syndrome de microdélétion du chromosome y","synonyms":["Microdélétion de la région AZF du chromosome Y","Stérilité masculine par microdélétion du chromosome Y"],"definition":"Infertilité masculine rare d'origine génétique caractérisée par une azoospermie ou une oligozoospermie due à une microdélétion du chromosome Y."},"de":{"name":"Chromosom Y-Mikrodeletion","synonyms":["Mikrodeletion der AZF-Region des Y-Chromosoms","Männliche Sterilität durch Chromosom Y-Mikrodeletion"],"definition":"Eine genetisch bedingte männliche Infertilität, die durch Azoospermie oder Oligozoospermie aufgrund einer Mikrodeletion des Chromosoms Y gekennzeichnet ist."},"es":{"name":"Síndrome de microdeleción del cromosoma Y","synonyms":["Infertilidad masculina por microdeleción del cromosoma Y","Microdeleción de la región AZF del cromosoma Y"],"definition":"Es una forma de infertilidad masculina de origen genético caracterizada por azoospermia u oligozoospermia debido a una microdeleción en el cromosoma Y."},"it":{"name":"Microdelezione parziale del cromosoma Y","synonyms":["Sterilità maschile da delezione del cromosoma Y","Microdelezione della regione AZF sul cromosoma Y","Sterilità maschile da delezione del cromosoma Y","MIcrodelezione della regione AZF sul cromosoma Y","Sterilità maschile da microdelezione del cromosoma Y"]},"nl":{"name":"Chromosoom Y-microdeletiesyndroom","synonyms":["Mannelijke onvruchtbaarheid door chromosoom Y-microdeletie","Microdeletie van de AZF-regio van Y-chromosoom"],"definition":"Een genetische mannelijke infertiliteit, gekenmerkt door azoöspermie of oligozoöspermie door microdeletie van Y-chromosoom."},"pt":{"name":"Síndrome de microdeleção do cromossoma Y","synonyms":["Esterilidade masculina por microdeleção do cromossoma Y","Microdeleção da região AZF do cromossoma Y"],"definition":"Infertilidade masculina genética caracterizada por azoospermia ou oligozoospermia devido à microdeleção do cromossoma Y."},"pl":{"name":"Zespół mikrodelecji chromosomu Y","synonyms":["Męska bezpłodność spowodowana delecją chromosomu Y","Mikrodelecja chromosomu Y"]},"cs":{"name":"Částečná delece chromozomu Y","synonyms":["Mužská sterilita způsobená delecí chromozomu Y"]},"uk":{"name":"Мікроделеція хромосоми Y","synonyms":["Чоловіче безпліддя внаслідок мікроделеції хромосоми Y","Мікроделеція ділянки AZF на Y-хромосомі"],"definition":"A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion."},"zh":{"name":"部分Y染色体缺失","synonyms":["Y染色体缺失所致男性不育症"]},"tr":{"name":"Y kromozomu kısmi delesyonu","synonyms":["Y kromozomunun delesyonuna bağlı erkek kısırlığı"]}},"xrefs":[{"source":"OMIM","code":"400042","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"415000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q98.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A81.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"355552409"},{"source":"MONDO","code":"0015607","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536297","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5924994","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98047,"name":"Rare infertility"},"parents":[{"orpha":98158,"name":"Chromosome Y structural anomaly syndrome","classifications":[147,156]},{"orpha":399775,"name":"Male infertility with spermatogenesis disorder","classifications":[156,201]}],"children":[],"genes":[{"symbol":"DAZ1","name":"deleted in azoospermia 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20671934[PMID]_11870237[PMID]","hgnc":"2682","ensembl":"ENSG00000188120","omim":"400003","loci":["Yq11.223"]},{"symbol":"DAZ2","name":"deleted in azoospermia 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20671934[PMID]_11870237[PMID]","hgnc":"15964","ensembl":"ENSG00000205944","omim":"400026","loci":["Yq11.223"]},{"symbol":"DAZ3","name":"deleted in azoospermia 3","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20671934[PMID]_14639527[PMID]","hgnc":"15965","ensembl":"ENSG00000187191","omim":"400027","loci":["Yq11.23"]},{"symbol":"DAZ4","name":"deleted in azoospermia 4","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20671934[PMID]_14639527[PMID]","hgnc":"15966","ensembl":"ENSG00000205916","omim":"400048","loci":["Yq11.23"]},{"symbol":"DDX3Y","name":"DEAD-box helicase 3 Y-linked","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"22537385[PMID]_10767340[PMID]_20671934[PMID]_20301513[PMID]","hgnc":"2699","ensembl":"ENSG00000067048","omim":"400010","loci":["Yq11.221"]},{"symbol":"RBMY1A1","name":"RNA binding motif protein Y-linked family 1 member A1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"12525536[PMID]_20671934[PMID]","hgnc":"9912","ensembl":"ENSG00000234414","omim":"400006","loci":["Yq11.223"]},{"symbol":"TSPY1","name":"testis specific protein Y-linked 1","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"23307928[PMID]","hgnc":"12381","ensembl":"ENSG00000258992","omim":"480100","loci":["Yp11.2"]},{"symbol":"AZF1","name":"azoospermia factor 1","gene_type":"Disorder-associated locus","association":"Role in the phenotype of","status":"Assessed","source":"19246359[PMID]","hgnc":"908","ensembl":null,"omim":null,"loci":["Yq11"]},{"symbol":"USP9Y","name":"ubiquitin specific peptidase 9 Y-linked","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301513[PMID]_10581029[PMID]_22537385[PMID]_20671934[PMID]","hgnc":"12633","ensembl":"ENSG00000114374","omim":"400005","loci":["Yq11.221"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Y-linked"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.8,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301513[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-16","source":"33214080[PMID]_19246359[PMID]_19602516[PMID]_18782837[PMID]_18807255[PMID]_16720375[PMID]_11687796[PMID]_10523011[PMID]_10523003[PMID]_17213277[PMID]","terms":[{"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:0003251","label":"Male infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011961","label":"Non-obstructive azoospermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null}]}}