{"orpha":94064,"name":"Deafness-infertility syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["DIS","Hearing loss-infertility syndrome"],"definition":"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94064/","orphanet_url":"https://www.orpha.net/en/disease/detail/94064","names":{"fr":{"name":"Syndrome de surdité-infertilité","definition":"Le syndrome de surdité-infertilité est un syndrome très rare associant une surdité neurosensorielle et une infertilité masculine."},"de":{"name":"Schwerhörigkeit-Infertilitäts-Syndrom","synonyms":["DIS"],"definition":"Das Schwerhörigkeit-Infertilität-Syndrom (DIS) ist sehr selten und gekennzeichnet durch Schwerhörigkeit und männliche Infertilität."},"es":{"name":"Síndrome de sordera e infertilidad","synonyms":["DIS","Síndrome de hipoacusia e infertilidad"],"definition":"El síndrome de sordera e infertilidad (DIS) es un síndrome muy raro que asocia sordera neurosensorial e infertilidad masculina."},"it":{"name":"Sindrome sordità-infertilità","synonyms":["DIS"],"definition":"La sindrome sordità-infertilità (DIS) è una sindrome molto rara che associa la sordità neurosensoriale all'infertilità nei maschi."},"nl":{"name":"Doofheid - infertiliteit-syndroom","synonyms":["DIS","Doofheid - onvruchtbaarheid-syndroom","Gehoorverlies - infertiliteit-syndroom"],"definition":"Een zeer zeldzaam syndroom dat sensorineurale doofheid en mannelijke onvruchtbaarheid associeert."},"pt":{"name":"Síndrome surdez-infertilidade"},"pl":{"name":"Zespół głuchota-bezpłodność","synonyms":["DIS"]},"cs":{"name":"Syndrom zahrnující hluchotu a neplodnost","synonyms":["DIS"]},"uk":{"name":"Синдром глухоти-безпліддя","synonyms":["DIS","Синдром втрати слуху-безпліддя"],"definition":"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility."},"zh":{"name":"耳聋-不育综合征","synonyms":["听力丧失-不育综合征"],"definition":"耳聋不育综合征（DIS）是一种罕见的与感音神经性听力障碍和男性不育相关的综合征。"},"tr":{"name":"Sağırlık kısırlık sendromu","synonyms":["DIS","İşitme kaybı-kısırlık sendromu"]}},"xrefs":[{"source":"OMIM","code":"611102","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1430704280"},{"source":"MONDO","code":"0012621","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567010","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970187","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11911","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":399813,"name":"Male infertility due to sperm motility disorder","classifications":[156,201]},{"orpha":262119,"name":"Partial deletion of the long arm of chromosome 15 syndrome","classifications":[147,156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"CATSPER2","name":"cation channel sperm associated 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"17098888[PMID]","hgnc":"18810","ensembl":"ENSG00000166762","omim":"607249","loci":["15q15.3"]},{"symbol":"STRC","name":"stereocilin","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"17098888[PMID]","hgnc":"16035","ensembl":"ENSG00000242866","omim":"606440","loci":["15q15.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"26011646[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26011646[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null}]}}