{"orpha":90625,"name":"X-linked non-syndromic genetic deafness","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["X-linked non-syndromic sensorineural deafness","X-linked non-syndromic sensorineural hearing loss","Non-syndromic genetic DFNX","X-linked isolated neurosensory deafness","X-linked isolated neurosensory hearing loss","X-linked isolated sensorineural deafness","X-linked isolated sensorineural hearing loss","X-linked non-syndromic genetic hearing loss","X-linked non-syndromic neurosensory deafness","X-linked non-syndromic neurosensory hearing loss"],"definition":null,"note":"This disease is described under Rare non-syndromic genetic deafness","url":"https://raremap.alftech.space/d/ORPHA-90625/","orphanet_url":"https://www.orpha.net/en/disease/detail/90625","names":{"fr":{"name":"Surdité génétique non syndromique liée au chromosome X","synonyms":["Surdité de perception isolée liée au chromosome X","Surdité de perception non syndromique liée au chromosome X","Surdité neurosensorielle isolée liée au chromosome X"]},"de":{"name":"X-chromosomale nicht-syndromale Schwerhörigkeit","synonyms":["X-chromosomale isolierte sensorineurale Taubheit","Hörverlust, isolierter neurosensorischer, X-chromosomaler","X-chromosomale nicht-syndromale neurosensorische Taubheit","X-chromosomale nicht-syndromale sensorineurale Schwerhörigkeit","Hörverlust, nicht-syndromaler, Typ DFNX","X-chromosomaler isolierter neurosensorischer Hörverlust"]},"es":{"name":"Sordera genética no sindrómica ligada al cromosoma X","synonyms":["Hipoacusia genética no sindrómica ligada al cromosoma X","Sordera neurosensorial no sindrómica ligada al cromosoma X","DFNX genética no sindrómica","Hipoacusia neurosensorial aislada ligada al cromosoma X","Sordera neurosensorial aislada ligada al cromosoma X","Hipoacusia neurosensorial no sindrómica ligada al cromosoma X"]},"it":{"name":"Sordità genetica non sidromica legata all'X","synonyms":["Perdita dell'udito neurosensoriale non sindromica legata all'X","'Sordità neurosensoriale isolata legata all'X, tipo DFN'","'Sordità neurosensoriale non sindromica legata all'X, tipo DFN'","DFNX genetica non sindromica","Perdita dell'udito neurosensoriale non sindromica legata all'X, tipo DFN","Sordità neurosensoriale isolata legata all'X","Perdita dell'udito neurosensoriale isolata legata all'X","Perdita dell'udito genetica non sindromica legata all'X","Sordità neurosensoriale non sindromica legata all'X"]},"nl":{"name":"X-gebonden niet-syndromale genetische doofheid","synonyms":["Niet-syndromale genetische DFNX","X-gebonden niet-syndromale sensorineurale doofheid","X-gebonden niet-syndromaal sensorineuraal hgehoorverlies","X-gebonden geïsoleerde neurosensorische doofheid","X-gebonden geïsoleerd neurosensorisch gehoorverlies","X-gebonden geïsoleerde sensorineurale doofheid","X-gebonden geïsoleerd sensorineuraal gehoorverlies","X-gebonden niet-syndromaal genetisch gehoorverlies","X-gebonden niet-syndromale neurosensorische doofheid","X-gebonden niet-syndromaal neurosensorisch gehoorverlies"]},"pt":{"name":"Surdez neurossensorial não-sindromática rara ligada ao X tipo DFN","synonyms":["Perda auditiva neurossensorial isolada ligada ao X tipo DFN","Perda auditiva neurossensorial não-sindromática ligada ao X tipo DFN","Surdez neurossensorial isolada ligada ao X tipo DFN","Surdez neurossensorial não-sindromática ligada ao X tipo DFN"]},"pl":{"name":"Niesyndromiczna głuchota czuciowo-nerwowa typu DFN sprzężona z chromosomem X","synonyms":["Izolowana głuchota czuciowo-nerwowa typu DFN sprzężona z chromosomem X","Izolowana głuchota nerwowo-czuciowa typu DFN sprzężona z chromosomem X","Izolowana utrata słuchu czuciowo-nerwowa typu DFN sprzężona z chromosomem X","Izolowana utrata słuchu nerwowo-czuciowa typu DFN sprzężona z chromosomem X","Niesyndromiczna głuchota nerwowo-czuciowa typu DFN sprzężona z chromosomem X","Niesyndromiczna nerwowo-czuciowa utrata słuchu typu DFN sprzężona z chromosomem X","Niesyndromiczna utrata słuchu czuciowo-nerwowa typu DFN sprzężona z chromosomem X","Rzadka związana z chromosomem X niesyndromiczna głuchota czuciowo-nerwowa typu DFN"]},"cs":{"name":"X-vázaná nesyndromová senzorineurální hluchota (zkratka DFNX)","synonyms":["X-vázaná izolovaná senzorineurální hluchota","X-vázaná izolovaná senzorineurální ztráta sluchu","X-vázaná izolovaná senzorineurální hluchota, typ DFN","X-vázaná izolovaná senzorineurální ztráta sluchu, typ DFN","X-vázaná nesyndromická senzorineurální hluchota, typ DFN","X-vázaná nesyndromická senzorineurální ztráta sluchu, typ DFN"]},"uk":{"name":"Рідкісна несиндромальна сенсоневральна глухота, зчеплена з Х-хромосомою, тип DFN","synonyms":["Х-зчеплена ізольована нейросенсорна глухота типу DFN","Х-зчеплена ізольована нейросенсорна приглухуватість типу DFN","Х-зчеплена ізольована сенсоневральна глухота типу DFN","Х-зчеплена ізольована сенсоневральна приглухуватість типу DFN","Х-зчеплена несиндромальна нейросенсорна глухота типу DFN","Х-зчеплена несиндромальна нейросенсорна приглухуватість типу DFN","Х-зчеплена несиндромальна сенсоневральна приглухуватість типу DFN"]},"zh":{"name":"X-连锁非综合征型感音神经性耳聋DFN型","synonyms":["X-连锁非综合征型感音神经性听觉丧失DFN型"]},"tr":{"name":"X'e bağlı sendromik olmayan sensörinöral sağırlık tipi DFN","synonyms":["X'e bağlı izole nörosensoriyel sağırlık tip DFN","X'e bağlı izole sensörinöral sağırlık tip DFN","X'e bağlı izole nörosensör işitme kaybı tip DFN","X'e bağlı izole sensörinöral işitme kaybı tip DFN","X'e bağlı sendromik olmayan nörosensör sağırlık tip DFN","X'e bağlı sendromik olmayan nörosensör işitme kaybı tip DFN","X'e bağlı sendromik olmayan sensörinöral işitme kaybı tip DFN"]}},"xrefs":[{"source":"OMIM","code":"300030","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300066","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300914","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"304500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H90.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"AB50","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0019586","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680192","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":383,"name":"X-linked mixed deafness with perilymphatic gusher","status":"inactive"}],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":87884,"name":"Rare non-syndromic genetic deafness","classifications":[156,200]}],"children":[],"genes":[{"symbol":"COL4A6","name":"collagen type IV alpha 6 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23714752[PMID]","hgnc":"2208","ensembl":"ENSG00000197565","omim":"303631","loci":["Xq22.3"]},{"symbol":"PRPS1","name":"phosphoribosyl pyrophosphate synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"9462","ensembl":"ENSG00000147224","omim":"311850","loci":["Xq22.3"]},{"symbol":"SMPX","name":"small muscle protein X-linked","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"11122","ensembl":"ENSG00000091482","omim":"300226","loci":["Xp22.12"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}