{"orpha":90641,"name":"Mitochondrial non-syndromic sensorineural deafness","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Isolated mitochondrial neurosensory deafness","Isolated mitochondrial neurosensory hearing loss","Isolated mitochondrial sensorineural deafness","Isolated mitochondrial sensorineural hearing loss","Mitochondrial non-syndromic neurosensory deafness","Mitochondrial non-syndromic neurosensory hearing loss","Mitochondrial non-syndromic sensorineural hearing loss"],"definition":null,"note":"This disease is described under Rare non-syndromic genetic deafness","url":"https://raremap.alftech.space/d/ORPHA-90641/","orphanet_url":"https://www.orpha.net/en/disease/detail/90641","names":{"fr":{"name":"Surdité neurosensorielle non syndromique mitochondriale","synonyms":["Surdité de perception isolée mitochondriale","Surdité de perception non syndromique mitochondriale","Surdité neurosensorielle mitochondriale isolée"]},"de":{"name":"Mitochondriale nicht-syndromale Schwerhörigkeit","synonyms":["Hörverlust, isolierter neurosensorischer, mitochondrial bedingter","Mitochondriale isolierte sensorineurale Taubheit","Mitochondrialer isolierter neurosensorischer Hörverlust","Mitochondriale nicht-syndromale neurosensorische Taubheit","Mitochondriale nicht-syndromale sensorineurale Schwerhörigkeit","Isolierte mitochondriale sensorineurale Schwerhörigkeit"]},"es":{"name":"Sordera neurosensorial mitocondrial no sindrómica","synonyms":["Hipoacusia neurosensorial mitocondrial aislada","Hipoacusia neurosensorial mitocondrial no sindrómica","Sordera neurosensorial mitocondrial aislada","Sordera neurosensorial mitocondrial no sindrómica"]},"it":{"name":"Sordità neurosensoriale mitocondriale non sindromica","synonyms":["Sordità neurosensoriale mitocondriale isolata","Perdita dell'udito neurosensoriale mitocondriale isolata","Perdita dell'udito neurosensoriale mitocondriale non sindromica"]},"nl":{"name":"Mitochondriale niet-syndromale sensorineurale doofheid","synonyms":["Geïsoleerd mitochondriaal neurosensorisch gehoorverlies","Geïsoleerd mitochondriaal sensorineuraal gehoorverlies","Geïsoleerde mitochondriale neurosensorische doofheid","Geïsoleerde mitochondriale sensorineurale doofheid","Mitochondriaal niet-syndromaal neurosensorisch gehoorverlies","Mitochondriaal niet-syndromaal sensorineuraal gehoorverlies","Mitochondriale niet-syndromale neurosensorische doofheid"]},"pt":{"name":"Surdez neurossensorial não-sindromática rara mitocondrial","synonyms":["Perda auditiva neurossensorial isolada mitocondrial","Perda auditiva neurossensorial não-sindromática mitocondrial","Surdez neurossensorial isolada mitocondrial","Surdez neurossensorial não-sindromática mitocondrial"]},"pl":{"name":"Mitochondrialna niesyndromiczna głuchota czuciowo-nerwowa","synonyms":["Izolowana mitochondrialna głuchota czuciowo-nerwowa","Izolowana mitochondrialna głuchota nerwowo-czuciowa","Rzadka mitochondrialna niesyndromiczna głuchota czuciowo-nerwowa"]},"cs":{"name":"Mitochondriální nesyndromová senzorineurální hluchota","synonyms":["Izolovaná mitochondriální senzorineurální hluchota"]},"uk":{"name":"Рідкісна мітохондріальна несиндромальна сенсоневральна глухота","synonyms":["Ізольована мітохондріальна нейросенсорна глухота","Ізольована мітохондріальна нейросенсорна приглухуватість","Ізольована мітохондріальна сенсоневральна глухота","Ізольована мітохондріальна сенсоневральна приглухуватість","Мітохондріальна несиндромальна нейросенсорна глухота","Мітохондріальна несиндромальна нейросенсорна приглухуватість","Мітохондріальна несиндромна сенсоневральна приглухуватість"]},"zh":{"name":"线粒体非综合征性感音神经性聋","synonyms":["线粒体非综合征型感音神经性听觉丧失"]},"tr":{"name":"Mitokondriyal sendromik olmayan sensörinöral sağırlık","synonyms":["İzole mitokondriyal nörosensöriyel sağırlık","İzole mitokondriyal sensörinöral sağırlık","İzole mitokondriyal nörosensöriyel işitme kaybı","İzole mitokondriyal sensörinöral işitme kaybı","Mitokondriyal sendromik olmayan nörosensöriyel sağırlık","Mitokondriyal sendromik olmayan nörosensöriyel işitme kaybı","Mitokondriyal sendromik olmayan sensörinöral işitme kaybı"]}},"xrefs":[{"source":"OMIM","code":"221745","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"304400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"500008","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"580000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H90.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C73.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1622069410"},{"source":"MONDO","code":"0010779","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5780045","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":168609,"name":"Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure","status":"inactive"}],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":254776,"name":"Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA","classifications":[150,156]},{"orpha":87884,"name":"Rare non-syndromic genetic deafness","classifications":[156,200]}],"children":[],"genes":[{"symbol":"MT-ND4","name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"17723226[PMID]","hgnc":"7459","ensembl":"ENSG00000198886","omim":"516003","loci":["mitochondria"]},{"symbol":"MT-CO1","name":"mitochondrially encoded cytochrome c oxidase I","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]","hgnc":"7419","ensembl":"ENSG00000198804","omim":"516030","loci":["mitochondria"]},{"symbol":"MT-RNR1","name":"mitochondrially encoded 12S rRNA","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"7470","ensembl":"ENSG00000211459","omim":"561000","loci":["mitochondria"]},{"symbol":"MT-TH","name":"mitochondrially encoded tRNA-His (CAU/C)","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21931169[PMID]","hgnc":"7487","ensembl":"ENSG00000210176","omim":"590040","loci":["mitochondria"]},{"symbol":"MT-TS1","name":"mitochondrially encoded tRNA-Ser (UCN) 1","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"7497","ensembl":"ENSG00000210151","omim":"590080","loci":["mitochondria"]},{"symbol":"POU3F4","name":"POU class 3 homeobox 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19930154[PMID]","hgnc":"9217","ensembl":"ENSG00000196767","omim":"300039","loci":["Xq21.1"]},{"symbol":"TFB1M","name":"transcription factor B1, mitochondrial","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"23510774[PMID]","hgnc":"17037","ensembl":"ENSG00000029639","omim":"607033","loci":["6q25.3"]},{"symbol":"TRMU","name":"tRNA mitochondrial 2-thiouridylase","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"23510774[PMID]","hgnc":"25481","ensembl":"ENSG00000100416","omim":"610230","loci":["22q13.31"]}],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance"],"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}