{"orpha":139512,"name":"Neuropathy with hearing impairment","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139512/","orphanet_url":"https://www.orpha.net/en/disease/detail/139512","names":{"fr":{"name":"Neuropathie avec trouble de l'audition","definition":"La neuropathie avec troubles de l'audition est caractérisée par l'association d'une surdité neurosensorielle avec une neuropathie périphérique."},"de":{"name":"Neuropathie mit Schwerhörigkeit","definition":"Dieses Syndrom ist gekennzeichnet durch Schallempfindungs-Schwerhörigkeit und periphere Neuropathie."},"es":{"name":"Neuropatía con discapacidad auditiva","definition":"Este síndrome se caracteriza por la asociación de un deterioro auditivo neurosensorial y neuropatía periférica."},"it":{"name":"Neuropatia con deficit uditivo"},"nl":{"name":"Neuropathie met gehoorverlies","definition":"Een syndroom, gekenmerkt door de associatie van sensorineuraal gehoorverlies en perifere neuropathie."},"pt":{"name":"Neuropatia com diminuição da acuidade auditiva","definition":"Esta síndrome é caracterizada por associação de surdez neurossensorial e neuropatia periférica."},"pl":{"name":"Neuropatia z upośledzeniem słuchu"},"cs":{"name":"Neuropatie s poruchou sluchu"},"uk":{"name":"Невропатія з порушенням слуху","definition":"This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy."},"zh":{"name":"伴有听力障碍的神经病变","definition":"该综合征的特征与感音神经性听力损伤和周围神经病变相关。"},"tr":{"name":"İşitme engelliliği ile seyreden nöropati"}},"xrefs":[{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"129297527"},{"source":"MONDO","code":"0015351","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509933","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19919","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140453,"name":"Autosomal dominant hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"GJB3","name":"gap junction protein beta 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11309368[PMID]","hgnc":"4285","ensembl":"ENSG00000188910","omim":"603324","loci":["1p34.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"11309368[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11309368[PMID]"}],"phenotypes":null}