{"orpha":542585,"name":"Auditory neuropathy-optic atrophy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-542585/","orphanet_url":"https://www.orpha.net/en/disease/detail/542585","names":{"fr":{"name":"Syndrome de neuropathie auditive-atrophie optique","definition":"Maladie mitochondriale rare caractérisée par une neuropathie auditive bilatérale et une atrophie optique. Les patients manifestent une déficience auditive et visuelle au cours de la première ou de la deuxième décennie de vie, le développement psychomoteur étant normal. L'association avec une rétinite pigmentaire bilatérale a été rapportée."},"de":{"name":"Auditorische Neuropathie-Optikusatrophie-Syndrom","definition":"Eine seltene mitochondriale Erkrankung, die durch eine bilaterale auditorische Neuropathie und Optikusatrophie gekennzeichnet ist. Die Patienten zeigen im ersten oder zweiten Lebensjahrzehnt Hör- und Sehstörungen, während die psychomotorische Entwicklung normal verläuft. Es wurde über eine bilaterale Retinitis pigmentosa in Verbindung mit dieser Krankheit berichtet."},"es":{"name":"Síndrome de neuropatía auditiva-atrofia óptica","definition":"Es una enfermedad mitocondrial poco frecuente caracterizada por neuropatía auditiva bilateral y atrofia óptica. Los pacientes presentan discapacidad auditiva y visual en la primera o segunda década de la vida, mientras que el desarrollo psicomotor es normal. Se ha descrito la asociación con retinosis pigmentaria bilateral."},"it":{"name":"Sindrome neuropatia uditiva - atrofia ottica","definition":"Si tratta di una malattia mitocondriale rara, caratterizzata da neuropatia uditiva bilaterale e atrofia ottica. I pazienti presentano deficit uditivo e visivo nella prima o seconda decade di vita, mentre lo sviluppo psicomotorio è normale. Può associarsi a retinite pigmentosa bilaterale."},"nl":{"name":"Auditieve neuropathie - opticusatrofie-syndroom","definition":"Een zeldzame mitochondriale aandoening, gekarakteriseerd door bilaterale auditieve neuropathie en opticusatrofie. Patiënten present eren zich met gehoorverlies en verlies van gezichtsvermogen in het eerste of tweede levensdecennium, terwijl psychomotorische ontwikkeling normaal verloopt. Associatie van bilaterale retinitis pigmentosa werd ook reeds gerapporteerd."},"pt":{"name":"Síndrome de neuropatia auditiva-atrofia óptica"},"pl":{"name":"Zespół neuropatii słuchowej i atrofii nerwu wzrokowego"},"cs":{"name":"Syndrom zahrnující sluchovou neuropatii a optickou atrofii"},"uk":{"name":"Синдром слухової нейропатії - атрофії зорового нерва","definition":"A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association."},"zh":{"name":"听觉神经病变-视神经萎缩综合征","definition":"一种罕见的线粒体疾病，以双侧听觉神经病变和视神经萎缩为特征。患者在出生后的十岁或二十岁出现听力和视力障碍，而精神运动发育正常。有报道称，双侧色素性视网膜炎与此有关。"},"tr":{"name":"İşitsel nöropati-optik atrofi sendromu"}},"xrefs":[{"source":"OMIM","code":"617717","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C58.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0060582","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4521678","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309136,"name":"Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"FDXR","name":"ferredoxin reductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28965846[PMID]","hgnc":"3642","ensembl":"ENSG00000161513","omim":"103270","loci":["17q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"28965846[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28965846[PMID]"}],"phenotypes":null}