{"orpha":1215,"name":"Autosomal dominant optic atrophy plus syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADOA+","DOA+","Optic atrophy-deafness-polyneuropathy-myopathy syndrome","Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome"],"definition":"A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1215/","orphanet_url":"https://www.orpha.net/en/disease/detail/1215","names":{"fr":{"name":"Atrophie optique autosomique dominante plus","synonyms":["ADOA+","AOD+","DOA+","Syndrome d'atrophie optique-surdité-polyneuropathie-myopathie"],"definition":"Maladie neuro-ophtalmologique rare associant une atrophie optique dominante typique à d'autres manifestations extra-oculaires, telles que surdité neurosensorielle, myopathie, ophtalmoplégie chronique progressive externe, ataxie et neuropathie périphérique. Plus rarement, d'autres manifestations sont associées à cette maladie, telles que la paraplégie spastique ou la sclérose en plaques."},"de":{"name":"Optikusatrophie plus-Syndrom, autosomal-dominantes","synonyms":["ADOA+","DOA+","Optikusatrophie-Taubheit-Polyneuropathie-Myopathie-Syndrom"],"definition":"Eine seltene neuro-ophthalmologische Erkrankung, bei der die typische Optikusatrophie mit anderen extraokulären Manifestationen wie sensorineurale Taubheit, Myopathie, chronisch progressive externe Ophthalmoplegie, Ataxie und periphere Neuropathie einhergeht. Seltener werden auch andere Manifestationen wie spastische Paraplegie oder Multiple-Sklerose-ähnliche Erkrankungen mit dieser Erkrankung in Verbindung gebracht."},"es":{"name":"Síndrome de atrofia óptica plus autosómica dominante","synonyms":["ADOA+","DOA+","Síndrome de atrofia óptica-hipoacusia-polineuropatía-miopatía","Síndrome de atrofia óptica-sordera-polineuropatía-miopatía"],"definition":"Es una enfermedad neurooftalmológica poco frecuente que asocia la atrofia óptica típica a manifestaciones extraoculares adicionales como sordera neurosensorial, miopatía, oftalmoplejía externa progresiva crónica, ataxia y neuropatía periférica. Excepcionalmente, esta entidad se ha asociado a manifestaciones como la paraplejia espástica o la enfermedad similar a la esclerosis múltiple."},"it":{"name":"Sindrome atrofia ottica autosomica dominante plus","synonyms":["ADOA+","Sindrome atrofia ottica-sordità-polineuropatia-miopatia","Atrofia ottica - sordità - polineuropatia - miopatia","DOA+"],"definition":"L'atrofia ottica autosomica dominante plus (ADAO plus) è una malattia neuro-oftalmologica rara, nella quale l'atrofia ottica classica si associa ad altri sintomi extraoculari che comprendono la sordità neurosensoriale, la miopatia, l'oftalmoplegia esterna progressiva cronica, l'atassia e la neuropatia periferica. Raramente, si associa alla paraplegia spastica e alla malattia simile alla sclerosi multipla."},"nl":{"name":"Autosomaal dominante opticusatrofie plus-syndroom","synonyms":["Opticusatrofie - doofheid - polyneuropathie - myopathie-syndroom","Opticusatrofie - gehoorverlies - polyneuropathie - myopathie-syndroom","ADOA+","DOA+"],"definition":"Een zeldzame neuro-oftalmologische aandoening, waarbij de typische opticusatrofie geassocieerd is met andere extra-oculaire manifestaties zoals sensorineurale doofheid, myopathie, chronische progressieve externe oftalmoplegie, ataxie en perifere neuropathie. In zeldzamere gevallen zijn ook andere manifestaties met deze aandoening geassocieerd, zoals spastische paraplegie en multipele sclerose-achtige ziekte."},"pt":{"name":"Síndrome de atrofia óptica plus autossómica dominante","synonyms":["Atrofia óptica-surdez-neuropatia"]},"pl":{"name":"Autosomalny dominujący zespół zaniku nerwu wzrokowego plus","synonyms":["Atrofia nerwu wzrokowego - głuchota- polineuropatia - miopatia","DOA+","Autosomalny dominujący zespół atrofii nerwu wzrokowego plus"]},"cs":{"name":"Autozomálně dominantní optická atrofie plus","synonyms":["DOA+","Syndrom zahrnující atrofii optiku, hluchotu, polyneuropatii a myopatii"]},"uk":{"name":"Синдром аутосомно-домінантної атрофії зорового нерва плюс","synonyms":["DOA+","Синдром атрофії зорового нерва-глухоти-полінейропатії-міопатії","Синдром атрофії зорового нерва - втрати слуху - полінейропатії - міопатії"],"definition":"A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness."},"zh":{"name":"常染色体显性遗传视神经萎缩加综合征","synonyms":["视神经萎缩-听力丧失-多发性神经病-肌病综合征"]},"tr":{"name":"Otozomal dominant optik atrofi plus sendrom","synonyms":["DOA +","Optik atrofi-sağırlık-polinöropati-miyopati sendromu","Optik atrofi-işitme kaybı-polinöropati-miyopati sendromu"]}},"xrefs":[{"source":"OMIM","code":"125250","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"165199","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616648","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H47.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C40.8","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1149710475"},{"source":"MONDO","code":"0014720","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3276549","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5243","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3212,"name":"Autosomal dominant optic atrophy and congenital deafness","status":"inactive"},{"type":"Moved to","orpha":3349,"name":"Treft-Sanborn-Carey syndrome","status":"inactive"},{"type":"Referred to","orpha":255117,"name":"OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness","status":"inactive"}],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":140456,"name":"Autosomal dominant hereditary axonal motor and sensory neuropathy","classifications":[156,181]},{"orpha":98672,"name":"Autosomal dominant optic atrophy","classifications":[150,156,189]},{"orpha":254807,"name":"Multiple mitochondrial DNA deletion syndrome","classifications":[150,156]}],"children":[],"genes":[{"symbol":"OPA1","name":"OPA1 mitochondrial dynamin like GTPase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18158317[PMID]_22776096[PMID]","hgnc":"8140","ensembl":"ENSG00000198836","omim":"605290","loci":["3q29"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"22197506[PMID]_22776096[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-04-12","source":"22197506[PMID]_24138050[PMID]","terms":[{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0020119","label":"Abnormal retinal nerve fiber layer morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004463","label":"Absent brainstem auditory responses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100285","label":"EMG: impaired neuromuscular transmission","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003325","label":"Limb-girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003737","label":"Mitochondrial myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000590","label":"Progressive external ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001133","label":"Constriction of peripheral visual field","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003444","label":"EMG: chronic denervation signs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007002","label":"Motor axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012511","label":"Temporal optic disc pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Very rare (<4-1%)","criteria":null}]}}