{"orpha":227976,"name":"Autosomal recessive optic atrophy, OPA7 type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-227976/","orphanet_url":"https://www.orpha.net/en/disease/detail/227976","names":{"fr":{"name":"Atrophie optique autosomique récessive type OPA7","definition":"Neuropathie optique héréditaire syndromique rare caractérisée par une déficience visuelle précoce, sévère et progressive, une pâleur du disque optique et un scotome central, associés de façon inconstante à une dyschromatopsie, une neuropathie auditive (par exemple, une perte auditive neurosensorielle progressive légère), une neuropathie axonale sensorimotrice et, occasionnellement, une cardiomyopathie hypertrophique modérée."},"de":{"name":"Optikusatrophie, autosomal-rezessive, Typ 7","synonyms":["OPA7"]},"es":{"name":"Atrofia óptica autosómica recesiva tipo OPA7","definition":"Es un trastorno neuropático óptico hereditario, sindrómico y poco frecuente caracterizado por un grave deterioro visual progresivo de aparición temprana, palidez del disco óptico y escotoma central, asociado de forma variable a discromatopsia, neuropatía auditiva (p. ej., leve pérdida auditiva neurosensorial progresiva), neuropatía axonal sensitivo-motora y, ocasionalmente, miocardiopatía hipertrófica moderada."},"it":{"name":"Atrofia ottica autosomica recessiva, tipo OPA7","definition":"È una neuropatia ottica ereditaria sindromica rara ad esordio precoce, caratterizzata da deficit visivo grave e progressivo, pallore del disco ottico e scotoma centrale, associati, in modo variabile, a discromatopsia, neuropatia uditiva (sordità neurosensoriale progressiva lieve), neuropatia assonale sentivo-motoria e, raramente, moderata cardiomiopatia ipertrofica."},"nl":{"name":"Autosomaal recessieve opticusatrofie, type OPA7","synonyms":["Autosomaal recessieve optische atrofie, type OPA7"],"definition":"Een zeldzame, syndromale, erfelijke opticusneuropathie die gekarakteriseerd wordt door vroeg aanvangende, ernstige, progressieve visuele beperking, bleekheid van de oogzenuwkop en centraal scotoom, variabel geassocieerd met dyschromatopsie, auditieve neuropathie (e.g. mild progressief sensorineuraal gehoorverlies), motorische en sensorische axonale neuropathie en, occasioneel, matige hypertrofische cardiomyopathie."},"pt":{"name":"Atrofia óptica autossómica recessiva, tipo OPA7"},"pl":{"name":"Autosomalny recesywny zanik nerwu wzrokowego, typ OPA7"},"cs":{"name":"Autozomálně recesivní atrofie optiku, typ OPA7"},"uk":{"name":"Аутосомно-рецесивна атрофія зорового нерва, тип OPA7","definition":"A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy."},"zh":{"name":"常染色体隐性遗传视神经萎缩OPA7型","definition":"一种罕见的、综合征性的遗传性视神经病变，其特征是早发的严重进行性视力损害、视盘苍白和中心暗点，与色觉障碍、听神经病（如轻度进行性感音神经性听觉丧失）、感觉运动性轴索神经病和偶尔发生的中度肥厚性心肌病相关。"},"tr":{"name":"Otozomal resesif optik atrofi, OPA7 tipi"}},"xrefs":[{"source":"OMIM","code":"612989","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H47.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C40.B1","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013069","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190807","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":254822,"name":"Mitochondrial oxidative phosphorylation disorder with no known mechanism","classifications":[150,156]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"TMEM126A","name":"transmembrane protein 126A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19327736[PMID]_22815638[PMID]","hgnc":"25382","ensembl":"ENSG00000171202","omim":"612988","loci":["11q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22815638[PMID]_20405026[PMID]_19327736[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"22815638[PMID]_20405026[PMID]_19327736[PMID]"}],"phenotypes":null}