{"orpha":250932,"name":"Autosomal dominant optic atrophy and peripheral neuropathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-250932/","orphanet_url":"https://www.orpha.net/en/disease/detail/250932","names":{"fr":{"name":"Atrophy optique autosomique dominante avec neuropathie périphérique","definition":"Forme rare d'atrophie optique autosomique dominante (ADOA) caractérisée par une perte visuelle progressive et isolée au cours de la première décennie de vie, une diminution des réflexes dans les membres inférieurs et une posture évocatrice d'une légère atteinte cérébelleuse."},"de":{"name":"Optikusatrophie und periphere Neuropathie, autosomal-dominant"},"es":{"name":"Atrofia óptica autosómica dominante y neuropatía periférica","definition":"Es una forma poco frecuente de atrofia óptica autosómica dominante (AOAD) caracterizada por una pérdida visual progresiva y aislada en la primera década de la vida, disminución de los reflejos en las extremidades inferiores y leve postura cerebelosa."},"it":{"name":"Atrofia ottica autosomica dominante con neuropatia periferica"},"nl":{"name":"Autosomaal dominante opticusatrofie en perifere neuropathie","synonyms":["Autosomaal dominante optische atrofie en perifere neuropathie"],"definition":"Een zeldzame vorm van autosomaal dominante opticusatrofie (ADOA), gekarakteriseerd door progressief en geïsoleerd functieverlies van het zicht in het eerste levensdecennium, verminderde reflexen in de onderste ledematen, en mild verstoorde cerebellaire regulatie van de houding."},"pt":{"name":"Atrofia óptica autossómica dominante e neuropatia periférica"},"pl":{"name":"Autosomalna dominująca atrofia nerwu wzrokowego z neuropatią obwodową"},"cs":{"name":"Autozomálně dominantní atrofie optiku a periferní neuropatie"},"uk":{"name":"Аутосомно-домінантна атрофія зорового нерва та периферична нейропатія","definition":"A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance."},"zh":{"name":"常染色体显性遗传性视神经萎缩与周围神经病变","definition":"常染色体显性遗传的视神经萎缩（ADOA）的一种罕见形式，其特征是在十岁内出现的进行性和孤立性的视力丧失，下肢反射减弱，轻度小脑步态。"},"tr":{"name":"Otozomal dominant optik atrofi ve periferik nöropati"}},"xrefs":[{"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":"0016646","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273829","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98672,"name":"Autosomal dominant optic atrophy","classifications":[150,156,189]},{"orpha":254822,"name":"Mitochondrial oxidative phosphorylation disorder with no known mechanism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[],"phenotypes":null}