{"orpha":67036,"name":"Autosomal dominant optic atrophy and cataract","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant optic atrophy type 3","OPA3, autosomal dominant"],"definition":"A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the <i>OPA3</i> gene (19q13.32).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-67036/","orphanet_url":"https://www.orpha.net/en/disease/detail/67036","names":{"fr":{"name":"Syndrome d'atrophie optique-cataracte autosomique dominante","synonyms":["Atrophie optique type 3 autosomique dominante","OPA3, autosomique dominante"],"definition":"Une forme d'atrophie optique autosomique dominante caractérisée par une atrophie optique bilatérale précoce conduisant à une perte insidieuse de la vision de sévérité variable, suivie par le développement d'une cataracte corticale tardive antérieure et/ou postérieure. Les manifestations additionnelles incluent une surdité neurosensorielle et des signes neurologiques tels que des tremblements, une rigidité extrapyramidale et l'absence de réflexes tendineux profonds. Elle est causée par des mutations du gène <i>OPA3</i> (19q13.32)."},"de":{"name":"Optikusatrophie und Katarakt, autosomal-dominante Form","synonyms":["OPA3, autosomal-dominante","Optikusatrophie, autosomal-dominante, Typ 3"],"definition":"Die autosomal-dominante Optikusatrophie und Katarakt (ADOAC) ist eine Form der autosomal-dominanten Optikusatrophie (ADOA; s. dort), die durch eine frühzeitige und bilaterale Optikusatrophie gekennzeichnet ist. Sie führt zu einem Visusverlust mit variablem Schweregrad, gefolgt von einem späten anterioren und/oder posterioren kortikalen Katarakt. Weitere Merkmale sind sensorineuraler Hörverlust und neurologische Symptome wie Tremor, extrapyramidale Steifigkeit und das Fehlen tiefer Sehnenreflexe. ADOAC wird durch Mutationen im <i>OPA3</i> (19q13.32) verursacht."},"es":{"name":"Atrofia óptica autosómica dominante y catarata","synonyms":["Atrofia óptica autosómica dominante tipo 3","OPA3 autosómica dominante"],"definition":"Es una forma de atrofia óptica autosómica dominante (AOAD) caracterizada por atrofia óptica bilateral temprana que conduce a una pérdida visual de intensidad variable, seguida por una catarata cortical posterior y/o anterior tardía. Otros hallazgos adicionales incluyen pérdida de audición neurosensorial y signos neurológicos como temblor, rigidez extrapiramidal y ausencia de reflejos tendinosos profundos. Esta enfermedad está causada por mutaciones en el gen <i>OPA3</i> (19q13.32)."},"it":{"name":"Atrofia ottica e cataratta, autosomica dominante","synonyms":["Atrofia ottica autosomica dominante, tipo 3","OPA3, autosomica dominante"],"definition":"L'atrofia ottica con cataratta autosomica dominante (ADOAC) è una forma di atrofia ottica autosomica dominante (ADOA; si veda questo termine), caratterizzata da atrofia ottica bilaterale e precoce che esita in un'insidiosa perdita della vista di gravità variabile, seguita dalla cataratta corticale anteriore e/o posteriore tardiva. Altri sintomi clinici comprendono la sordità neurosensoriale e segni neurologici come il tremore, la rigidità extrapiramidale e l'assenza di riflessi tendinei profondi. L'ADOAC è causata dalle mutazioni nel gene OPA3 (19q13.32)."},"nl":{"name":"Autosomaal dominante opticusatrofie en cataract","synonyms":["Autosomaal dominante atrofie van oogzenuw en cataract","Autosomaal dominante opticusatrofie type 3","OPA3, autosomaal dominant"],"definition":"Een vorm van autosomaal dominante opticusatrofie (ADOA), gekarakteriseerd door een vroege en bilaterale opticusatrofie die leidt tot geleidelijk functieverlies van het zicht met variabele ernst, gevolgd door een laat anterieur en/of posterieur corticaal cataract. Bijkomende kenmerken zijn onder meer sensorineuraal gehoorverlies en neurologische tekenen zoals tremor, extrapiramidale rigiditeit en afwezigheid van diepe peesreflexen. ADOAC wordt veroorzaakt door mutaties in het gen <i>OPA3</i> (19q13.32)."},"pt":{"name":"Atrofia óptica autossómica dominante e catarata"},"pl":{"name":"Autosomalna dominująca atrofia nerwu wzrokowego i zaćma","synonyms":["Autosomalna dominująca atrofia nerwu wzrokowego typu 3","OPA3, autosomalna dominująca"]},"cs":{"name":"Autozomálně dominantní atrofie optiku s kataraktou","synonyms":["Autozomálně dominantní atrofie optiku, typ 3","OPA3, autozomálně dominantní"]},"uk":{"name":"Аутосомно-домінантна атрофія зорового нерва та катаракта","synonyms":["Аутосомно-домінантна атрофія зорового нерва, тип 3","OPA3, аутосомно-домінантний"],"definition":"A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the <i>OPA3</i> gene (19q13.32)."},"zh":{"name":"常染色体显性视神经萎缩伴白内障","synonyms":["常染色体显性遗传性视神经萎缩3型"]},"tr":{"name":"Otozomal dominant optik atrofi ve katarakt","synonyms":["OPA3, otozomal dominant","Otozomal dominant optik atrofi tip 3"]}},"xrefs":[{"source":"OMIM","code":"165300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H47.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C40.8","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1789029893"},{"source":"MONDO","code":"0008133","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537128","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833809","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10203","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]}],"children":[],"genes":[{"symbol":"OPA3","name":"outer mitochondrial membrane lipid metabolism regulator OPA3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15342707[PMID]","hgnc":"8142","ensembl":"ENSG00000125741","omim":"606580","loci":["19q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"22797356[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22797356[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-14","source":"15342707[PMID]_15924081[PMID]_22797356[PMID]","terms":[{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002522","label":"Areflexia of lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000603","label":"Central scotoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010924","label":"Posterior cortical cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007795","label":"Anterior cortical cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010923","label":"Anterior subcapsular cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007976","label":"Cerulean cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009468","label":"Deviation of the 2nd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010522","label":"Dyslexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007076","label":"Extrapyramidal muscular rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001377","label":"Limited elbow extension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006248","label":"Limited wrist movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002403","label":"Positive Romberg sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007787","label":"Posterior subcapsular cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000642","label":"Red-green dyschromatopsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000552","label":"Tritanomaly","frequency":"Occasional (29-5%)","criteria":null}]}}