{"orpha":98673,"name":"Autosomal dominant optic atrophy, classic form","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant optic atrophy, Kjer type","Kjer optic atrophy","Optic atrophy type 1"],"definition":"A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98673/","orphanet_url":"https://www.orpha.net/en/disease/detail/98673","names":{"fr":{"name":"Atrophie optique autosomique dominante classique","synonyms":["Atrophie optique autosomique dominante de Kjer","Atrophie optique dominante de type 1","Maladie de Kjer"],"definition":"Maladie neuro-ophtalmologique rare qui est l'une des formes les plus courantes de neuropathie optique héréditaire caractérisée par une perte visuelle bilatérale progressive avec un début au cours de la première décennie de la vie, associée à une pâleur du disque optique, une baisse d'acuité visuelle, une altération du champ visuel et de la vision des couleurs."},"de":{"name":"Optikusatrophie, autosomal-dominante, klassische Form","synonyms":["Autosomal-dominante Optikusatrophie Typ Kjer","Optikusatrophie Typ 1","Optikusatrophie Typ Kjer"],"definition":"Eine seltene neuro-ophthalmologische Erkrankung, die zu den häufigsten Formen der hereditären Optikusneuropathie gehört und durch einen fortschreitenden beidseitigen Sehverlust gekennzeichnet ist, der im ersten Lebensjahrzehnt einsetzt und mit einer Blässe des Sehnervenkopfes, einem Verlust der Sehschärfe, Gesichtsfeldausfällen und Farbsehstörungen einhergeht."},"es":{"name":"Atrofia óptica autosómica dominante tipo clásico","synonyms":["Atrofia óptica autosómica dominante tipo Kjer","Atrofia óptica de Kjer","Atrofia óptica tipo 1"],"definition":"Es una enfermedad neurooftalmológica poco frecuente que constituye una de las formas más comunes de neuropatía óptica hereditaria, y que está caracterizada por una pérdida visual progresiva bilateral de inicio en la primera década de la vida, asociada a palidez del disco óptico, pérdida de agudeza visual, déficits del campo visual y defectos de la visión del color."},"it":{"name":"Atrofia ottica autosomica dominante, forma classica","synonyms":["Atrofia ottica autosomica dominante, tipo Kjer","Atrofia ottica di Kjer","Atrofia ottica, tipo 1"],"definition":"L'atrofia ottica autosomica dominante (ADAO) è una malattia neuro-oftalmologica rara e una delle forme più comuni di neuropatia ottica ereditaria, caratterizzata dalla perdita progressiva della visione bilaterale che esordisce nella prima decade di vita, associata al pallore del disco ottico, perdita dell'acuità visiva e anomalie del campo visivo e della visione dei colori."},"nl":{"name":"Autosomaal dominante opticusatrofie, klassieke vorm","synonyms":["Autosomaal dominante opticusatrofie, Kjer-type","Opticusatrofie type 1","Opticusatrofie van Kjer"],"definition":"Een zeldzame neuro-oftalmologische aandoening en van de meest voorkomende vormen van hereditaire opticusneuropathie, gekarakteriseerd door progressief bilateraal verlies van gezichtsvermogen gedurende het eerste levensdecennium, geassocieerd met bleekheid van oogzenuwkop, verlies van visus, en defecten van gezichtsveld en kleurenzicht."},"pt":{"name":"Atrofia óptica autossómica dominante, forma clássica","synonyms":["Atrofia óptica tipo 1"]},"pl":{"name":"Autosomalny dominujący zanik nerwu wzrokowego, typ klasyczny","synonyms":["Autosomalny dominujący zanik nerwu wzrokowego, typ Kjera","Zanik nerwu wzrokowego Kjera","Zanik nerwu wzrokowego typu 1"]},"cs":{"name":"Autozomálně dominantní dědičná atrofie optiku, klasická forma","synonyms":["Kjerova atrofie optiku","Atrofie optiku, typ 1","Kjerova autozomálně dominantní atrofie optiku"]},"uk":{"name":"Аутосомно-домінантна атрофія зорового нерва, класична форма","synonyms":["Аутосомно-домінантна атрофія зорового нерва, тип Кьєра","Атрофія зорового нерва Кьєра","Атрофія зорового нерва 1 типу"],"definition":"A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects."},"zh":{"name":"常染色体显性遗传视神经萎缩经典型","synonyms":["Kjer型常染色体显性遗传视神经萎缩"],"definition":"该病是最常见的遗传性视神经病变之一，其特征是在十岁前出现进行性双眼视力丧失，并伴有视盘苍白、视野和色觉缺损。"},"tr":{"name":"Otozomal dominant optik atrofi, klasik form","synonyms":["Kjer optik atrofi","Optik atrofi tip 1","Otozomal dominant optik atrofi, Kjer tipi"]}},"xrefs":[{"source":"OMIM","code":"165500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605293","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610708","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618977","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":"1745857753"},{"source":"MONDO","code":"0008134","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0338508","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":"DNM1L","name":"dynamin 1 like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28969390[PMID]","hgnc":"2973","ensembl":"ENSG00000087470","omim":"603850","loci":["12p11.21"]},{"symbol":"OPA1","name":"OPA1 mitochondrial dynamin like GTPase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301426[PMID]","hgnc":"8140","ensembl":"ENSG00000198836","omim":"605290","loci":["3q29"]},{"symbol":"PPIB","name":"peptidylprolyl isomerase B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"41045073[PMID]","hgnc":"9255","ensembl":"ENSG00000166794","omim":"123841","loci":["15q22.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET_20301426[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Denmark","status":"Validated","source":"8689476[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.86,"area":"United Kingdom","status":"Validated","source":"20417570[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":83.33,"area":"Specific population","status":"Validated","source":"21745197[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-05","source":"30165240[PMID]_11535456[PMID]","terms":[{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030515","label":"Moderately reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025514","label":"Morning glory anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012511","label":"Temporal optic disc pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000603","label":"Central scotoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002518","label":"Abnormal periventricular white matter morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007366","label":"Atrophy/Degeneration affecting the brainstem","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002135","label":"Basal ganglia calcification","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007371","label":"Corpus callosum atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009921","label":"Duane anomaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001972","label":"Macrocytic anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Very rare (<4-1%)","criteria":null}]}}