{"orpha":98890,"name":"Early-onset X-linked optic atrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OPA2","Optic atrophy type 2","Non-Leber type optic atrophy with early-onset"],"definition":"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98890/","orphanet_url":"https://www.orpha.net/en/disease/detail/98890","names":{"fr":{"name":"Atrophie optique précoce liée à l'X","synonyms":["Atrophie optique précoce de type non-Leber","Atrophie optique type 2","OPA2"],"definition":"L'atrophie optique précoce liée à l'X est une forme rare d'atrophie optique héréditaire, retrouvée jusqu'à présent que chez 4 familles. Elle survient au cours de la petite enfance et est caractérisée par une perte progressive de l'acuité visuelle, une pâleur marquée du nerf optique, et parfois des signes neurologiques additionnels. Les femmes ne sont pas affectées."},"de":{"name":"Optikusatrophie, X-chromosomale, mit frühem Beginn","synonyms":["OPA2","Optikusatrophie (nicht Typ Leber) mit frühem Beginn","Optikusatrophie Typ 2"]},"es":{"name":"Atrofia óptica ligada al cromosoma X de inicio precoz","synonyms":["Atrofia óptica tipo 2","Atrofia óptica tipo no-Leber de inicio precoz","OPA2"],"definition":"La atrofia óptica ligada al X de aparición temprana es una forma poco frecuente de la atrofia óptica hereditaria, descrita en tan sólo cuatro familias hasta la fecha, con una aparición en la primera infancia, caracterizada por una pérdida progresiva de la agudeza visual, palidez significativa del nervio óptico y a veces manifestaciones neurológicas adicionales, sin que las mujeres estén afectadas."},"it":{"name":"Atrofia ottica isolata legata all'X a esordio precoce","synonyms":["Atrofia ottica a esordio precoce, tipo non-Leber","Atrofia ottica, tipo 2","OPA2"],"definition":"L'atrofia ottica legata all'X a esordio precoce è una forma rara di atrofia ottica ereditaria, diagnosticata fino ad oggi solo in 4 famiglie, che esordisce nella prima infanzia, ed è caratterizzata da perdita progressiva dell'acuità visiva, significativo pallore del nervo ottico e, raramente, da altri segni neurologici. Le femmine non sono affette dalla malattia."},"nl":{"name":"X-gebonden opticusatrofie met vroege aanvang","synonyms":["Niet-Leber-type opticusatrofie met vroege aanvang","OPA2","Opticusatrofie type 2"],"definition":"X-gebonden geïsoleerde optische atrofie met vroege aanvang is een zeldzame vorm van erfelijke optische atrofie die tot op heden in slechts 4 families werd waargenomen. De ziekte vangt aan in de vroege kindertijd en wordt gekarakteriseerd door een progressief verlies van gezichtsscherpte (visus), significante bleekheid van de gezichtszenuw en soms bijkomende neurologische manifestaties. Vrouwen worden niet getroffen."},"pt":{"name":"Atrofia óptica ligada ao X de início precoce","synonyms":["Atrofia óptica tipo 2","OPA2"]},"pl":{"name":"Izolowany zanik nerwu wzrokowego o wczesnym początku sprzężony z chromosomem X","synonyms":["OPA2","Zanik nerwu wzrokowego typu 2"]},"cs":{"name":"X-vázaná izolovaná atrofie optiku s časným nástupem","synonyms":["OPA2","Atrofie optiku, typ 2","Non-Leberův typ atrofie optiku s časným nástupem"]},"uk":{"name":"Рання Х-зчеплена атрофія зорового нерва","synonyms":["Атрофія зорового нерва не за типом Лебера з раннім початком","OPA2","Атрофія зорового нерва 2 типу"],"definition":"Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected."},"zh":{"name":"早发型X-连锁视神经萎缩","synonyms":["早发性非Leber型视神经萎缩"],"definition":"早发性X连锁视神经萎缩是一种罕见的遗传性视神经萎缩，至今仅见于4个家系，该病于儿童早期起病，其特征是进行性视力丧失，明显的视神经苍白，偶尔还会有其他的神经表现，尚未发现女性受影响。"},"tr":{"name":"Erken başlangıçlı X'e bağlı optik atrofi","synonyms":["OPA2","Optik atrofi tip 2","Erken başlangıçlı Leber tipi olmayan optik atrofi"]}},"xrefs":[{"source":"OMIM","code":"311050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H47.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010698","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839576","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10199","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"OPA2","name":"optic atrophy 2 (obscure)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"8141","ensembl":null,"omim":null,"loci":["Xp11.4-p11.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"16969871[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16969871[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-12","source":"16969871[PMID]_27169914[PMID]_123591[PMID]","terms":[{"hpo":"HP:0000603","label":"Central scotoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012638","label":"Abnormality of nervous system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012164","label":"Asterixis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null}]}}