{"orpha":67047,"name":"3-methylglutaconic aciduria type 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive optic atrophy plus syndrome","Autosomal recessive optic atrophy type 3","Costeff optic atrophy syndrome","Costeff syndrome","Infantile optic atrophy with chorea and spastic paraplegia","MGA3"],"definition":"3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-67047/","orphanet_url":"https://www.orpha.net/en/disease/detail/67047","names":{"fr":{"name":"Acidurie 3-méthylglutaconique type 3","synonyms":["AMG3","Atrophie optique de Costeff","Atrophie optique type 3 autosomique récessive","Syndrome d'atrophie optique-plus autosomique récessif","Syndrome de Costeff"],"definition":"L'acidurie 3-méthylglutaconique (3-AMG) de type 3 est une acidurie organique caractérisée par l'association d'une atrophie optique, d'une choréoathétose et d'une acidurie 3-méthylglutaconique."},"de":{"name":"3-Methylglutaconazidurie Typ 3","synonyms":["Costeff-Syndrom","MGA 3","Optikusatrophie plus-Syndrom, autosomal-rezessives","Optikusatrophie, autosomal-rezessive, Typ 3","Optikusatrophie, infantile, mit Chorea und spastischer Paraplegie","Optikusatrophie-Syndrom Typ Costeff"],"definition":"Die 3-Methylglutacon-Azidurie (3-MGA) Typ III (3-MGA III) ist eine Organoazidurie mit Optikusatrophie, Choreoathetose und vermehrter Ausscheidung von 3-Methyl-Glutaconsäure im Urin."},"es":{"name":"Aciduria 3-metilglutacónica tipo 3","synonyms":["Atrofia óptica autosómica recesiva tipo 3","Atrofia óptica infantil con corea y paraplejía espástica","MGA 3","Síndrome de Costeff","Síndrome de atrofia óptica de Costeff","Síndrome de atrofia óptica plus autosómica recesiva"],"definition":"La aciduria 3-metilglutacónica de tipo III (MGA III) es una aciduria orgánica caracterizada por la asociación de atrofia óptica y coreoatetosis en presencia de una aciduria 3-metilglutacónica."},"it":{"name":"Aciduria 3-metilglutaconica, tipo 3","synonyms":["Atrofia ottica autosomica recessiva, tipo 3","Atrofia ottica infantile con corea e paraplegia spastica","MGA 3","MGA3","Sindrome atrofia ottica plus, autosomica recessiva","Sindrome da atrofia ottica di Costeff","Sindrome di Costeff"]},"nl":{"name":"3-methylglutaconacidurie type 3","synonyms":["MGA3","Opticusatrofiesyndroom van Costeff","Syndroom van Costeff","Autosomaal recessieve opticusatrofie type 3","Autosomaal recessieve opticusatrofie-plus-syndroom","Infantiele opticusatrofie met chorea en spastische paraplegie"],"definition":"Een organische acidurie, gekenmerkt door de associatie van opticusatrofie en choreoathetose met 3-methylglutaconacidurie (3-MGA)."},"pt":{"name":"Acidúria 3-metilglutacónica tipo 3","synonyms":["Atrofia óptica autossómica recessiva tipo 3","Atrofia óptica infantil com coreia e paraplegia espástica","MGA3","Síndrome Costeff","Síndrome de atrofia óptica Costeff","Síndrome de atrofia ótica plus autossómica recessiva"]},"pl":{"name":"Kwasica 3-metyloglutakonowa typu 3","synonyms":["Autosomal recessive optic atrophy plus syndromeAutosomalny recesywny zespół zaniku nerwu wzrokowego plus","Autosomalny recesywny zanik nerwu wzrokowego typu 3","Dziecięcy zanik nerwu wzrokowego z pląsawicą i paraplegią spastyczną","MGA3","Zespół Costeffa","Zespół zaniku nerwu wzrokowego Costeffa"]},"cs":{"name":"3-methylglutakonová acidurie, typ 3","synonyms":["Syndrom Costeffovy atrofie optiku","Infantilní atrofie optiku s choreou a spastickou paraplegií","MGA3","Syndrom autozomálně recesivní atrofie optiku plus","Autozomálně recesivní atrofie optiku, typ 3","Costeffův syndrom"]},"uk":{"name":"3-метилглутаконова ацидурія, тип 3","synonyms":["Синдром аутосомно-рецесивної атрофії зорового нерва плюс","Аутосомно-рецесивна атрофія зорового нерва, тип 3","Синдром атрофії зорового нерва Костеффа","Синдром Костеффа","Дитяча атрофія зорового нерва з хореєю та спастичною параплегією","MGA3"],"definition":"3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria."},"zh":{"name":"3-甲基戊二酸尿症3型","synonyms":["小儿视神经萎缩伴舞蹈症和痉挛性截瘫"]},"tr":{"name":"3-metilglutakonik asidüri tip 3","synonyms":["MGA3","Costeff sendromu","Costeff optik atrofi sendromu","Otozomal Çekinik optik atrofi tip 3","Otozomal Çekinik optik atrofi artı sendromu","Kore ve spastik paraplejili infantil optik atrofi"]}},"xrefs":[{"source":"OMIM","code":"258501","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"535412248"},{"source":"MONDO","code":"0009787","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535311","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0574084","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5663","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":289902,"name":"3-methylglutaconic aciduria","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"MICOS13","name":"mitochondrial contact site and cristae organizing system subunit 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27485409[PMID]","hgnc":"33702","ensembl":"ENSG00000174917","omim":"616658","loci":["19p13.3"]},{"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":"20301646[PMID]","hgnc":"8142","ensembl":"ENSG00000125741","omim":"606580","loci":["19q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003535","label":"3-Methylglutaconic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null}]}}