{"orpha":67048,"name":"3-methylglutaconic aciduria type 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MGA4"],"definition":"3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-67048/","orphanet_url":"https://www.orpha.net/en/disease/detail/67048","names":{"fr":{"name":"Acidurie 3-méthylglutaconique type 4","synonyms":["AGM4"],"definition":"L'acidurie 3-méthylglutaconique (3-AMG) de type IV, ou acidurie 3-méthylglutaconique 'inclassable'' est une affection cliniquement hétérogène caractérisée par une excrétion accrue d'acide 3-méthylglutaconique survenant chez des individus ne présentant pas l'un des autres types d'acidurie 3-méthylglutaconique (3-AMG de type I, II ou III)."},"de":{"name":"3-Methylglutaconazidurie Typ 4","synonyms":["MGA 4"],"definition":"Die 3-Methylglutacon-Azidurie (3-MGA) Typ IV oder unklassifizierte 3-MGA ist eine klinisch heterogene Krankheit mit vermehrter Ausscheidung von 3-Methyl-Glutaconsäure bei Patienten, die nicht einer der anderen Formen der 3-MGA (3-MGA I, II oder III) zugeordnet werden können."},"es":{"name":"Aciduria 3-metilglutacónica tipo 4","synonyms":["MGA4"],"definition":"La aciduria 3-metilglutacónica (3 SMG) de tipo IV, o 3-MGA sin clasificar, es una enfermedad clínicamente heterogénea caracterizada por el aumento de la excreción de ácido 3-metilglutacónico en individuos que no pueden ser clasificados en ninguna de las otras formas de 3-MGA (3-MGA I, II o III)."},"it":{"name":"Aciduria 3-metilglutaconica, tipo 4","synonyms":["MGA 4"]},"nl":{"name":"3-methylglutaconacidurie type 4","synonyms":["MGA4"],"definition":"3-methylglutaconacidurie (3-MGA) type IV, of niet-geclassificeerde 3-MGA, is een klinisch heterogene aandoening, gekenmerkt door verhoogde excretie van 3-methylglutaconzuur bij individuen die niet kunnen geclassificeerd worden als lijdend aan een andere vorm van 3-MGA (3-MGA I, II of III)."},"pt":{"name":"Acidúria 3-metilglutacónica tipo 4","synonyms":["MGA 4"]},"pl":{"name":"Kwasica 3-metyloglutakonowa typu 4","synonyms":["MGA4"]},"cs":{"name":"3-methylglutakonová acidurie, typ 4","synonyms":["MGA4"]},"uk":{"name":"3-метилглутаконова ацидурія, тип 4","synonyms":["MGA4"],"definition":"3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III)."},"zh":{"name":"3-甲基戊二酸尿症4型","synonyms":["MGA4"]},"tr":{"name":"3-metilglutakonik asidüri tip 4","synonyms":["MGA4"]}},"xrefs":[{"source":"OMIM","code":"250951","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":"185382411"},{"source":"MONDO","code":"0009611","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565393","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855126","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10342","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":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"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:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002195","label":"Dysgenesis of the cerebellar vermis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}