{"orpha":505216,"name":"3-methylglutaconic aciduria type 9","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome","MGA9"],"definition":"A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-505216/","orphanet_url":"https://www.orpha.net/en/disease/detail/505216","names":{"fr":{"name":"Acidurie 3-méthylglutaconique type 9","synonyms":["AMG9","MGA9","Syndrome d'acidurie 3-méthylglutaconique-épilepsie-spasticité-déficience intellectuelle"],"definition":"Acidurie organique rare caractérisée par l'apparition précoce d'un retard de développement global avec une déficience intellectuelle sévère, des crises convulsives et une acidurie 3-méthylglutaconique. Les autres signes cliniques sont une hypotonie, une hyperactivité, un comportement agressif, une atrophie optique ou une spasticité. L'IRM peut révéler une atrophie cérébrale généralisée et des anomalies de la substance blanche."},"de":{"name":"3-Methylglutaconazidurie Typ 9","synonyms":["3-Methylglutaconazidurie-Epilepsie-Spastik-schwere Intelligenzminderung-Syndrom","MGA9"],"definition":"Eine seltene organische Azidurie, die durch eine früh einsetzende globale Entwicklungsverzögerung mit schwerer Intelligenzminderung, Krampfanfällen und 3-Methylglutaconsäureurie gekennzeichnet ist. Weitere Merkmale sind Hypotonie, Hyperaktivität und aggressives Verhalten, Optikusatrophie oder Spastizität. Die Bildgebung des Gehirns kann eine generalisierte zerebrale Atrophie und Anomalien der weißen Substanz zeigen."},"es":{"name":"Aciduria 3-metilglutacónica tipo 9","synonyms":["MGA9","Síndrome de aciduria 3-metilglutacónica-epilepsia-espasticidad-discapacidad intelectual grave"],"definition":"Es una aciduria orgánica poco frecuente caracterizada por un retraso global del desarrollo acompañado de discapacidad intelectual grave, crisis epilépticas y aciduria 3-metilglutacónica de inicio temprano. Otros hallazgos adicionales son hipotonía, hiperactividad y comportamiento agresivo, atrofia óptica o espasticidad. La neuroimagen puede mostrar una atrofia cerebral generalizada y anomalías de la sustancia blanca."},"it":{"name":"Aciduria 3-metilglutaconica tipo 9","definition":"Si tratta di un'aciduria organica rara, caratterizzata da ritardo dello sviluppo globale ad esordio precoce, disabilità intellettiva grave, crisi epilettiche e aciduria 3-metilglutaconica. I pazienti possono presentare anche ipotonia, iperattività, aggressività, atrofia ottica e spasticità. Le neuroimmagini mostrano atrofia cerebrale generalizzata e anomalie della sostanza bianca."},"nl":{"name":"3-methylglutaconacidurie type 9","synonyms":["3-methylglutaconacidurie - epilepsie - spasticiteit - ernstige intellectuele achterstand-syndroom","MGA9"],"definition":"Een zeldzame organische acidurie, gekarakteriseerd door vroege aanvang van algehele ontwikkelingsachterstand met ernstige intellectuele achterstand, insulten, en 3-methylglutaconacidurie. Bijkomende kenmerken zijn hypotonie, hyperactiviteit en agressief gedrag, opticusatrofie, of spasticiteit. Beeldvorming van hersenen toont mogelijk gegeneraliseerde cerebrale atrofie en afwijkingen van witte stof."},"pt":{"name":"Acidúria 3-metilglutacónica tipo 9"},"pl":{"name":"Kwasica 3-metyloglutakonowa typ 9","synonyms":["Zespół kwasicy 3-metyloglutakonowej, padaczki, spastyczności i znacznej niepełnosprawności intelektualnej"]},"cs":{"name":"3-metylglutakonová acidurie, typ 9","synonyms":["MGA9","Syndrom zahrnující 3-metylglutakonovou acidurii, epilepsii, spasticitu a těžkou mentální retardaci"]},"uk":{"name":"3-метилглутаконова ацидурія, тип 9","synonyms":["Синдром 3-метилглутаконової ацидурії - епілепсії - спастичності - тяжкої інтелектуальної недостатності","MGA9"],"definition":"A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities."},"zh":{"name":"3-甲基戊二酸尿症9型","synonyms":["3-甲基戊二酸尿症-癫痫-痉挛-严重智力障碍综合症"],"definition":"一种罕见的有机酸尿症，其特点是早期出现全面发育迟缓，并伴有严重的智力障碍、癫痫发作和3-甲基戊二酸尿症。其他特征为肌张力低下、多动和攻击性行为、视神经萎缩或痉挛。脑影像学检查可显示全身性脑萎缩和白质异常。"},"tr":{"name":"3-metilglutakonik asidüri tip 9","synonyms":["MGA9","3-metilglutakonik asidüri-epilepsi-spastisite-ağır zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"617698","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":"attributed","validated":true},{"source":"MONDO","code":"0044724","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4540171","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":289902,"name":"3-methylglutaconic aciduria","classifications":[150,156]},{"orpha":225689,"name":"Amino acid or protein metabolism disease with epilepsy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TIMM50","name":"translocase of inner mitochondrial membrane 50","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27573165[PMID]","hgnc":"23656","ensembl":"ENSG00000105197","omim":"607381","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"27573165[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27573165[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-24","source":"27573165[PMID]","terms":[{"hpo":"HP:0003535","label":"3-Methylglutaconic aciduria","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011925","label":"Decreased activity of mitochondrial ATP synthase complex","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007204","label":"Diffuse white matter abnormalities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001533","label":"Slender build","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null}]}}