{"orpha":394532,"name":"Multiple acyl-CoA dehydrogenase deficiency, mild type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Glutaric aciduria type 2, mild type","MAD deficiency, mild type","MADD, mild type"],"definition":null,"note":"This disease is described under Multiple acyl-CoA dehydrogenase deficiency","url":"https://raremap.alftech.space/d/ORPHA-394532/","orphanet_url":"https://www.orpha.net/en/disease/detail/394532","names":{"fr":{"name":"Déficit multiple en acyl-CoA déshydrogénase, type modéré","synonyms":["Acidémie glutarique type 2, type modéré","Déficit en MAD, type modéré"]},"de":{"name":"Multipler Acyl-CoA-Dehydrogenase-Mangel, milder Typ"},"es":{"name":"Deficiencia múltiple de acil-CoA deshidrogenasa tipo leve","synonyms":["Aciduria glutárica tipo 2, tipo leve","Deficiencia de MAD tipo leve","MADD tipo leve"]},"it":{"name":"Deficit multiplo di acil-CoA deidrogenasi, tipo lieve"},"nl":{"name":"Meervoudige acyl-CoA-dehydrogenatiedeficiëntie, mild type"},"pt":{"name":"Deficiência de acil-CoA desidrogenase múltipla, tipo ligeiro","synonyms":["Acidúria glutárica tipo 2, tipo ligeiro","Deficiência de MAD, tipo ligeiro","MADD, tipo ligeiro"]},"pl":{"name":"Złożony Niedobór dehydrogenacji acetylo-CoA, typ łagodny","synonyms":["Glutaric aciduria type 2, mild type","MAD deficiency, mild type","MADD, mild type"]},"cs":{"name":"Deficit dehydrogenace mnohočetných acyl-CoA, mírný typ","synonyms":["Glutaric aciduria type 2, mild type","MAD deficiency, mild type","MADD, mild type"]},"uk":{"name":"Множинна недостатність ацил-КоА-дегідрогенази, легкий тип","synonyms":["Глутарова ацидурія 2 типу, легка форма","Дефіцит MAD, легкий тип","MADD, легкий тип"]},"zh":{"name":"轻型多重酰基辅酶A脱氢酶缺乏症","synonyms":["轻型戊二酸尿症2型"]},"tr":{"name":"Çoklu açil-KoA dehidrojenaz eksikliği, hafif tip","synonyms":["MADD, hafif tip","MAD eksikliği, hafif tip","Glutarik asidüri tip 2, hafif tip"]}},"xrefs":[{"source":"OMIM","code":"231680","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"255100","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.01","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018333","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680028","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":26791,"name":"Multiple acyl-CoA dehydrogenase deficiency","classifications":[146,150,156,181,233]}],"children":[],"genes":[{"symbol":"FLAD1","name":"flavin adenine dinucleotide synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28433476[PMID]","hgnc":"24671","ensembl":"ENSG00000160688","omim":"610595","loci":["1q21.3"]},{"symbol":"ETFA","name":"electron transfer flavoprotein subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3481","ensembl":"ENSG00000140374","omim":"608053","loci":["15q24.2-q24.3"]},{"symbol":"ETFB","name":"electron transfer flavoprotein subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3482","ensembl":"ENSG00000105379","omim":"130410","loci":["19q13.41"]},{"symbol":"ETFDH","name":"electron transfer flavoprotein dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3483","ensembl":"ENSG00000171503","omim":"231675","loci":["4q32.1"]},{"symbol":"SLC25A32","name":"solute carrier family 25 member 32","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28443623[PMID]_26933868[PMID]","hgnc":"29683","ensembl":"ENSG00000164933","omim":"138480","loci":["8q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}