{"orpha":99901,"name":"Acyl-CoA dehydrogenase 9 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ACAD9 deficiency"],"definition":"A rare disorder characterized by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99901/","orphanet_url":"https://www.orpha.net/en/disease/detail/99901","names":{"fr":{"name":"Déficit en acyl-CoA déshydrogénase 9","synonyms":["Déficit en ACAD9"],"definition":"Le déficit en acyl-CoA déshydrogénase 9 (ACAD9) est une maladie rare qui induit un déficit du complexe I de la chaîne respiratoire. Il se caractérise par une dysfonction neurologique, une insuffisance hépatique et une cardiomyopathie."},"de":{"name":"Acyl-CoA-Dehydrogenase 9-Mangel","definition":"Der Acyl-CoA-Dehydrogenase 9 (ACAD9)-Mangel ist ein seltener Mangel des Komplex I in der Atmungskette. Charakteristisch sind neurologische Funktionsstörungen, Leberversagen und Kardiomyopathie."},"es":{"name":"Deficiencia de acil-CoA deshidrogenasa 9","definition":"Es una enfermedad poco frecuente caracterizada por disfunción neurológica, insuficiencia hepática y miocardiopatía debida a una deficiencia del complejo I de la cadena respiratoria."},"it":{"name":"Deficit di acil-CoA deidrogenasi, tipo 9","definition":"Il deficit di acil-CoA deidrogenasi 9 (ACAD9) è un difetto raro che causa un deficit del complesso I della catena respiratoria ed è caratterizzato da disfunzione neurologica, insufficienza epatica e cardiomiopatia."},"nl":{"name":"Acyl-CoA-dehydrogenase 9-deficiëntie","synonyms":["ACAD9-deficiëntie"],"definition":"Een zeldzame aandoening, gekarakteriseerd door neurologische disfunctie, leverfalen en cardiomyopathie als gevolg van een deficiëntie van complex I van de ademhalingsketen."},"pt":{"name":"Deficiência de acil-CoA desidrogenase 9"},"pl":{"name":"Niedobór dehydrogenazy 9 acyl-CoA","synonyms":["ACAD9 deficiency"]},"cs":{"name":"Deficit dehydrogenázy acyl-CoA 9","synonyms":["ACAD9 deficit"]},"uk":{"name":"Дефіцит ацил-КоА-дегідрогенази 9","synonyms":["Дефіцит ACAD9"],"definition":"A rare disorder characterized by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain."},"zh":{"name":"家族性乙酰辅酶脱氢酶9型缺乏","synonyms":["ACAD9 缺陷"],"definition":"酰辅酶A脱氢酶9缺乏症是一种罕见的疾病，以神经功能障碍、肝功能衰竭和心肌病为特征，病因是呼吸链的复合体I缺乏。"},"tr":{"name":"Açil-CoA dehidrogenaz 9 eksikliği","synonyms":["ACAD9 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"611126","qualifier":"E","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},{"source":"MONDO","code":"0012624","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567006","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970173","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081518","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254843,"name":"Exercise intolerance with lactic acidosis","classifications":[150,156]},{"orpha":217616,"name":"Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":217591,"name":"Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ACAD9","name":"acyl-CoA dehydrogenase family member 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17564966[PMID]","hgnc":"21497","ensembl":"ENSG00000177646","omim":"611103","loci":["3q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"24158852[PMID]_26669660[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26669660[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-01-24","source":"25721401[PMID]_22499348[PMID]_21057504[PMID]_17564966[PMID]_27233227[PMID]","terms":[{"hpo":"HP:0011923","label":"Decreased activity of mitochondrial complex I","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003234","label":"Decreased circulating carnitine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008331","label":"Elevated creatine kinase after exercise","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045045","label":"Elevated plasma acylcarnitine levels","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003473","label":"Fatigable weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006554","label":"Acute hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011695","label":"Cerebellar hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002181","label":"Cerebral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003215","label":"Dicarboxylic aciduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001958","label":"Nonketotic hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null}]}}