{"orpha":35656,"name":"Coenzyme Q10 deficiency","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["CoQ10 deficiency","Primary coenzyme Q10 deficiency","Primary ubiquinone deficiency"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-35656/","orphanet_url":"https://www.orpha.net/en/disease/detail/35656","names":{"fr":{"name":"Déficit en coenzyme Q10","synonyms":["Déficit en CoQ10","Déficit primaire en coenzyme Q10","Déficit primaire en ubiquinone"]},"de":{"name":"Coenzym Q10-Mangel","synonyms":["CoQ10-Mangel","Primäre Coenzym-Q10 Defizienz","Primärer Ubichinon-Mangel"]},"es":{"name":"Deficiencia de coenzima Q10","synonyms":["Deficiencia de CoQ10","Deficiencia primaria de coenzima Q10","Deficiencia primaria de ubiquinona"]},"it":{"name":"Deficit del coenzima Q10","synonyms":["Deficit di CoQ10"]},"nl":{"name":"Deficiëntie van co-enzym Q10","synonyms":["CoQ10-deficiëntie","Primaire deficiëntie van co-enzym Q10","Primaire ubiquinondeficiëntie"]},"pt":{"name":"Deficiência de coenzima Q10","synonyms":["Deficiência de CoQ10","Deficiência de coenzima Q10 primária","Deficiência primária de ubiquinona"]},"pl":{"name":"Niedobór koenzymu Q 10","synonyms":["Niedobór CoQ10"]},"cs":{"name":"Deficit koenzymu Q10","synonyms":["Deficit CoQ10"]},"uk":{"name":"Дефіцит коензиму Q10","synonyms":["Дефіцит CoQ10"]},"zh":{"name":"辅酶Q10缺乏症","synonyms":["CoQ10缺乏"]},"tr":{"name":"Koenzim Q10 eksikliği","synonyms":["CoQ10 eksikliği"]}},"xrefs":[{"source":"ICD-11","code":"5C53.22","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1251664337"},{"source":"MONDO","code":"0018151","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18151","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564403","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843920","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10423","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":225700,"name":"Mitochondrial disease with epilepsy","classifications":[156,181]},{"orpha":225703,"name":"Mitochondrial disease with peripheral neuropathy","classifications":[156,181]},{"orpha":2443,"name":"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[{"orpha":139485,"name":"Autosomal recessive ataxia due to ubiquinone deficiency","type":"Disease"},{"orpha":658778,"name":"COQ7-related distal hereditary motor neuropathy","type":"Disease"},{"orpha":254898,"name":"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome","type":"Disease"},{"orpha":319678,"name":"Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome","type":"Disease"},{"orpha":280406,"name":"Familial steroid-resistant nephrotic syndrome with sensorineural deafness","type":"Disease"},{"orpha":457185,"name":"Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}