{"orpha":420728,"name":"Combined oxidative phosphorylation defect type 20","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD20"],"definition":"A rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-420728/","orphanet_url":"https://www.orpha.net/en/disease/detail/420728","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 20","synonyms":["COXPD20"],"definition":"Anomalie rare de la phosphorylation oxydative mitochondriale caractérisée par une combinaison variable de retard psychomoteur, d'hypotonie, de faiblesse musculaire, de convulsions, de microcéphalie, de cardiomyopathie et de légère dysmorphie faciale. Divers types d'anomalies structurelles du cerveau ont été rapportées. Les analyses biochimiques mettent généralement en évidence une diminution de l'activité des complexes mitochondriaux (principalement du complexe I)."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 20","synonyms":["COXPD20"]},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 20","synonyms":["COXPD20"],"definition":"Es un trastorno de la fosforilación oxidativa mitocondrial poco frecuente caracterizado por una combinación variable de retraso psicomotor, hipotonía, debilidad muscular, convulsiones, microcefalia, miocardiopatía y rasgos faciales dismórficos leves. También se han descrito diferentes tipos de anomalías estructurales cerebrales. Los estudios bioquímicos muestran típicamente una actividad disminuida de los complejos mitocondriales (principalmente del complejo I)."},"it":{"name":"Difetto combinato della fosforilazione ossidativa tipo 20","synonyms":["COXPD20"],"definition":"Il difetto combinato della fosforilazione ossidativa tipo 20 è un difetto raro della fosforilazione ossidativa mitocondriale, variabilmente caratterizzato da ritardo psicomotorio, ipotonia, debolezza muscolare, crisi epilettiche, microcefalia, cardiomiopatia e dismorfismi facciali sfumati. Può associarsi ad anomalie strutturali del cervello di vario tipo. Le analisi biochimiche di solito evidenziano una riduzione dell'attività dei complessi mitocondriali, in particolare del complesso I."},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 20","synonyms":["COXPD20","Gecombineerde oxidatieve fosforyleringdeficiëntie type 20"],"definition":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 20 is een zeldzame mitochondriale oxidatieve fosforylatiestoornis die gekarakteriseerd wordt door een variabele combinatie van psychomotorische achterstand, hypotonie, spierzwakte, insulten, microcefalie, cardiomyopathie en milde dysmorfe gelaatskenmerken. Er werden ook variabele types van structurele hersenanomalieën gerapporteerd. Biochemische studies tonen doorgaans een verminderde activiteit van mitochondriale complexen (voornamelijk complex I)."},"pt":{"name":"Défice combinado da fosforilação oxidativa tipo 20"},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 20","synonyms":["COXPD20"],"definition":"*Złożony defekt fosforylacji oksydacyjnej typu 20 jest rzadkim zaburzeniem mitochondrialnej fosforylacji oksydacyjnej. Charakteryzuje się kombinacją opóźnienia psychoruchowego, hipotonii, osłabienia mięśni, drgawek, małogłowia, kardiomiopatii i łagodnej dysmorfii twarzy. Opisywano również różne wady strukturalne mózgu. Badania biochemiczne zazwyczaj wykazują zmniejszoną aktywność kompleksów mitochondrialnych (głównie kompleksu I)."},"cs":{"name":"Kombinovaný deficit oxidativní fosforylace, typ 20","synonyms":["COXPD20"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 20","synonyms":["COXPD20"],"definition":"A rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I)."},"zh":{"name":"联合氧化磷酸化缺陷症20型","synonyms":["COXPD20"],"definition":"联合氧化磷酸化缺陷20型是一种罕见的线粒体氧化磷酸化异常疾病，其特征可包括下列表型的一种或多种：精神发育迟滞，肌张力低下，肌无力，癫痫发作，小头畸形，心肌病和轻度畸形的面部特征合。也有各种类型的结构性脑异常报道。生化检查通常显示线粒体复合物（主要是复合物I）的活性降低。"},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 20","synonyms":["COXPD20"]}},"xrefs":[{"source":"OMIM","code":"615917","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.23","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014397","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4014660","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"VARS2","name":"valyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24827421[PMID]_25058219[PMID]","hgnc":"21642","ensembl":"ENSG00000137411","omim":"612802","loci":["6p21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24958846[PMID]_25058219[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24958846[PMID]_25058219[PMID]"}],"phenotypes":null}