{"orpha":477774,"name":"Combined oxidative phosphorylation defect type 27","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD27"],"definition":"A rare mitochondrial oxidative phosphorylation disorder characterized by a variable clinical phenotype including infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder, and liver involvement, as well as childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment, and progressive tetraparesis. Serum lactate may be increased, and brain imaging shows variable atrophy and white matter abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-477774/","orphanet_url":"https://www.orpha.net/en/disease/detail/477774","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 27","synonyms":["COXPD27"],"definition":"Anomalie de la phosphorylation oxydative mitochondriale caractérisée par un phénotype clinique variable comprenant d'une part : encéphalopathie épileptique, hypotonie, retard global de développement, retard staturo-pondéral, troubles du mouvement complexe et atteinte hépatique débutant dans la petite enfance, et d'autre part : épilepsie myoclonique sévère, déclin cognitif et déficience auditive/visuelle et tétraparésie progressives, débutant dans l'enfance. Le taux de lactate sérique peut être augmenté. L'imagerie cérébrale met en évidence une atrophie de degré variable et des anomalies de la substance blanche."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 27","synonyms":["COXPD27"],"definition":"Eine seltene mitochondriale Störung der oxidativen Phosphorylierung, die durch einen variablen klinischen Phänotyp gekennzeichnet ist, der epileptische Enzephalopathie im Kindesalter, Hypotonie, globale Entwicklungsverzögerung, Gedeihstörung, komplexe Bewegungsstörungen und Leberbeteiligung sowie schwere Myoklonus-Epilepsie im Kindesalter, kognitiven Verfall, fortschreitende Hör- und Sehstörungen und progressive Tetraparese umfasst. Das Serumlaktat kann erhöht sein, und die Bildgebung des Gehirns zeigt eine variable Atrophie und Anomalien der weißen Substanz."},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 27","synonyms":["COXPD27"],"definition":"Es un trastorno poco frecuente de la fosforilación oxidativa mitocondrial caracterizado por un fenotipo clínico variable que incluye el inicio en la lactancia de encefalopatía epiléptica, hipotonía, retraso global del desarrollo, fallo de medro, trastorno del movimiento complejo y afectación hepática, así como la aparición en la infancia de epilepsia mioclónica grave, deterioro cognitivo, discapacidad auditiva y visual progresiva y tetraparesia progresiva. El lactato sérico puede estar aumentado y la neuroimagen muestra atrofia variable y anomalías de la sustancia blanca."},"it":{"name":"Difetto combinato della fosforilazione ossidativa tipo 27","definition":"Si tratta di un difetto raro della fosforilazione ossidativa mitocondriale, caratterizzato da un fenotipo clinico variabile che comprende l'encefalopatia epilettica ad esordio infantile, l'ipotonia, il ritardo dello sviluppo globale e della crescita, le anomalie dei movimenti complessi, l'interessamento epatico, l'epilessia mioclonica grave ad esordio infantile, il declino cognitivo, la compromissione progressiva dell'udito e della vista, e la tetraparesi progressiva. I livelli di lattato nel siero possono essere elevati. Le neuroimmagini evidenziano un'atrofia cerebrale variabile e anomalie della sostanza bianca."},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 27","synonyms":["COXPD27","Gecombineerde oxidatieve fosforyleringdeficiëntie type 27"],"definition":"Een zeldzame mitochondriale oxidatieve fosforylatiestoornis, gekarakteriseerd door een variabel klinisch fenotype met onder meer infantiele aanvang van epileptische encefalopathie, hypotonie, algehele ontwikkelingsachterstand, niet-gedijen, complexe bewegingsstoornis, en betrokkenheid van lever, alsook aanvang in de kindertijd van ernstige myoclonusepilepsie, cognitieve aftakeling, progressief verlies van gehoor- en gezichtsvermogen, en progressieve tetraparese. Het lactaatgehalte in serum is mogelijk verhoogd, en beeldvorming van hersenen toont variabele atrofie en afwijkingen van witte stof."},"pt":{"name":"Défice combinado da fosforilação oxidativa tipo 27"},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 27","synonyms":["COXPD27"]},"cs":{"name":"Kombinovaný defekt oxidativní fosforylace, typ 27","synonyms":["COXPD27"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 27","synonyms":["COXPD27"],"definition":"A rare mitochondrial oxidative phosphorylation disorder characterized by a variable clinical phenotype including infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder, and liver involvement, as well as childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment, and progressive tetraparesis. Serum lactate may be increased, and brain imaging shows variable atrophy and white matter abnormalities."},"zh":{"name":"复合氧化磷酸化缺陷27型","synonyms":["COXPD27"]},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 27","synonyms":["COXPD27"]}},"xrefs":[{"source":"OMIM","code":"616672","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,"icd11_uri":"null"},{"source":"MONDO","code":"0014728","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567608","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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CARS2","name":"cysteinyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25787132[PMID]_25361775[PMID]","hgnc":"25695","ensembl":"ENSG00000134905","omim":"612800","loci":["13q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"25361775[PMID]_25787132[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25361775[PMID]_25787132[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-27","source":"30139652[PMID]_25787132[PMID]_25361775[PMID]","terms":[{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011923","label":"Decreased activity of mitochondrial complex I","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011924","label":"Decreased activity of mitochondrial complex III","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008347","label":"Decreased activity of mitochondrial complex IV","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031165","label":"Multifocal seizures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100275","label":"Diffuse cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010853","label":"EEG with periodic lateralized epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025517","label":"Hypoplastic hippocampus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001790","label":"Nonimmune hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007351","label":"Upper limb postural tremor","frequency":"Occasional (29-5%)","criteria":null}]}}