{"orpha":466784,"name":"Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD28","Combined oxidative phosphorylation defect type 28"],"definition":"A rare mitochondrial disease characterized by a variable clinical phenotype ranging from fetal hydrops and postnatal hypotonia, bradycardia, and respiratory failure, resulting in death in the neonatal period, to infantile onset of episodes of acute cardiopulmonary failure associated with severe lactic acidosis, and slowly progressive muscle weakness. Muscle biopsy shows reduced activity of mitochondrial complexes I, III, and IV.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-466784/","orphanet_url":"https://www.orpha.net/en/disease/detail/466784","names":{"fr":{"name":"Insuffisance cardiopulmonaire néonatale sévère par défaut de méthylation mitochondriale","synonyms":["COXPD28","Déficit combiné de la phosphorylation oxydative type 28"],"definition":"Maladie mitochondriale rare caractérisée par un phénotype clinique variable oscillant entre une anasarque foetale et une hypotonie postnatale, une bradycardie et une insuffisance respiratoire, entraînant le décès pendant la période néonatale, et l'apparition infantile d'épisodes d'insuffisance cardiopulmonaire aiguë associée à une acidose lactique sévère et à une faiblesse musculaire lentement progressive. La biopsie musculaire révèle une activité réduite des complexes mitochondriaux I, III et IV."},"de":{"name":"Neonatales schweres kardio-pulmonales Versagen durch mitochondrialen Methylierungsdefekt","synonyms":["COXPD28","Kombinierter Defekt der oxidativen Phosphorylierung Typ 28"],"definition":"Eine seltene mitochondriale Erkrankung mit variablem klinischem Phänotyp, der von fetalem Hydrops und postnataler Hypotonie, Bradykardie und respiratorischer Insuffizienz mit neonatalem Tod bis zu akutem kardiopulmonalen Versagen im Säuglingsalter mit schwerer Laktatazidose und langsam progredienter Muskelschwäche reicht. Die Muskelbiopsie zeigt eine verminderte Aktivität der mitochondrialen Komplexe I, III und IV."},"es":{"name":"Insuficiencia cardiopulmonar grave neonatal por un defecto de la metilación mitocondrial","synonyms":["COXPD28","Deficiencia combinada de la fosforilación oxidativa tipo 28"],"definition":"Es una enfermedad mitocondrial poco frecuente caracterizada por un fenotipo clínico variable, que va desde hidropesía fetal e hipotonía postnatal, bradicardia e insuficiencia respiratoria, causando el fallecimiento en el período neonatal, hasta un inicio en la lactancia de episodios de insuficiencia cardiorrespiratoria aguda asociados a acidosis láctica grave y a debilidad muscular lentamente progresiva. La biopsia muscular muestra una reducción de la actividad de los complejos mitocondriales I, III y IV."},"it":{"name":"Insufficienza cardiopolmonare grave del neonato da difetto della metilazione mitocondriale","definition":"Si tratta di una malattia mitocondriale rara, caratterizzata da un quadro clinico variabile, che comprende l'idrope fetale, l'ipotonia postnatale, la bradicardia e l'insufficienza respiratoria, che causano la morte nel periodo neonatale, fino agli episodi di insufficienza cardiopolmonare acuta ad esordio infantile associati alla grave acidosi lattica e alla debolezza muscolare a progressione lenta. La biopsia dei muscoli evidenzia una riduzione dell'attività dei complessi mitocondriali I, III e IV."},"nl":{"name":"Neonataal ernstig cardiopulmonair falen als gevolg van een mitochondriaal methylatiedefect","synonyms":["COXPD28","Gecombineerde oxidatieve fosforylatiedeficiëntie type 28","Gecombineerde oxidatieve fosforyleringdeficiëntie type 28"],"definition":"Een zeldzame mitochondriale aandoening, gekarakteriseerd door een variabel klinisch fenotype gaande van hydrops foetalis en postnatale hypotonie, bradycardie, en respiratoir falen, resulterend in neonatale sterfte, tot infantiele aanvang van episodes van acute cardiopulmonaal falen geassocieerd met ernstige lactaatacidose, en traag progressieve spierzwakte. Spierbiopsie toont verminderde activiteit van mitochondriale complexen I, III en IV."},"pt":{"name":"Insuficiência cardiopulmonar grave neonatal por defeito da metilação mitocondrial"},"pl":{"name":"Ciężka niewydolność sercowo-płucna noworodków spowodowana wadą metylacji mitochondrialnej","synonyms":["COXPD28","Złożony defekt fosforylacji oksydacyjnej typu 28"]},"cs":{"name":"Neonatální závažné kardiopulmonální selhání z důvodu defektu mitochondriální metylace","synonyms":["COXPD28","Combined oxidative phosphorylation defect type 28","Kombinovaný defekt oxidativní fosforylace typu 28"]},"uk":{"name":"Неонатальна тяжка серцево-легенева недостатність, зумовлена дефектом метилювання мітохондрій","synonyms":["Комбінований дефект окисного фосфорилювання типу 28","COXPD28"],"definition":"A rare mitochondrial disease characterized by a variable clinical phenotype ranging from fetal hydrops and postnatal hypotonia, bradycardia, and respiratory failure, resulting in death in the neonatal period, to infantile onset of episodes of acute cardiopulmonary failure associated with severe lactic acidosis, and slowly progressive muscle weakness. Muscle biopsy shows reduced activity of mitochondrial complexes I, III, and IV."},"zh":{"name":"线粒体甲基化缺陷引起的新生儿严重心肺衰竭","synonyms":["复合氧化磷酸化缺陷28型"]},"tr":{"name":"Mitokondriyal metilasyon defektine bağlı ağır yenidoğan kardiyopulmoner yetmezlik","synonyms":["COXPD28","Kombine oksidatif fosforilasyon defekti tip 28"]}},"xrefs":[{"source":"OMIM","code":"616794","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":"0014775","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5569081","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]},{"orpha":254830,"name":"Mitochondrial substrate carrier disorder","classifications":[150,156]}],"children":[],"genes":[{"symbol":"SLC25A26","name":"solute carrier family 25 member 26","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26522469[PMID]","hgnc":"20661","ensembl":"ENSG00000144741","omim":"611037","loci":["3p14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"26522469[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26522469[PMID]"}],"phenotypes":null}