{"orpha":319519,"name":"Combined oxidative phosphorylation defect type 14","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD14"],"definition":"Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319519/","orphanet_url":"https://www.orpha.net/en/disease/detail/319519","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 14","synonyms":["COXPD14"],"definition":"Maladie mitochondriale rare par défaut de synthèse des protéines mitochondriales caractérisée par des crises convulsives néonatales ou infantiles réfractaires au traitement, un retard ou une absence de développement psychomoteur et une acidose lactique. Les autres manifestations rapportées incluent des difficultés à s'alimenter, un retard de croissance staturo-pondérale, une microcéphalie, une hypotonie, une anémie et une thrombocytopénie."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 14","synonyms":["COXPD14"]},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 14","synonyms":["COXPD14"],"definition":"Es una enfermedad mitocondrial poco frecuente debida a un defecto en la síntesis de proteínas mitocondriales. Está caracterizada por un inicio neonatal o en la lactancia, de convulsiones refractarias al tratamiento, retraso o ausencia de desarrollo psicomotor y acidosis láctica. Otras manifestaciones adicionales incluyen alimentación deficiente, fallo de medro, microcefalia, hipotonía, anemia y trombocitopenia."},"it":{"name":"Difetto combinato della fosforilazione ossidativa, tipo 14","synonyms":["COXPD14"],"definition":"Il difetto combinato della fosforilazione ossidativa tipo 14 è una malattia rara dei mitocondri causata da un'alterazione della sintesi proteica mitocondriale, caratterizzata da crisi epilettiche ad esordio neonatale o infantile refrattarie al trattamento, assenza o ritardo dello sviluppo psicomotorio e acidosi lattica. Altri segni clinici sono le difficoltà di alimentazione, il ritardo della crescita, la microcefalia, l'ipotonia, l'anemia e la trombocitopenia."},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 14","synonyms":["COXPD14","Gecombineerd defect in oxidatieve fosforylering type 14"],"definition":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 14 is een zeldzame mitochondriale ziekte als gevolg van een defect in de mitochondriale eiwitsynthese, en wordt gekarakteriseerd door neonatale of infantiele aanvang van insulten die refractair zijn voor behandeling, vertraagde of afwezige psychomotorische ontwikkeling en lactaatacidose. Bijkomende manifestaties die werden gerapporteerd, zijn onder meer weinig eten, groeiachterstand, microcefalie, hypotonie, anemie en trombocytopenie."},"pt":{"name":"Defeito combinado da fosforilação oxidativa, tipo 14"},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 14","synonyms":["COXPD14"]},"cs":{"name":"Kombinovaná porucha oxidativní fosforylace, typ 14","synonyms":["COXPD14"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 14","synonyms":["COXPD14"],"definition":"Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia."},"zh":{"name":"复合氧化磷酸化缺陷14型","synonyms":["COXPD14"],"definition":"联合氧化磷酸化缺陷14型是一种罕见的线粒体疾病，由线粒体蛋白质合成缺陷所致，其特征是新生儿或婴儿期起病的癫痫，且治疗无效，伴精神运动发育延迟或缺失以及乳酸性酸中毒。有报道的其他表现包括喂养困难、生长发育迟滞、小头畸形、张力减退、贫血和血小板减少。"},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 14","synonyms":["COXPD14"]}},"xrefs":[{"source":"OMIM","code":"614946","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":"0013986","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755312","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":"FARS2","name":"phenylalanyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22499341[PMID]","hgnc":"21062","ensembl":"ENSG00000145982","omim":"611592","loci":["6p25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"22833457[PMID]_22499341[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22833457[PMID]_22499341[PMID]"}],"phenotypes":null}