{"orpha":254920,"name":"Combined oxidative phosphorylation defect type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD2"],"definition":"Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254920/","orphanet_url":"https://www.orpha.net/en/disease/detail/254920","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 2","synonyms":["COXPD2"],"definition":"Un trouble mitochondrial rare dû à un défaut de synthèse des protéines mitochondriales. Il se caractérise par un retard de croissance intra-utérine sévère, un oedème des membres et une peau redondante au niveau du cou (anasarque) pendant la période néonatale, des anomalies du développement cérébral (agénésie du corps calleux, ventriculomégalie), une brachydactylie, une dysmorphie faciale avec des oreilles implantées basses, une acidose lactique néonatale intraitable sévère avec une léthargie, une hypotonie et l'absence de mouvements spontanés. L'issue est fatale. Une diminution prononcée de l'activité des complexes I, II+III et IV a été rapportée dans le muscle et le foie."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 2","synonyms":["COXPD2"],"definition":"Der kombinierte Defekt der oxidativen Phosphorylierung Typ 2 ist eine seltene mitochondriale Störung aufgrund eines Defekts in der mitochondrialen Proteinsynthese, die durch schwere intrauterine Wachstumsretardierung, neonatale Gliedmaßenödeme und redundante Haut am Hals (Hydrops) gekennzeichnet ist. Weitere Merkmale sind Entwicklungsdefekte des Gehirns (Agenesie des Corpus callosum, Ventrikulomegalie), Brachydaktylie, dysmorphe Gesichtszüge mit tief angesetzten Ohren, schwere hartnäckige neonatale Laktatazidose mit Lethargie, Hypotonie, fehlenden Spontanbewegungen und tödlichem Ausgang. Deutlich verminderte Aktivität von Komplex I, II + III und IV in Muskel und Leber wurden festgestellt."},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 2","synonyms":["COXPD2"],"definition":"La deficiencia combinada de la fosforilación oxidativa tipo 2 es un trastorno mitocondrial poco frecuente, debido a un defecto en la síntesis de proteínas mitocondriales. Está caracterizada por un retraso grave del crecimiento intrauterino, edema neonatal en las extremidades e hinchazón de la piel del cuello (hidrops), defectos del desarrollo cerebral (agenesia del cuerpo calloso, ventriculomegalia), braquidactilia, rasgos faciales dismórficos con orejas de implantación baja, acidosis láctica neonatal grave e intratable, con letargia, hipotonía, ausencia de movimientos espontáneos y desenlace fatal. Tambien se ha registrado una marcada disminución de la actividad del complejo I, II + III y IV en músculo e hígado."},"it":{"name":"Difetto combinato della fosforilazione ossidativa, tipo 2","synonyms":["COXPD2"],"definition":"Il difetto combinato della fosforilazione ossidativa tipo 2 è una malattia rara dei mitocondri causata da un difetto della sintesi proteica mitocondriale. È caratterizzato da grave ritardo della crescita prenatale, edema degli arti nel neonato e cute ridondante sul collo (idrope), anomalie dello sviluppo cerebrale (agenesia del corpo calloso, ventricolomegalia), brachidattilia, dismorfismi facciali con orecchie a basso impianto, acidosi lattica neonatale grave non trattabile con letargia, ipotonia e assenza dei movimenti spontanei. La prognosi è sfavorevole. Si osserva una marcata riduzione dell'attività dei complessi I, II + III e IV nei muscoli.e nel fegato"},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 2","synonyms":["COXPD2","Gecombineerd defect in oxidatieve fosforylering type 2"],"definition":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 2 is een zeldzame mitochondriale stoornis als gevolg van een defect in de mitochondriale proteïnesynthese, en wordt gekarakteriseerd door ernstige intra-uteriene groeiretardatie, neonataal oedeem van de ledematen en overtollige huid in de nek (hydrops), defecten van de hersenontwikkeling (agenesie van het corpus callosum, ventriculomegalie), brachydactylie, dysmorfe gelaatskenmerken met laagstaande oren, ernstige onbehandelbare neonatale lactaatacidose met lethargie, hypotonie, afwezigheid van spontane bewegingen, en een fatale gevolgen. Er werd opmerkelijk verminderde activiteit van complex I, II + III en IV in spier en lever vastgesteld."},"pt":{"name":"Deficiência combinada da fosforilação oxidativa, tipo 2","synonyms":["COXPD2"]},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 2","synonyms":["COXPD2"]},"cs":{"name":"Kombinovaný defekt oxidativní fosforylace, typ 2","synonyms":["COXPD2"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 2","synonyms":["COXPD2"],"definition":"Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined."},"zh":{"name":"结合氧化磷酸化不足2","synonyms":["COXPD2"],"definition":"2型联合氧化磷酸化缺陷症是一种罕见的线粒体疾病，其特征是线粒体蛋白合成缺陷，表现为严重的宫内生长迟缓，新生儿肢体水肿和颈部皮肤多余(水肿)，发育性脑缺陷(胼胝体发育不全，脑室肿大)，短指，畸形的面部特征和低耳垂，严重的顽固性新生儿乳酸酸中毒伴嗜睡，肌张力低下，缺乏自发活动和死亡的结局。在肌肉和肝脏中，复合体I、II+III和IV的活性明显降低。"},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 2","synonyms":["COXPD2"]}},"xrefs":[{"source":"OMIM","code":"610498","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":"index","validated":true,"icd11_uri":"1576919076"},{"source":"MONDO","code":"0012510","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566468","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864843","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":"MRPS16","name":"mitochondrial ribosomal protein S16","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15505824[PMID]","hgnc":"14048","ensembl":"ENSG00000182180","omim":"609204","loci":["10q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"15505824[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15505824[PMID]"}],"phenotypes":null}