{"orpha":420733,"name":"Combined oxidative phosphorylation defect type 21","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD21"],"definition":"Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-420733/","orphanet_url":"https://www.orpha.net/en/disease/detail/420733","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 21","synonyms":["COXPD21"],"definition":"Le déficit combiné de la phosphorylation oxydative type 21 est une maladie mitochondriale rare caractérisée par une hypotonie axiale avec hypertonie des membres, un retard de développement, une hyperlactatémie, des anomalies du système nerveux central visibles à l'imagerie par résonance magnétique (hypoplasie du corps calleux, lésions du globus pallidus), ainsi que plusieurs déficits des complexes de la chaîne respiratoire mitochondriale du tissu musculaire, mais pas dans les fibroblastes ou le foie."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 21","synonyms":["COXPD21"],"definition":"Eine seltene mitochondriale Erkrankung, die durch axiale Hypotonie mit Hypertonie der Gliedmaßen, Entwicklungsverzögerung, Hyperlaktatämie, in der Magnetresonanztomographie sichtbare Anomalien des Zentralnervensystems (z.B. Hypoplasie des Corpus callosum, Läsionen des Globus pallidus) und multiplen Mangel der mitochondrialen Atmungskettenkomplexe im Muskelgewebe, aber nicht in Fibroblasten oder der Leber gekennzeichnet ist."},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 21","synonyms":["COXPD21"],"definition":"La deficiencia combinada de fosforilación oxidativa tipo 21 es una enfermedad mitocondrial poco frecuente caracterizada por hipotonía axial con hipertonía de las extremidades, retraso del desarrollo, hiperlactacidemia, anomalías del sistema nervioso central visibles en imágenes de resonancia magnética (p.ej. hipoplasia del cuerpo calloso, lesiones del globo pálido) y deficiencia múltiple de los complejos de la cadena respiratoria mitocondrial en el tejido muscular, pero no en fibroblastos ni en hígado."},"it":{"name":"Difetto combinato della fosforilazione ossidativa, tipo 21","synonyms":["COXPD21"],"definition":"Il difetto combinato della fosforilazione ossidativa tipo 21 è una malattia rara dei mitocondri caratterizzata da ipotonia assiale con ipertonia degli arti, ritardo dello sviluppo, iperlattatemia, anomalie del sistema nervoso centrale alla risonanza magnetica (ipoplasia del corpo calloso, lesioni del globo pallido) e diversi deficit della dei complessi della catena respiratoria mitocondriale nei tessuti muscolari, ma non nei fibroblasti o nel fegato."},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 21","synonyms":["COXPD21","Gecombineerd defect in oxidatieve fosforylering type 21"],"definition":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 21 is een zeldzame mitochondriale aandoening die gekarakteriseerd wordt door axiale hypotonie met hypertonie van de ledematen, ontwikkelingsachterstand, hyperlactatemie, anomalieën van het centrale zenuwstelsel die zichtbaar zijn op beeldvorming met magnetische resonantie (e.g. hypoplasie van het corpus callosum, letsels van de globus pallidus), en meervoudige defecten van de mitochondriale ademhalingsketencomplexen in spierweefsel, maar niet in fibroblasten of de lever."},"pt":{"name":"Défice combinado da fosforilação oxidativa tipo 21"},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 21","synonyms":["COXPD21"]},"cs":{"name":"Kombinovaný deficit oxidativní fosforylace, typ 21","synonyms":["COXPD21"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 21","synonyms":["COXPD21"],"definition":"Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver."},"zh":{"name":"联合氧化磷酸化缺陷症21型","synonyms":["COXPD21"],"definition":"联合氧化磷酸化21型是一种罕见的线粒体疾病，其特征在于轴向肌张力低下，发育迟缓，高乳酸血症，在磁共振成像上可见的中枢神经系统畸形（如胼胝体发育不全，苍白球病变）。线粒体呼吸链复合物在肌肉组织中有多种缺，成纤维细胞或肝脏中无缺陷。"},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 21","synonyms":["COXPD21"]}},"xrefs":[{"source":"OMIM","code":"615918","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":"0014398","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706316","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":"TARS2","name":"threonyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24827421[PMID]","hgnc":"30740","ensembl":"ENSG00000143374","omim":"612805","loci":["1q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24827421[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24827421[PMID]"}],"phenotypes":null}