{"orpha":137908,"name":"Hypotonia with lactic acidemia and hyperammonemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD5","Combined oxidative phosphorylation defect type 5"],"definition":"This syndrome is characterized by severe hypotonia, lactic acidemia and congenital hyperammonaemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137908/","orphanet_url":"https://www.orpha.net/en/disease/detail/137908","names":{"fr":{"name":"Hypotonie avec acidose lactique et hyperammonémie","synonyms":["COXPD5","Déficit combiné de la phosphorylation oxydative type 5"],"definition":"Ce syndrome se caractérise par une hypotonie sévère, une acidémie lactique et une hyperammoniémie congénitale."},"de":{"name":"Hypotonie mit Laktatazidose und Hyperammonämie","synonyms":["COXPD5","Kombinierter Defekt der oxidativen Phosphorylierung Typ 5"],"definition":"Dieses Syndrom ist gekennzeichnet durch schwere Muskelhypotonie, Laktatazidose und von Geburt an bestehende Hyperammonämie."},"es":{"name":"Hipotonia con acidemia láctica e hiperamonemia","synonyms":["COXPD5","Deficiencia combinada de la fosforilación oxidativa tipo 5"],"definition":"Este síndrome se caracteriza por hipotonía grave, acidemia láctica e hiperamonemia congénita."},"it":{"name":"Ipotonia con acidemia lattica e iperammoniemia","synonyms":["Difetto combinato della fosforilazione ossidativa, tipo 5","COXPD5"]},"nl":{"name":"Hypotonie met melkzuuracidemie en hyperammoniëmie","synonyms":["COXPD5","Gecombineerde oxidatieve fosforylatiedeficiëntie type 5","Hypotonie met lactaatacidemie en hyperammoniëmie"],"definition":"Een syndroom, gekenmerkt door ernstige hypotonie, lactaatacidemie, en congenitale hyperammoniëmie."},"pt":{"name":"Hipotonia com acidemia láctica e hiperamoniemia","definition":"Esta síndrome é caracterizada por hipotonia grave, acidémia láctica e hiperamonemia congénita."},"pl":{"name":"Hipotonia z kwasicą mleczanową i hiperamonemią","synonyms":["COXPD5","Złożony defekt fosforylacji oksydatywnej typu 5"]},"cs":{"name":"Hypotonie s laktátovou acidémií a hyperamonémií","synonyms":["COXPD5","Kombinovaný defekt oxidativní fosforylace, typ 5"]},"uk":{"name":"Гіпотонія з молочнокислим ацидозом та гіперамоніємією","synonyms":["Комбінований дефект окисного фосфорилювання типу 5","COXPD5"],"definition":"This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia."},"zh":{"name":"肌张力减退伴乳酸血症和高氨血症","synonyms":["联合氧化磷酸化缺陷5型"],"definition":"该综合征的特征是严重的肌张力低下、乳酸血症和先天性高氨血症。"},"tr":{"name":"Laktik asidemi ve hiperamonyemi ile seyreden hipotoni","synonyms":["COXPD5","Kombine oksidatif fosforilasyon defekti tip 5"]}},"xrefs":[{"source":"OMIM","code":"611719","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":"373222828"},{"source":"MONDO","code":"0012718","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567126","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2673642","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]}],"children":[],"genes":[{"symbol":"MRPS22","name":"mitochondrial ribosomal protein S22","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17873122[PMID]","hgnc":"14508","ensembl":"ENSG00000175110","omim":"605810","loci":["3q23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"17873122[PMID]_21189481[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17873122[PMID]_21189481[PMID]"}],"phenotypes":null}