{"orpha":255138,"name":"Pyruvate dehydrogenase E1-beta deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PDHBD","Pyruvate dehydrogenase complex E1 component subunit beta deficiency"],"definition":"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-255138/","orphanet_url":"https://www.orpha.net/en/disease/detail/255138","names":{"fr":{"name":"Déficit en pyruvate déshydrogénase E1-bêta","synonyms":["Déficit en sous-unité E1 bêta du complexe pyruvate déshydrogénase","PDHBD"],"definition":"Le déficit en pyruvate déshydrogénase E1-bêta est une forme extrêmement rare de déficit en pyruvate déshydrogénase (DPDH) caractérisée par une acidose lactique sévère, un retard de développement et une hypotonie."},"de":{"name":"Pyruvat-Dehydrogenase E1-beta-Mangel","synonyms":["PDHBD"],"definition":"Der Pyruvat-Dehydrogenase-E1-beta-Mangel ist eine extrem seltene Form des Pyruvat-Dehydrogenase-Mangels (PDHD; s. dort) und gekennzeichnet durch schwere Laktatazidose, verzögerte Entwicklung und Muskelhypotonie."},"es":{"name":"Deficiencia de piruvato deshidrogenasa E1-beta","synonyms":["Deficiencia de subunidad E1 beta del complejo piruvato deshidrogenasa","PDHBD"],"definition":"El déficit de la subunidad E1-beta del complejo piruvato deshidrogenasa es una forma extremadamente rara del déficit de piruvato deshidrogenasa (PDHD, consulte este término) caracterizada por una acidosis láctica grave, retraso en el desarrollo e hipotonía."},"it":{"name":"Deficit di E1-beta della piruvato deidrogenasi","synonyms":["Deficit della subunità beta della componente E1 del complesso della piruvato deidrogenasi","PDHBD"],"definition":"Il deficit di E1-beta della piruvato deidrogenasi è una forma estremamente rara del deficit della piruvato deidrogenasi (PDHD; si veda questo termine), caratterizzata da grave acidosi lattica, ritardo dello sviluppo e ipotonia."},"nl":{"name":"Pyruvaatdehydrogenase E1-bèta-deficiëntie","synonyms":["Deficiëntie van component E1-bèta van het pyruvaatdehydrogenasecomplex","PDHBD"],"definition":"Pyruvaatdehydrogenase E1-bèta-deficiëntie is een bijzonder zeldzame vorm van pyruvaatdehydrogenasedeficiëntie (PDHD, zie deze term), gekenmerkt door ernstige melkzuuracidose, vertraagde ontwikkeling en hypotonie."},"pt":{"name":"Deficiência da subunidade beta do componente E1 do complexo piruvato desidrogenase","definition":"A deficiência da subunidade beta-E1 de piruvato desidrogenase é uma forma extremamente rara de deficiência de piruvato desidrogenase (PDHD, ver este termo), caracterizada por acidose láctica grave, atraso no desenvolvimento e hipotonia."},"pl":{"name":"Niedobór dehydrogenazy pirogronianowej E1-beta","synonyms":["Niedobór składnika podjednostki beta kompleksu E1 dehydrogenzay pirogronianowej","PDHBD"]},"cs":{"name":"Deficit E1-beta pyruvát dehydrogenázy","synonyms":["PDHBD","Deficit beta podjednotky E1 komponenty pyruvátdehydrogenázového komplexu"]},"uk":{"name":"Дефіцит піруватдегідрогенази Е1-бета","synonyms":["PDHBD","Дефіцит бета-субодиниці комплексу піруватдегідрогенази Е1"],"definition":"Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia."},"zh":{"name":"丙酮酸脱氢酶E1-β缺乏症","synonyms":["丙酮酸脱氢酶复合物E1-β亚单位缺乏症"],"definition":"丙酮酸脱氢酶E1-β缺乏症是一种极为罕见的丙酮酸脱氢酶缺乏症，其特征是严重的乳酸酸中毒、发育迟缓和肌张力低下。"},"tr":{"name":"Piruvat dehidrojenaz E1-beta eksikliği","synonyms":["PDHBD","Piruvat dehidrojenaz kompleksi E1 bileşeni alt birim beta eksikliği"]}},"xrefs":[{"source":"OMIM","code":"614111","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"151727900"},{"source":"MONDO","code":"0013580","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566729","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3279841","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":765,"name":"Pyruvate dehydrogenase deficiency","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"PDHB","name":"pyruvate dehydrogenase E1 subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15138885[PMID]","hgnc":"8808","ensembl":"ENSG00000168291","omim":"179060","loci":["3p14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-13","source":"26865159[PMID]_18164639[PMID]_15138885[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002683","label":"Abnormality of the calvaria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002928","label":"Decreased activity of the pyruvate dehydrogenase complex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007016","label":"Corticospinal tract hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002365","label":"Hypoplasia of the brainstem","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007772","label":"Impaired smooth pursuit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007109","label":"Periventricular cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007165","label":"Periventricular heterotopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006970","label":"Periventricular leukomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200012","label":"Short corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}