{"orpha":79246,"name":"Pyruvate dehydrogenase phosphatase deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PDH phosphatase deficiency"],"definition":"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79246/","orphanet_url":"https://www.orpha.net/en/disease/detail/79246","names":{"fr":{"name":"Déficit en phosphatase du complexe pyruvate déshydrogénase","synonyms":["Déficit en PDH phosphatase"],"definition":"Le déficit en phosphatase du complexe pyruvate déshydrogénase est un sous-type très rare de déficit en pyruvate déshydrogénase (DPDH) caractérisé par une acidose lactique néonatale."},"de":{"name":"Pyruvat-Dehydrogenase-Phosphatase-Mangel","synonyms":["PDH Phosphatase-Mangel"],"definition":"Der Pyruvat-Dehydrogenase-Phosphatase-Mangel ist ein sehr seltener Subtyp des Pyruvat- Dehydrogenase-Mangels (PDHD, siehe dort) und gekennzeichnet durch Laktatazidämie im Neugeborenenalter."},"es":{"name":"Deficiencia de piruvato deshidrogenasa fosfatasa","synonyms":["Deficiencia de PDH fosfatasa"],"definition":"El déficit de piruvato deshidrogenasa fosfatasa es un subtipo muy raro de déficit de piruvato deshidrogenasa (PDHD, consulte este término) caracterizado por academia láctica en el periodo neonatal."},"it":{"name":"Deficit della piruvato deidrogenasi fosfatasi","synonyms":["Deficit della PDH fosfatasi"],"definition":"Il deficit di piruvato deidrogenasi fosfatasi è un sottotipo molto raro del deficit della piruvato deidrogenasi (PDHD; si veda questo termine), caratterizzato da acidemia lattica nel periodo neonatale."},"nl":{"name":"Pyruvaatdehydrogenasefosfatasedeficiëntie","synonyms":["PDH-fosfatasedeficiëntie","PDHPD"],"definition":"Een zeer zeldzaam subtype van pyruvaatdehydrogenasedeficiëntie (PDHD), gekarakteriseerd door lactaatacidose in de neonatale periode."},"pt":{"name":"Deficiência de piruvato desidrogenase fosfatase","definition":"A deficiência de piruvato desidrogenase fosfatase é um subtipo muito raro da deficiência de piruvato desidrogenase (PDHD; ver este termo), caracterizada por acidose láctica no período neonatal."},"pl":{"name":"Niedobór fosfatazy dehydrogenazy pirogronianowej","synonyms":["Niedobór fosfatazy PDH"]},"cs":{"name":"Deficit pyruvátdehydrogenáza-fosfatázy","synonyms":["Deficit PDH-fosfatázy"]},"uk":{"name":"Дефіцит фосфатази піруватдегідрогенази","synonyms":["Дефіцит PDH фосфатази"],"definition":"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period."},"zh":{"name":"丙酮酸脱氢酶磷酸酶缺陷症","synonyms":["PDH磷酸酶缺乏"]},"tr":{"name":"Pirüvat dehidrojenaz fosfataz eksikliği","synonyms":["PDH fosfataz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"608782","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":"1709497558"},{"source":"MONDO","code":"0012120","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536258","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837429","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9888","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":"PDP1","name":"pyruvate dehydrogenase phosphatase catalytic subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15855260[PMID]","hgnc":"9279","ensembl":"ENSG00000164951","omim":"605993","loci":["8q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"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":"15855260[PMID]_ 19184109[PMID]","terms":[{"hpo":"HP:0002928","label":"Decreased activity of the pyruvate dehydrogenase complex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040328","label":"Focal hyperintensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003348","label":"Hyperalaninemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008358","label":"Hyperprolinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003648","label":"Lacticaciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null}]}}