{"orpha":101028,"name":"Transaldolase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["TALDO deficiency"],"definition":"Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101028/","orphanet_url":"https://www.orpha.net/en/disease/detail/101028","names":{"fr":{"name":"Déficit en transaldolase","synonyms":["Déficit en TALDO"],"definition":"Le déficit en transaldolase est une erreur innée du métabolisme de la voie des pentoses phosphates, survenant dans la période néonatale ou prénatale, associé à un hydrops foetalis, une hépato-splénomégalie, une anomalie de la fonction hépatique, une thrombocytopénie, une anémie et des anomalies rénales et cardiaques."},"de":{"name":"Transaldolase-Mangel","synonyms":["TALDO-Mangel"],"definition":"Der Transaldolase-Mangel ist ein angeborener Stoffwechseldefekt des Pentosephosphat-Weges. Er wird bereits pränatal oder in der Neonatalperiode mit Hydrops fetalis, Hepatosplenomegalie, Leberdysfunktion, Thrombozytopenie, Anämie und kardialen und renalen Anomalien manifest."},"es":{"name":"Deficiencia de transaldolasa","synonyms":["Deficiencia de TALDO"],"definition":"El déficit de transaldolasa es un error innato de la vía de las pentosas fosfato, que se presenta en el período neonatal o prenatal con: hidropesía fetal, hepatoesplenomegalia, disfunción hepática, trombocitopenia, anemia y anomalías renales y cardíacas."},"it":{"name":"Deficit di transaldolasi","synonyms":["TALDO"]},"nl":{"name":"Transaldolasedeficiëntie","synonyms":["TALDO-deficiëntie"],"definition":"Een aangeboren defect van pentosefosfaatcyclus, dat zich presenteert in de neonatale of prenatale periode met hydrops foetalis, hepatosplenomegalie, leverdisfunctie, trombocytopenie, anemie, en afwijkingen van nier en hart."},"pt":{"name":"Deficiência de transaldolase"},"pl":{"name":"Niedobór transaldolazy","synonyms":["Niedobór TALDO"]},"cs":{"name":"Deficit transaldolázy","synonyms":["TALDO"]},"uk":{"name":"Дефіцит трансальдолази","synonyms":["Дефіцит TALDO"],"definition":"Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities."},"zh":{"name":"转醛醇酶缺乏症","synonyms":["转醛醇酶缺缺陷病"],"definition":"转醛醇酶缺乏症是一种先天性的磷酸戊糖途径的错误，表现在新生儿或产前胎儿水肿、肝脾肿大、肝功能障碍、血小板减少、贫血以及肾脏和心脏异常。"},"tr":{"name":"Transaldolaz eksikliği","synonyms":["TALDO eksikliği"]}},"xrefs":[{"source":"OMIM","code":"606003","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"424536994"},{"source":"MONDO","code":"0011624","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563207","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1291329","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10445","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79186,"name":"Disorder of pentose phosphate metabolism","classifications":[150,156]}],"children":[],"genes":[{"symbol":"TALDO1","name":"transaldolase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23315216[PMID]","hgnc":"11559","ensembl":"ENSG00000177156","omim":"602063","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"23315216[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23315216[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-12-22","source":"11283793[PMID]_23315216[PMID]","terms":[{"hpo":"HP:0010903","label":"Abnormality of glutamine metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012202","label":"Increased serum bile acid concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000056","label":"Abnormality of the clitoris","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100678","label":"Premature skin wrinkling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002795","label":"Abnormal respiratory system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200128","label":"Biventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null}]}}