{"orpha":868,"name":"Triose phosphate-isomerase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-868/","orphanet_url":"https://www.orpha.net/en/disease/detail/868","names":{"fr":{"name":"Déficit en triose-phosphate isomérase","definition":"Le déficit en triose-phosphate isomérase (TPI) est un trouble autosomique récessif héréditaire sévère du métabolisme glycolytique caractérisé par une anémie hémolytique et une neurodégénérescence."},"de":{"name":"Triosephosphat-Isomerase-Mangel","definition":"Der Triosephosphat-Isomerase (TPI)-Mangel ist eine schwere, autosomal-rezessiv vererbte Multisystemkrankheit mit gestörtem Glykolyse-Stoffwechsel und ist klinisch gekennzeichnet durch hämolytische Anämie und Neurodegeneration."},"es":{"name":"Deficiencia de triosa fosfato-isomerasa","definition":"El déficit de triosa fosfato isomerasa (TFI) es un trastorno grave multisistémico del metabolismo glucolítico, de herencia autosómica recesiva, que se caracteriza por anemia hemolítica y neurodegeración."},"it":{"name":"Deficit di trioso fosfato-isomerasi","definition":"Il deficit di trioso fosfato isomerasi (TPI) è una malattia multisistemica grave del metabolismo glicolitico, ad eredità autosomica recessiva, caratterizzata da anemia emolitica e neurodegenerazione."},"nl":{"name":"Triosefosfaatisomerasedeficiëntie","definition":"Triosefosfaatisomerase (TPI)-deficiëntie is een ernstige, autosomaal recessief overgeërfde, multisystemische aandoening van glycolyse, gekarakteriseerd door hemolytische anemie en neurodegeneratie."},"pt":{"name":"Deficiência de triose-fosfato isomerase","definition":"A deficiência de triosefosfato isomerase (TPI) é uma doença multissistémica grave, hereditária e autossómica recessiva, do metabolismo glicolítico, caracterizada por anemia hemolítica e neurodegeneração."},"pl":{"name":"Niedobór izomerazy triozofosforanowej"},"cs":{"name":"Deficit triozy fosfát-izomerázy"},"uk":{"name":"Дефіцит тріозафосфат-ізомерази","definition":"Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration."},"zh":{"name":"磷酸丙糖异构酶缺乏症"},"tr":{"name":"Trioz fosfat izomeraz eksikliği"}},"xrefs":[{"source":"OMIM","code":"615512","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D55.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"475025488"},{"source":"MONDO","code":"0014221","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0398562","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5287","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":308459,"name":"Disorder of glycolysis","classifications":[150,156]},{"orpha":225696,"name":"Energy metabolism disorder with epilepsy","classifications":[156,181]},{"orpha":98372,"name":"Hemolytic anemia due to a disorder of glycolytic enzymes","classifications":[156,194]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TPI1","name":"triosephosphate isomerase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"12009","ensembl":"ENSG00000111669","omim":"190450","loci":["12p13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"10916682[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007009","label":"Central nervous system degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006597","label":"Diaphragmatic paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null}]}}