{"orpha":712,"name":"Hemolytic anemia due to glucophosphate isomerase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GPI deficiency","Glucose-6-phosphate isomerase deficiency"],"definition":"A rare hemolytic anemia due to a defect of the glycolytic enzyme glucose 6-phosphate isomerase (GPI) characterized by chronic nonspherocytic hemolytic anemia and, rarely, neurological impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-712/","orphanet_url":"https://www.orpha.net/en/disease/detail/712","names":{"fr":{"name":"Anémie hémolytique par déficit en phosphoglucose isomérase","synonyms":["Déficit en Clucose-6-phosphate isomerase","Déficit en GPI"],"definition":"Anémie hémolytique rare par anomalie de l'enzyme glycolytique glucose-6-phosphate isomérase (GPI), caractérisée par une anémie hémolytique chronique non sphérocytaire et, dans de rares cas, par des troubles neurologiques."},"de":{"name":"Hämolytische Anämie durch Glukosephosphat-Isomerase-Mangel","synonyms":["GPI-Defizienz","Glukose-6-Phosphat-Isomerase-Mangel"],"definition":"Eine seltene hämolytische Anämie aufgrund eines Defekts des glykolytischen Enzyms Glukose-6-Phosphat-Isomerase (GPI), die durch eine chronische nichtsphärozytäre hämolytische Anämie und selten durch neurologische Störungen gekennzeichnet ist."},"es":{"name":"Anemia hemolítica por deficiencia de glucosa fosfato isomerasa","synonyms":["Deficiencia de GPI","Deficiencia de glucosa-6-fosfato isomerasa"],"definition":"Es una anemia hemolítica poco frecuente debida a un defecto de la enzima glucolítica glucosa-6-fosfato isomerasa (GPI) caracterizada por anemia hemolítica crónica no esferocítica y, excepcionalmente , por afectación neurológica."},"it":{"name":"Anemia emolitica da deficit di glucosio-fosfato isomerasi","synonyms":["Deficit di GPI","Deficit di glucosio-6-fosfati isomerasi"]},"nl":{"name":"Hemolytische anemie door deficiëntie van glucofosfaatisomerase","synonyms":["Deficiëntie van glucose-6-fosfaatisomerase","GPI-deficiëntie"],"definition":"Een zeldzame hemolytische anemie door een defect van het glycolytische enzym glucose-6-fosfaat-isomerase (GPI), gekenmerkt door chronische niet-sferocytaire hemolytische anemie en, zelden, neurologische functiestoornis."},"pt":{"name":"Anemia hemolítica por deficiência de glucose-fosfato isomerase","definition":"Anemia hemolítica rara devido a um defeito da enzima glicolítica glicose 6-fosfato isomerase (GPI), caracterizada por anemia hemolítica crónica não esferocítica e, raramente, compromisso neurológico."},"pl":{"name":"Niedokrwistość hemolityczna z powodu niedoboru izomerazy glukofosforanowej","synonyms":["GPI deficiency","Glucose-6-phosphate isomerase deficiency"]},"cs":{"name":"Hemolytická anémie způsobená deficitem glukózafosfátizomerázy","synonyms":["GPI deficiency","Glucose-6-phosphate isomerase deficiency"]},"uk":{"name":"Гемолітична анемія внаслідок дефіциту глюкофосфат-ізомерази","definition":"Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia."},"zh":{"name":"磷酸葡萄糖异构酶缺乏所致溶血性贫血"},"tr":{"name":"Glukofosfat izomeraz eksikliğine bağlı hemolitik anemi"}},"xrefs":[{"source":"OMIM","code":"613470","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":"659921796"},{"source":"MONDO","code":"0013275","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272064","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":308459,"name":"Disorder of glycolysis","classifications":[150,156]},{"orpha":98372,"name":"Hemolytic anemia due to a disorder of glycolytic enzymes","classifications":[156,194]}],"children":[],"genes":[{"symbol":"GPI","name":"glucose-6-phosphate isomerase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9446754[PMID]_22782259[PMID]","hgnc":"4458","ensembl":"ENSG00000105220","omim":"172400","loci":["19q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2025-05-19","source":"38106292[PMID]_30585945[PMID]_30585945[PMID]","terms":[{"hpo":"HP:0003568","label":"Decreased glucosephosphate isomerase level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001930","label":"Nonspherocytic hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008282","label":"Unconjugated hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001082","label":"Cholecystitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011981","label":"Pigment gallstones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004447","label":"Poikilocytosis","frequency":"Occasional (29-5%)","criteria":null}]}}