{"Name":"Hemolytic anemia due to glucophosphate isomerase deficiency","DiseaseID__c":"GARD:0016541","id":16541,"encodedName":"hemolytic-anemia-due-to-glucophosphate-isomerase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hemolytic anemia due to glucophosphate isomerase deficiency","Xref_IDs__c":"C0272064; DOID:0051005; MEDGEN:543776; MONDO:0013275; OMIM:613470; ORPHA:712","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013275","Disease_Description__c":"Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.","GARD_Name__c":"Hemolytic anemia due to glucophosphate isomerase deficiency","GARD_Synonym__c":"anemia, congenital, nonspherocytic hemolytic, 4; anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient; cnsha4; glucosephosphate isomerase deficiency; hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; hereditary nonspherocytic hemolytic anemia (hnsha) due to glucose phosphate isomerase deficiency; hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency; hnsha due to glucose phosphate isomerase deficiency","Curated_Disease_Description_Source__c":"MONDO:0013275","Curated_Disease_Description__c":"Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) may also occur in this disorder.  Hemolytic anemia in GPI deficiency can range from mild to severe. In the most severe cases, affected individuals do not survive to birth. Individuals with milder disease can survive into adulthood. People with any level of severity of the disorder can have episodes of more severe hemolysis, called hemolytic crises, which can be triggered by bacterial or viral infections.  A small percentage of individuals with GPI deficiency also have neurological problems, including intellectual disability and difficulty with coordinating movements (ataxia).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:712","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013275","ORPHANET_ID__c":"ORPHA:712","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia hemolítica por deficiencia de glucosa fosfato isomerasa","Spanish_Description_Source__c":"ORPHA:712","Spanish_Description__c":"La deficiencia de fosfatoglucosa isomerasa (GPI, en inglés) es una eritroenzimopatía caracterizada por una anemia hemolítica no esferocítica crónica.","Spanish_Disease_Name__c":"anemia hemolítica por deficiencia de glucosa fosfato isomerasa","Spanish_GARD_Synonym__c":"deficiencia de glucosa-6-fosfato isomerasa; deficiencia de gpi","Category_Linearization__c":"ORPHA:97992","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) may also occur in this disorder.  Hemolytic anemia in GPI deficiency can range from mild to severe. In the most severe cases, affected individuals do not survive to birth. Individuals with milder disease can survive into adulthood. People with any level of severity of the disorder can have episodes of more severe hemolysis, called hemolytic crises, which can be triggered by bacterial or viral infections.  A small percentage of individuals with GPI deficiency also have neurological problems, including intellectual disability and difficulty with coordinating movements (ataxia).","Curated_Disease_Description_Source__c":"MONDO:0013275","GARD_Synonym__c":"anemia, congenital, nonspherocytic hemolytic, 4; anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient; cnsha4; glucosephosphate isomerase deficiency; hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; hereditary nonspherocytic hemolytic anemia (hnsha) due to glucose phosphate isomerase deficiency; hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency; hnsha due to glucose phosphate isomerase deficiency","Name":"Hemolytic anemia due to glucophosphate isomerase deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:712"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:712"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/613470","Source__c":"C0272064; MONDO:0013275; ORPHA:712","Xref__c":"OMIM:613470"},{"URL__c":"https://www.orpha.net/en/disease/detail/712","Source__c":"C0272064; MONDO:0013275; ORPHA:712","Xref__c":"ORPHA:712"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013275","Source__c":"GARD:0016541","Xref__c":"MONDO:0013275"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0051005","Source__c":"MONDO:0013275","Xref__c":"DOID:0051005"},{"URL__c":"https://medlineplus.gov/genetics/condition/glucose-phosphate-isomerase-deficiency"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0272064","Source__c":"C0272064","Xref__c":"C0272064"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=543776","Source__c":"C0272064","Xref__c":"MEDGEN:543776"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=52413004","Source__c":"C0272064","Xref__c":"52413004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GPI","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gpi","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:712","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:712","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:712","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011981","HPO_Name__c":"Pigment gallstones","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:712","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of inflammatory changes in the gallbladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001082","HPO_Synonym__c":"Gallbladder inflammation","HPO_Name__c":"Cholecystitis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:712","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:712","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased level of glucose-6-phosphate isomerase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003568","HPO_Synonym__c":"Decreased glucose phosphate isomerase activity; Glucosephosphate isomerase deficiency; Phosphohexose isomerase deficiency","HPO_Name__c":"Decreased glucosephosphate isomerase level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:712","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001930","HPO_Name__c":"Nonspherocytic hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:712","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of abnormally shaped erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004447","HPO_Name__c":"Poikilocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:712","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:712","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased amount of unconjugated (indirect) bilurubin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008282","HPO_Name__c":"Unconjugated hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:712","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevated level of the enzyme lactate dehydrogenase in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025435","HPO_Synonym__c":"Increased circulating LDH concentration; Increased lactate dehydrogenase level","HPO_Name__c":"Increased circulating lactate dehydrogenase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:712","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001789","HPO_Name__c":"Hydrops fetalis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:712","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001923","HPO_Synonym__c":"Increased immature red blood cells; Increased number of immature red blood cells; Increased reticulocyte count; Increased reticulocytes","HPO_Name__c":"Reticulocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["anemia, congenital, nonspherocytic hemolytic, 4"," anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient"," cnsha4"," glucosephosphate isomerase deficiency"," hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency"," hereditary nonspherocytic hemolytic anemia (hnsha) due to glucose phosphate isomerase deficiency"," hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency"," hnsha due to glucose phosphate isomerase deficiency"]}