{"Name":"Deficiency of bisphosphoglycerate mutase","DiseaseID__c":"GARD:0001874","id":1874,"encodedName":"deficiency-of-bisphosphoglycerate-mutase","IsDeleted":false,"Disease_Name_Full__c":"Deficiency of bisphosphoglycerate mutase","Xref_IDs__c":"124678007; C1291620; C131638; DOID:0111630; MEDGEN:489898; MONDO:0009113; OMIM:222800; ORPHA:714","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009113","Disease_Description__c":"A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.","GARD_Name__c":"Deficiency of bisphosphoglycerate mutase","GARD_Synonym__c":"bpgm deficiency; deficiency of bisphosphoglycerate synthase; deficiency of diphosphoglycerate mutase; deficiency of glycerate phosphomutase; diphosphoglycerate mutase deficiency of erythrocyte; diphosphoglycerate phosphatase deficiency; dpgm deficiency; erythrocytosis, familial, 8; hemolytic anemia due to diphosphoglycerate mutase deficiency","Curated_Disease_Description_Source__c":"MONDO:0009113","Curated_Disease_Description__c":"A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:714","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009113","ORPHANET_ID__c":"ORPHA:714","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia hemolítica por deficiencia de difosfoglicerato mutasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"anemia hemolítica por deficiencia de difosfoglicerato mutasa","Spanish_GARD_Synonym__c":null,"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":"A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.","Curated_Disease_Description_Source__c":"MONDO:0009113","GARD_Synonym__c":"bpgm deficiency; deficiency of bisphosphoglycerate synthase; deficiency of diphosphoglycerate mutase; deficiency of glycerate phosphomutase; diphosphoglycerate mutase deficiency of erythrocyte; diphosphoglycerate phosphatase deficiency; dpgm deficiency; erythrocytosis, familial, 8; hemolytic anemia due to diphosphoglycerate mutase deficiency","Name":"Deficiency of bisphosphoglycerate mutase","estimateUsa":""}],"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:714"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1291620"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001874","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/714","Source__c":"C1291620; MONDO:0009113","Xref__c":"ORPHA:714"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=489898","Source__c":"C1291620","Xref__c":"MEDGEN:489898"},{"URL__c":"https://www.omim.org/entry/222800","Source__c":"C1291620; MONDO:0009113; ORPHA:714","Xref__c":"OMIM:222800"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111630","Source__c":"MONDO:0009113","Xref__c":"DOID:0111630"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1291620","Source__c":"C1291620","Xref__c":"C1291620"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131638","Source__c":"C1291620; MONDO:0009113","Xref__c":"C131638"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124678007","Source__c":"C1291620","Xref__c":"124678007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009113","Source__c":"GARD:0001874","Xref__c":"MONDO:0009113"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BPGM","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:222800","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Activity or concentration of bisphosphoglycerate mutase (BPGM; EC 5.4.2.4;) in red blood cells below the lower limit of normal. BPGM is a multifunctional enzyme specifically found in red blood cells that synthesizes 2,3-diphosphoglycerate through its synthase activity and degrades it through its phosphatase activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000557","HPO_Name__c":"Reduced erythrocyte bisphosphoglycerate mutase activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:222800","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration of hemoglobin in the blood circulation above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001900","HPO_Synonym__c":"Increased Hb; Increased Hb concentration; Increased hemoglobin; Increased hemoglobin concentration","HPO_Name__c":"Increased circulating hemoglobin concentration","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:222800","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001901","HPO_Synonym__c":"Abnormally shaped erythrocytes; Erythrocytosis; Increased red blood cells; Polyglobulia","HPO_Name__c":"Polycythemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:222800","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001899","HPO_Synonym__c":"Increased Hct","HPO_Name__c":"Increased hematocrit","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":["bpgm deficiency"," deficiency of bisphosphoglycerate synthase"," deficiency of diphosphoglycerate mutase"," deficiency of glycerate phosphomutase"," diphosphoglycerate mutase deficiency of erythrocyte"," diphosphoglycerate phosphatase deficiency"," dpgm deficiency"," erythrocytosis, familial, 8"," hemolytic anemia due to diphosphoglycerate mutase deficiency"]}