{"Name":"Hemolytic anemia due to hexokinase deficiency","DiseaseID__c":"GARD:0003672","id":3672,"encodedName":"hemolytic-anemia-due-to-hexokinase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hemolytic anemia due to hexokinase deficiency","Xref_IDs__c":"C3150343; C562995; DOID:0051006; MEDGEN:461693; MONDO:0009340; OMIM:235700; ORPHA:90031","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":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009340","Disease_Description__c":"Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.","GARD_Name__c":"Hemolytic anemia due to hexokinase deficiency","GARD_Synonym__c":"anemia, congenital, nonspherocytic hemolytic, 5; anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient; cnsha5; hemolytic anaemia due to hexokinase deficiency; hemolytic anemia, nonspherocytic, due to hexokinase deficiency; hexokinase deficiency hemolytic anemia; non-spherocytic hemolytic anemia due to hexokinase deficiency; nonspherocytic hemolytic anaemia due to hexokinase deficiency; nonspherocytic hemolytic anemia due to hexokinase deficiency","Curated_Disease_Description_Source__c":"GARD:0003672","Curated_Disease_Description__c":"Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare condition mainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes. It can be caused by genetic changes in the HK1 gene and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:90031","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009340","ORPHANET_ID__c":"ORPHA:90031","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia hemolítica no esferocítica por deficiencia de hexoquinasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"anemia hemolítica no esferocítica por deficiencia de hexoquinasa","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":"Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare condition mainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes. It can be caused by genetic changes in the HK1 gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0003672","GARD_Synonym__c":"anemia, congenital, nonspherocytic hemolytic, 5; anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient; cnsha5; hemolytic anaemia due to hexokinase deficiency; hemolytic anemia, nonspherocytic, due to hexokinase deficiency; hexokinase deficiency hemolytic anemia; non-spherocytic hemolytic anemia due to hexokinase deficiency; nonspherocytic hemolytic anaemia due to hexokinase deficiency; nonspherocytic hemolytic anemia due to hexokinase deficiency","Name":"Hemolytic anemia due to hexokinase 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:90031"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003672","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3150343","Source__c":"C3150343","Xref__c":"C3150343"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=461693","Source__c":"C3150343","Xref__c":"MEDGEN:461693"},{"URL__c":"https://www.omim.org/entry/235700","Source__c":"C3150343; MONDO:0009340; ORPHA:90031","Xref__c":"OMIM:235700"},{"URL__c":"https://www.orpha.net/en/disease/detail/90031","Source__c":"C3150343; MONDO:0009340","Xref__c":"ORPHA:90031"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562995","Source__c":"MONDO:0009340","Xref__c":"C562995"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0051006","Source__c":"MONDO:0009340","Xref__c":"DOID:0051006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009340","Source__c":"GARD:0003672","Xref__c":"MONDO:0009340"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HK1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:235700","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:235700","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":"OMIM:235700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Activity or concentration of hexokinase (EC 2.7.1.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000559","HPO_Name__c":"Reduced erythrocyte hexokinase activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:235700","Feature__r":{"HPO_Description__c":"An increased amount of bilirubin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002904","HPO_Synonym__c":"High blood bilirubin levels","HPO_Name__c":"Hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:235700","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001895","HPO_Name__c":"Normochromic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:235700","Feature__r":{"HPO_Description__c":"A kind of anemia in which the volume of the red blood cells is normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001897","HPO_Name__c":"Normocytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:235700","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"}},{"Provided_By__c":"OMIM:235700","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":"OMIM:235700","Feature__r":{"HPO_Description__c":"Hard, pebble-like deposits that form within the gallbladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001081","HPO_Synonym__c":"Gallstones","HPO_Name__c":"Cholelithiasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:235700","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["anemia, congenital, nonspherocytic hemolytic, 5"," anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient"," cnsha5"," hemolytic anaemia due to hexokinase deficiency"," hemolytic anemia, nonspherocytic, due to hexokinase deficiency"," hexokinase deficiency hemolytic anemia"," non-spherocytic hemolytic anemia due to hexokinase deficiency"," nonspherocytic hemolytic anaemia due to hexokinase deficiency"," nonspherocytic hemolytic anemia due to hexokinase deficiency"]}