{"Name":"Hemolytic anemia due to adenylate kinase deficiency","DiseaseID__c":"GARD:0016760","id":16760,"encodedName":"hemolytic-anemia-due-to-adenylate-kinase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hemolytic anemia due to adenylate kinase deficiency","Xref_IDs__c":"766982000; C2675459; C567228; DOID:0051004; MEDGEN:390802; MONDO:0012967; OMIM:612631; ORPHA:86817","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0012967","Disease_Description__c":"Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.","GARD_Name__c":"Hemolytic anemia due to adenylate kinase deficiency","GARD_Synonym__c":"adenylate kinase deficiency, hemolytic anaemia due to; adenylate kinase deficiency, hemolytic anemia due to; anemia, congenital, nonspherocytic hemolytic, 3; cnsha3","Curated_Disease_Description_Source__c":"MONDO:0012967","Curated_Disease_Description__c":"Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:86817","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012967","ORPHANET_ID__c":"ORPHA:86817","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia hemolítica por deficiencia de adenilato quinasa","Spanish_Description_Source__c":"ORPHA:86817","Spanish_Description__c":"La anemia hemolítica debida a la deficiencia de adenilato quinasa, es una anemia hemolítica poco frecuente debida a un trastorno del metabolismo de los nucleótidos en los eritrocitos. Está caracterizada por anemia hemolítica crónica no esferocítica de moderada a grave, que puede requerir transfusiones sanguineas regulares, y/o esplenomegalia. Puede estar asociada a discapacidad psicomotora.","Spanish_Disease_Name__c":"anemia hemolítica por deficiencia de adenilato quinasa","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":"Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.","Curated_Disease_Description_Source__c":"MONDO:0012967","GARD_Synonym__c":"adenylate kinase deficiency, hemolytic anaemia due to; adenylate kinase deficiency, hemolytic anemia due to; anemia, congenital, nonspherocytic hemolytic, 3; cnsha3","Name":"Hemolytic anemia due to adenylate kinase 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":"Childhood","Provided_By__c":"ORPHA:86817"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:86817"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:86817"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766982000","Source__c":"C2675459; MONDO:0012967","Xref__c":"766982000"},{"URL__c":"https://www.omim.org/entry/612631","Source__c":"C2675459; MONDO:0012967; ORPHA:86817","Xref__c":"OMIM:612631"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567228","Source__c":"MONDO:0012967","Xref__c":"C567228"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2675459","Source__c":"C2675459","Xref__c":"C2675459"},{"URL__c":"https://www.orpha.net/en/disease/detail/86817","Source__c":"C2675459; MONDO:0012967; ORPHA:86817","Xref__c":"ORPHA:86817"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=390802","Source__c":"C2675459","Xref__c":"MEDGEN:390802"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012967","Source__c":"GARD:0016760","Xref__c":"MONDO:0012967"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0051004","Source__c":"MONDO:0012967","Xref__c":"DOID:0051004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AK1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612631","Feature__r":{"HPO_Description__c":"A type of anemia caused by premature destruction of red blood cells (hemolysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001878","HPO_Synonym__c":"Haemolytic anemia; Increased hemolysis","HPO_Name__c":"Hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612631","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Activity or concentration of in the level of adenylate kinase (EC 2.7.4.3) in erythrocytes below the lower limit of normal. Adenylate kinase is a ubiquitous monomeric enzyme that catalyzes the reversible conversion of MgATP plus AMP to MgADP plus ADP and contributes to homeostasis of the adenine nucleotide composition in the cell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000558","HPO_Name__c":"Reduced erythrocyte adenylate kinase activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["adenylate kinase deficiency, hemolytic anaemia due to"," adenylate kinase deficiency, hemolytic anemia due to"," anemia, congenital, nonspherocytic hemolytic, 3"," cnsha3"]}