{"Name":"Hemolytic anemia due to erythrocyte adenosine deaminase overproduction","DiseaseID__c":"GARD:0019669","id":19669,"encodedName":"hemolytic-anemia-due-to-erythrocyte-adenosine-deaminase-overproduction","IsDeleted":false,"Disease_Name_Full__c":"Hemolytic anemia due to erythrocyte adenosine deaminase overproduction","Xref_IDs__c":"C1863235; C566314; DOID:0051008; MEDGEN:400240; MONDO:0020458; OMIM:301083; ORPHA:99138","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020458","Disease_Description__c":"Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.","GARD_Name__c":"Hemolytic anemia due to erythrocyte adenosine deaminase overproduction","GARD_Synonym__c":"adenosine deaminase, elevated, hemolytic anaemia due to; adenosine deaminase, elevated, hemolytic anemia due to; anemia, congenital, nonspherocytic hemolytic, 9; cnsha9; erythrocyte ada, elevated, hemolytic anemia due to","Curated_Disease_Description_Source__c":"MONDO:0020458","Curated_Disease_Description__c":"Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:99138","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020458","ORPHANET_ID__c":"ORPHA:99138","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia hemolítica por sobreproducción de adenosina deaminasa en eritrocitos","Spanish_Description_Source__c":"ORPHA:99138","Spanish_Description__c":"La anemia hemolítica por sobreproducción de adenosina deaminasa en eritrocitos es una enfermedad genética hematológica poco frecuente caracterizada por anemia hemolítica crónica leve (debida a la actividad de la adenosina deaminasa en los glóbulos rojos extremadamente elevada, que resulta en su destrucción prematura), recuento de reticulocitos elevado, esplenomegalia e hiperbilirrubinemia leve. No están afectadas otras células ni tejidos.","Spanish_Disease_Name__c":"anemia hemolítica por sobreproducción de adenosina deaminasa en eritrocitos","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 erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.","Curated_Disease_Description_Source__c":"MONDO:0020458","GARD_Synonym__c":"adenosine deaminase, elevated, hemolytic anaemia due to; adenosine deaminase, elevated, hemolytic anemia due to; anemia, congenital, nonspherocytic hemolytic, 9; cnsha9; erythrocyte ada, elevated, hemolytic anemia due to","Name":"Hemolytic anemia due to erythrocyte adenosine deaminase overproduction","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"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1863235","Source__c":"C1863235","Xref__c":"C1863235"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566314","Source__c":"MONDO:0020458","Xref__c":"C566314"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=400240","Source__c":"C1863235","Xref__c":"MEDGEN:400240"},{"URL__c":"https://www.omim.org/entry/301083","Source__c":"C1863235; MONDO:0020458","Xref__c":"OMIM:301083"},{"URL__c":"https://www.orpha.net/en/disease/detail/99138","Source__c":"C1863235; MONDO:0020458","Xref__c":"ORPHA:99138"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020458","Source__c":"GARD:0019669","Xref__c":"MONDO:0020458"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0051008","Source__c":"MONDO:0020458","Xref__c":"DOID:0051008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GATA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gata1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:301083","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012132","HPO_Name__c":"Erythroid hyperplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301083","HPO_Frequency__c":"Very frequent (80-99%)","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:301083","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:4000184","HPO_Name__c":"Reduced erythrocyte adenosine triphosphate concentration","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301083","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004446","HPO_Synonym__c":"erythrocyte stomatocytes; Red cell stomatocytosis","HPO_Name__c":"Stomatocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301083","HPO_Frequency__c":"Very frequent (80-99%)","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:301083","HPO_Frequency__c":"Very frequent (80-99%)","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"]},"synonyms":["adenosine deaminase, elevated, hemolytic anaemia due to"," adenosine deaminase, elevated, hemolytic anemia due to"," anemia, congenital, nonspherocytic hemolytic, 9"," cnsha9"," erythrocyte ada, elevated, hemolytic anemia due to"]}