{"Name":"Autosomal recessive sideroblastic anemia","DiseaseID__c":"GARD:0017240","id":17240,"encodedName":"autosomal-recessive-sideroblastic-anemia","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive sideroblastic anemia","Xref_IDs__c":"717050005; C4274077; MEDGEN:895586; MONDO:0016828; ORPHA:260305","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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016828","Disease_Description__c":"Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.","GARD_Name__c":"Autosomal recessive sideroblastic anemia","GARD_Synonym__c":"arsa; congenital sideroblastic anemia; sideroblastic anemia, autosomal recessive","Curated_Disease_Description_Source__c":"ORPHA:260305","Curated_Disease_Description__c":"Autosomal recessive sideroblastic anemia is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:260305","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016828","ORPHANET_ID__c":"ORPHA:260305","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia sideroblástica autosómica recesiva","Spanish_Description_Source__c":"ORPHA:260305","Spanish_Description__c":"La anemia sideroblástica autosómica recesiva (ARSA; por sus siglas en inglés) congénita es una anemia sideroblástica microcítica/hipocrómica no sindrómica, presente desde la primera infancia y caracterizada por anemia microcítica grave que no responde a la piridoxina y por un aumento de la ferritina sérica.","Spanish_Disease_Name__c":"anemia sideroblástica autosómica recesiva","Spanish_GARD_Synonym__c":"anemia sideroblástica congénita; arsa","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":"Autosomal recessive sideroblastic anemia is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.","Curated_Disease_Description_Source__c":"ORPHA:260305","GARD_Synonym__c":"arsa; congenital sideroblastic anemia; sideroblastic anemia, autosomal recessive","Name":"Autosomal recessive sideroblastic anemia","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:260305"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:260305"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=895586","Source__c":"C4274077","Xref__c":"MEDGEN:895586"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274077","Source__c":"C4274077","Xref__c":"C4274077"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717050005","Source__c":"C4274077; MONDO:0016828","Xref__c":"717050005"},{"URL__c":"https://www.orpha.net/en/disease/detail/260305","Source__c":"C4274077; MONDO:0016828; ORPHA:260305","Xref__c":"ORPHA:260305"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016828","Source__c":"GARD:0017240","Xref__c":"MONDO:0016828"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC25A38","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HSPA9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["arsa"," congenital sideroblastic anemia"," sideroblastic anemia, autosomal recessive"]}