{"Name":"Diamond-Blackfan anemia 2","DiseaseID__c":"GARD:0008283","id":8283,"encodedName":"diamond-blackfan-anemia-2","IsDeleted":false,"Disease_Name_Full__c":"Diamond-Blackfan anemia 2","Xref_IDs__c":"C1853666; C536130; DOID:0111885; MEDGEN:344104; MONDO:0011636; OMIM:606129","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:606129","Disease_Description__c":"Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {2:Landowski et al., 2013}).\\n\\nFor a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).","GARD_Name__c":"Diamond-Blackfan anemia 2","GARD_Synonym__c":"dba2","Curated_Disease_Description_Source__c":"MEDGEN:C1853666","Curated_Disease_Description__c":"Diamond-Blackfan anemia (DBA) in its classic form is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50% of affected individuals, and growth retardation in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia, no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:606129","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011636","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Diamond-Blackfan anemia (DBA) in its classic form is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50% of affected individuals, and growth retardation in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia, no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.","Curated_Disease_Description_Source__c":"MEDGEN:C1853666","GARD_Synonym__c":"dba2","Name":"Diamond-Blackfan anemia 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Diamond Blackfan Anemia Foundation, Inc.","Website__c":"https://dbafoundation.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008283","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK7047","Source__c":"Gene Review","Xref__c":"NBK7047"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=344104","Source__c":"C1853666","Xref__c":"MEDGEN:344104"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536130","Source__c":"MONDO:0011636","Xref__c":"C536130"},{"URL__c":"https://www.omim.org/entry/606129","Source__c":"C1853666; MONDO:0011636","Xref__c":"OMIM:606129"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853666","Source__c":"C1853666","Xref__c":"C1853666"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111885","Source__c":"MONDO:0011636","Xref__c":"DOID:0111885"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011636","Source__c":"GARD:0008283","Xref__c":"MONDO:0011636"}],"tags":{},"synonyms":["dba2"]}