{"Name":"Diamond-Blackfan anemia 3","DiseaseID__c":"GARD:0010241","id":10241,"encodedName":"diamond-blackfan-anemia-3","IsDeleted":false,"Disease_Name_Full__c":"Diamond-Blackfan anemia 3","Xref_IDs__c":"C176912; C1857719; C536355; DOID:0111887; MEDGEN:387892; MONDO:0012529; OMIM:610629","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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012529","Disease_Description__c":"Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene.","GARD_Name__c":"Diamond-Blackfan anemia 3","GARD_Synonym__c":"dba3; diamond-blackfan anaemia caused by mutation in rps24; diamond-blackfan anaemia type 3; diamond-blackfan anemia caused by mutation in rps24; diamond-blackfan anemia type 3; rps24 diamond-blackfan anaemia; rps24 diamond-blackfan anemia; rps24-related diamond-blackfan anemia","Curated_Disease_Description_Source__c":"MEDGEN:C1857719","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:610629","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012529","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:C1857719","GARD_Synonym__c":"dba3; diamond-blackfan anaemia caused by mutation in rps24; diamond-blackfan anaemia type 3; diamond-blackfan anemia caused by mutation in rps24; diamond-blackfan anemia type 3; rps24 diamond-blackfan anaemia; rps24 diamond-blackfan anemia; rps24-related diamond-blackfan anemia","Name":"Diamond-Blackfan anemia 3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Diamond Blackfan Anemia Foundation, Inc.","Website__c":"https://dbafoundation.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1857719"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010241","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK7047","Source__c":"Gene Review","Xref__c":"NBK7047"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C176912","Source__c":"C1857719; MONDO:0012529","Xref__c":"C176912"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857719","Source__c":"C1857719","Xref__c":"C1857719"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536355","Source__c":"MONDO:0012529","Xref__c":"C536355"},{"URL__c":"https://www.omim.org/entry/610629","Source__c":"C1857719; MONDO:0012529","Xref__c":"OMIM:610629"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=387892","Source__c":"C1857719","Xref__c":"MEDGEN:387892"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111887","Source__c":"MONDO:0012529","Xref__c":"DOID:0111887"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012529","Source__c":"GARD:0010241","Xref__c":"MONDO:0012529"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RPS24","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rps24","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610629","Feature__r":{"HPO_Description__c":"A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001972","HPO_Name__c":"Macrocytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610629","Feature__r":{"HPO_Description__c":"Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011904","HPO_Synonym__c":"Increased hemoglobin F; Persistence of HbF","HPO_Name__c":"Persistence of hemoglobin F","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610629","Feature__r":{"HPO_Description__c":"A reduced number of reticulocytes in the peripheral blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001896","HPO_Name__c":"Reticulocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610629","Feature__r":{"HPO_Description__c":"Larger than normal size of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005518","HPO_Synonym__c":"Erythrocyte macrocytosis; Increased MCV","HPO_Name__c":"Increased mean corpuscular volume","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610629","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030270","HPO_Name__c":"Elevated red cell adenosine deaminase activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:610629","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000465","HPO_Synonym__c":"Neck webbing; Pterygium colli; Webbed neck","HPO_Name__c":"Webbed neck","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["dba3"," diamond-blackfan anaemia caused by mutation in rps24"," diamond-blackfan anaemia type 3"," diamond-blackfan anemia caused by mutation in rps24"," diamond-blackfan anemia type 3"," rps24 diamond-blackfan anaemia"," rps24 diamond-blackfan anemia"," rps24-related diamond-blackfan anemia"]}