{"Name":"Acute myeloid leukemia with CEBPA somatic mutations","DiseaseID__c":"GARD:0017451","id":17451,"encodedName":"acute-myeloid-leukemia-with-cebpa-somatic-mutations","IsDeleted":false,"Disease_Name_Full__c":"Acute myeloid leukemia with CEBPA somatic mutations","Xref_IDs__c":"764855007; C4707178; C82433; DOID:0081095; MEDGEN:1640289; MONDO:0017894; ORPHA:319480","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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0017894","Disease_Description__c":"A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the <i>CEBPA</i> gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).","GARD_Name__c":"Acute myeloid leukemia with CEBPA somatic mutations","GARD_Synonym__c":"acute myeloid leukaemia with mutated cebpa; acute myeloid leukaemia with non-germline mutated cebpa; acute myeloid leukemia with ccaat/enhancer binding protein alpha somatic mutation; acute myeloid leukemia with mutated cebpa; acute myeloid leukemia with non-germline mutated cebpa; aml with cebpa somatic mutations; aml with mutated cebpa; non-familial acute myeloid leukaemia with mutated cebpa; non-familial acute myeloid leukemia with mutated cebpa","Curated_Disease_Description_Source__c":"MONDO:0017894","Curated_Disease_Description__c":"A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:319480","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017894","ORPHANET_ID__c":"ORPHA:319480","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucemia mieloide aguda con mutaciones somáticas en el gen cebpa","Spanish_Description_Source__c":"ORPHA:319480","Spanish_Description__c":"Es un subtipo de leucemia mieloide aguda con anomalías genéticas recurrentes, caracterizada por la proliferación clonal de blastos mieloides que presentan mutaciones somáticas del gen CEBPA en la médula ósea, sangre y, excepcionalmente, en otros tejidos. Se puede presentar con anemia, trombocitopenia y otros síntomas inespecíficos relacionados con hematopoyesis ineficaz (fatiga, sangrado y hematomas, infecciones recurrentes, dolor óseo) y/o afectación extramedular (gingivitis, esplenomegalia).","Spanish_Disease_Name__c":"leucemia mieloide aguda con mutaciones somáticas en el gen cebpa","Spanish_GARD_Synonym__c":"mla con mutaciones somáticas en el gen cebpa","Category_Linearization__c":"ORPHA:250908","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":"A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).","Curated_Disease_Description_Source__c":"MONDO:0017894","GARD_Synonym__c":"acute myeloid leukaemia with mutated cebpa; acute myeloid leukaemia with non-germline mutated cebpa; acute myeloid leukemia with ccaat/enhancer binding protein alpha somatic mutation; acute myeloid leukemia with mutated cebpa; acute myeloid leukemia with non-germline mutated cebpa; aml with cebpa somatic mutations; aml with mutated cebpa; non-familial acute myeloid leukaemia with mutated cebpa; non-familial acute myeloid leukemia with mutated cebpa","Name":"Acute myeloid leukemia with CEBPA somatic mutations","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"HealthTree Foundation","Website__c":"https://healthtree.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Myeloid hemopathy","Tag_Category__c":"Account","curated_tag_name":"Blood or bone marrow disease"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK47457","Source__c":"Gene Review","Xref__c":"NBK47457"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK564234","Source__c":"Gene Review","Xref__c":"NBK564234"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C82433","Source__c":"C4707178; MONDO:0017894","Xref__c":"C82433"},{"URL__c":"https://www.orpha.net/en/disease/detail/319480","Source__c":"C4707178; MONDO:0017894; ORPHA:319480","Xref__c":"ORPHA:319480"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081095","Source__c":"MONDO:0017894","Xref__c":"DOID:0081095"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764855007","Source__c":"C4707178; MONDO:0017894","Xref__c":"764855007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707178","Source__c":"C4707178","Xref__c":"C4707178"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1640289","Source__c":"C4707178","Xref__c":"MEDGEN:1640289"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017894","Source__c":"GARD:0017451","Xref__c":"MONDO:0017894"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CEBPA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cebpa","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Hematology"],"Disease Category":["Cancer","Genetics","Hematology"],"Cause":["Genetics"],"Account":["Myeloid hemopathy"]},"synonyms":["acute myeloid leukaemia with mutated cebpa"," acute myeloid leukaemia with non-germline mutated cebpa"," acute myeloid leukemia with ccaat/enhancer binding protein alpha somatic mutation"," acute myeloid leukemia with mutated cebpa"," acute myeloid leukemia with non-germline mutated cebpa"," aml with cebpa somatic mutations"," aml with mutated cebpa"," non-familial acute myeloid leukaemia with mutated cebpa"," non-familial acute myeloid leukemia with mutated cebpa"]}