{"Name":"Acute myeloid leukemia","DiseaseID__c":"GARD:0012757","id":12757,"encodedName":"acute-myeloid-leukemia","IsDeleted":false,"Disease_Name_Full__c":"Acute myeloid leukemia","Xref_IDs__c":"1162928000; 91861009; C0023467; C3171; C92.0; D015470; DOID:9119; HP:0004808; MEDGEN:9730; MONDO:0018874; OMIM:601626; ORPHA:519","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":3,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018874","Disease_Description__c":"A group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. They manifest by fever, pallor, anemia, hemorrhages and recurrent infections.","GARD_Name__c":"Acute myeloid leukemia","GARD_Synonym__c":"acute granulocytic leukaemia; acute granulocytic leukemia; acute myeloblastic leukaemia; acute myeloblastic leukemia; acute myelocytic leukaemia; acute myelocytic leukemia; acute myelogenous leukaemia; acute myelogenous leukemia; acute myelogenous leukemias; acute myeloid leukaemia; acute myeloid leukaemia (aml); acute myeloid leukemia (aml); acute myeloid leukemia, adult; acute myeloid leukemia, disease; acute myeloid leukemia, somatic; acute non-lymphocytic leukemia; acute nonlymphocytic leukaemia; acute nonlymphocytic leukemia; aml; aml - acute myeloblastic leukemia; aml - acute myeloid leukaemia; aml - acute myeloid leukemia; aml adult; anll; familial acute myelocytic leukemia; hematopoeitic - acute myleogenous leukaemia (aml); hematopoeitic - acute myleogenous leukemia (aml); leukemia, acute myelogenous, somatic; leukemia, acute myeloid, autosomal dominant, somatic mutation; leukemia, acute myeloid, reduced survival in, somatic; leukemia, acute myeloid, somatic; leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation; leukemia, myelocytic, acute; myeloid leukemia, acute; myeloid leukemia, acute, m4/m4eo subtype, somatic","Curated_Disease_Description_Source__c":"GARD:0012757","Curated_Disease_Description__c":"Acute myeloid leukemia (AML) is a cancer that affects the blood and bone marrow. Conditions are generally called \"acute\" when they develop quickly and have an aggressive course. The signs and symptoms of AML vary but may include easy bruising; bone pain or tenderness; fatigue; fever; frequent nosebleeds; bleeding from the gums; shortness of breath; and/or weightloss. AML is one of the most common types of leukemia among adults and is rarely diagnosed in people under age 40. There are many potential causes of AML such as certain blood disorders, inherited syndromes, environmental exposures, and drug exposures; however, most people who develop AML have no identifiable risk factor.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:519","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018874","ORPHANET_ID__c":"ORPHA:519","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucemia mieloide aguda","Spanish_Description_Source__c":"ORPHA:519","Spanish_Description__c":"Es un grupo de neoplasias con origen en células precursoras comprometidas con la diferenciación de la línea celular mieloide. Todas ellas se caracterizan por la expansión clonal de blastos mieloides. Se manifiestan con fiebre, palidez, anemia, hemorragias e infecciones recurrentes.","Spanish_Disease_Name__c":"leucemia mieloide aguda","Spanish_GARD_Synonym__c":"leucemia mielógena aguda; lma","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":"Acute myeloid leukemia (AML) is a cancer that affects the blood and bone marrow. Conditions are generally called \"acute\" when they develop quickly and have an aggressive course. The signs and symptoms of AML vary but may include easy bruising; bone pain or tenderness; fatigue; fever; frequent nosebleeds; bleeding from the gums; shortness of breath; and/or weightloss. AML is one of the most common types of leukemia among adults and is rarely diagnosed in people under age 40. There are many potential causes of AML such as certain blood disorders, inherited syndromes, environmental exposures, and drug exposures; however, most people who develop AML have no identifiable risk factor.","Curated_Disease_Description_Source__c":"GARD:0012757","GARD_Synonym__c":"acute granulocytic leukaemia; acute granulocytic leukemia; acute myeloblastic leukaemia; acute myeloblastic leukemia; acute myelocytic leukaemia; acute myelocytic leukemia; acute myelogenous leukaemia; acute myelogenous leukemia; acute myelogenous leukemias; acute myeloid leukaemia; acute myeloid leukaemia (aml); acute myeloid leukemia (aml); acute myeloid leukemia, adult; acute myeloid leukemia, disease; acute myeloid leukemia, somatic; acute non-lymphocytic leukemia; acute nonlymphocytic leukaemia; acute nonlymphocytic leukemia; aml; aml - acute myeloblastic leukemia; aml - acute myeloid leukaemia; aml - acute myeloid leukemia; aml adult; anll; familial acute myelocytic leukemia; hematopoeitic - acute myleogenous leukaemia (aml); hematopoeitic - acute myleogenous leukemia (aml); leukemia, acute myelogenous, somatic; leukemia, acute myeloid, autosomal dominant, somatic mutation; leukemia, acute myeloid, reduced survival in, somatic; leukemia, acute myeloid, somatic; leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation; leukemia, myelocytic, acute; myeloid leukemia, acute; myeloid leukemia, acute, m4/m4eo subtype, somatic","Name":"Acute myeloid leukemia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Aplastic Anemia and MDS International Foundation","Website__c":"https://www.aamds.org"},{"Account_Name__c":"HealthTree Foundation","Website__c":"https://healthtree.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Blood Cancer United","Website__c":"https://bloodcancerunited.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":"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:519"}],"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://uts.nlm.nih.gov/uts/umls/concept/C0023467","Source__c":"C0023467","Xref__c":"C0023467"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=91861009","Source__c":"C0023467; MONDO:0018874","Xref__c":"91861009"},{"URL__c":"https://www.omim.org/entry/601626","Source__c":"C0023467; MONDO:0018874; ORPHA:519","Xref__c":"OMIM:601626"},{"URL__c":"https://www.orpha.net/en/disease/detail/519","Source__c":"C0023467; MONDO:0018874; ORPHA:519","Xref__c":"ORPHA:519"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9730","Source__c":"C0023467","Xref__c":"MEDGEN:9730"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9119","Source__c":"MONDO:0018874","Xref__c":"DOID:9119"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C015470","Source__c":"C0023467; MONDO:0018874","Xref__c":"D015470"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3171","Source__c":"C0023467; MONDO:0018874","Xref__c":"C3171"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0004808","Source__c":"C0023467","Xref__c":"HP:0004808"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018874","Source__c":"GARD:0012757","Xref__c":"MONDO:0018874"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/C92.0","Source__c":"MONDO:0018874","Xref__c":"C92.0"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1162928000","Source__c":"C0023467","Xref__c":"1162928000"},{"URL__c":"https://www.cancer.gov/types/leukemia/patient/adult-aml-treatment-pdq"},{"URL__c":"https://www.cancer.gov/types/leukemia"},{"URL__c":"https://medlineplus.gov/acutemyeloidleukemia.html"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C27753","Source__c":"C0023467","Xref__c":"C27753"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SH3GL1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GATA2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MLLT10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"JAK2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/jak2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RUNX1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/runx1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"LPP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CEBPA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cebpa","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FLT3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/flt3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KIT","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kit","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TERT","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tert","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DNMT3A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dnmt3a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CHIC2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NUP214","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ETV6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/etv6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PICALM","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NPM1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/npm1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KRAS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kras","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601626","Feature__r":{"HPO_Description__c":"A form of leukemia characterized by overproduction of an early myeloid cell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004808","HPO_Synonym__c":"Acute myeloblastic leukemia; Acute myelocytic leukemia; Acute myelogenous leukemia; AML","HPO_Name__c":"Acute myeloid leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Hematology","Pediatrics"],"Disease Category":["Cancer","Hematology"],"Account":["Myeloid hemopathy"]},"synonyms":["acute granulocytic leukaemia"," acute granulocytic leukemia"," acute myeloblastic leukaemia"," acute myeloblastic leukemia"," acute myelocytic leukaemia"," acute myelocytic leukemia"," acute myelogenous leukaemia"," acute myelogenous leukemia"," acute myelogenous leukemias"," acute myeloid leukaemia"," acute myeloid leukaemia (aml)"," acute myeloid leukemia (aml)"," acute myeloid leukemia, adult"," acute myeloid leukemia, disease"," acute myeloid leukemia, somatic"," acute non-lymphocytic leukemia"," acute nonlymphocytic leukaemia"," acute nonlymphocytic leukemia"," aml"," aml - acute myeloblastic leukemia"," aml - acute myeloid leukaemia"," aml - acute myeloid leukemia"," aml adult"," anll"," familial acute myelocytic leukemia"," hematopoeitic - acute myleogenous leukaemia (aml)"," hematopoeitic - acute myleogenous leukemia (aml)"," leukemia, acute myelogenous, somatic"," leukemia, acute myeloid, autosomal dominant, somatic mutation"," leukemia, acute myeloid, reduced survival in, somatic"," leukemia, acute myeloid, somatic"," leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation"," leukemia, myelocytic, acute"," myeloid leukemia, acute"," myeloid leukemia, acute, m4/m4eo subtype, somatic"]}