{"Name":"Inherited acute myeloid leukemia","DiseaseID__c":"GARD:0017450","id":17450,"encodedName":"inherited-acute-myeloid-leukemia","IsDeleted":false,"Disease_Name_Full__c":"Inherited acute myeloid leukemia","Xref_IDs__c":"764940002; C4707228; C7175; MEDGEN:1634915; MONDO:0017893; ORPHA:319465","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0017893","Disease_Description__c":"An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome.","GARD_Name__c":"Inherited acute myeloid leukemia","GARD_Synonym__c":"familial aml; hereditary acute myeloid leukaemia; hereditary acute myeloid leukemia; inherited aml; pure familial acute myeloid leukaemia; pure familial acute myeloid leukemia; pure familial aml","Curated_Disease_Description_Source__c":"ORPHA:319465","Curated_Disease_Description__c":"Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:319465","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017893","ORPHANET_ID__c":"ORPHA:319465","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucemia mieloide aguda hereditaria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"leucemia mieloide aguda hereditaria","Spanish_GARD_Synonym__c":"leucemia mieloide aguda familiar pura; mla familiar; mla familiar pura; mla hereditaria","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":"Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.","Curated_Disease_Description_Source__c":"ORPHA:319465","GARD_Synonym__c":"familial aml; hereditary acute myeloid leukaemia; hereditary acute myeloid leukemia; inherited aml; pure familial acute myeloid leukaemia; pure familial acute myeloid leukemia; pure familial aml","Name":"Inherited acute myeloid leukemia","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://www.ncbi.nlm.nih.gov/medgen/?term=1634915","Source__c":"C4707228","Xref__c":"MEDGEN:1634915"},{"URL__c":"https://www.orpha.net/en/disease/detail/319465","Source__c":"C4707228; MONDO:0017893; ORPHA:319465","Xref__c":"ORPHA:319465"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764940002","Source__c":"C4707228; MONDO:0017893","Xref__c":"764940002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707228","Source__c":"C4707228","Xref__c":"C4707228"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C7175","Source__c":"MONDO:0017893","Xref__c":"C7175"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017893","Source__c":"GARD:0017450","Xref__c":"MONDO:0017893"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TGM6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ERCC6L2","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}],"Inheritance__c":["Autosomal dominant"],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Hematology"],"Disease Category":["Cancer","Genetics","Hematology"],"Cause":["Genetics"],"Account":["Myeloid hemopathy"]},"synonyms":["familial aml"," hereditary acute myeloid leukaemia"," hereditary acute myeloid leukemia"," inherited aml"," pure familial acute myeloid leukaemia"," pure familial acute myeloid leukemia"," pure familial aml"]}