{"Name":"Acute megakaryoblastic leukemia","DiseaseID__c":"GARD:0000524","id":524,"encodedName":"acute-megakaryoblastic-leukemia","IsDeleted":false,"Disease_Name_Full__c":"Acute megakaryoblastic leukemia","Xref_IDs__c":"277602003; 52220008; C0023462; C3170; C94.2; D007947; DOID:8761; MEDGEN:44124; MONDO:0018872; ORPHA:518","USA_Estimate__c":"1,000","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":"1 to 8,000","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":2,"Description_Source__c":"MONDO:0018872","Disease_Description__c":"A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.","GARD_Name__c":"Acute megakaryoblastic leukemia","GARD_Synonym__c":"acute m7 myeloid leukaemia; acute m7 myeloid leukemia; acute megakaryoblastic leukaemia (fab type m7); acute megakaryoblastic leukemia (fab type m7); acute megakaryoblastic leukemia, fab m7; acute megakaryoblastic leukemia, morphology; acute megakaryocytic leukaemia; acute megakaryocytic leukemia; acute megakaryocytic leukemias; acute myeloid leukaemia m7; acute myeloid leukemia m7; amegl; amkl; aml m7; fab m7; leukemia, megakaryocytic, malignant; m7 - acute megakaryoblastic leukemia; malignant megakaryocytosis; megakaryoblastic leukemia; megakaryocytic leukemia; megakaryocytic myelosis; thrombocytic leukaemia; thrombocytic leukemia","Curated_Disease_Description_Source__c":"MONDO:0018872","Curated_Disease_Description__c":"A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as an Adult","SourceID__c":"ORPHA:518","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018872","ORPHANET_ID__c":"ORPHA:518","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucemia megacarioblástica aguda","Spanish_Description_Source__c":"ORPHA:518","Spanish_Description__c":"Es una forma de leucemia mieloide aguda (AML) que ocurre predominantemente en la infancia y, en particular, en niños con síndrome de Down (DS-AMKL). Los síntomas inespecíficos pueden incluir irritabilidad, debilidad y mareos, mientras que los síntomas específicos incluyen palidez, fiebre, sangrado mucocutáneo, hepatoesplenomegalia, manifestaciones neurológicas y, excepcionalmente, linfadenopatía. La panmelosis aguda con mielofibrosis también se puede asociar a este tipo de leucemia. En contraste con la DS-AMKL (alrededor del 80% de supervivencia), la AMKL no-DS es un subgrupo de AML asociado a un pronóstico desfavorable.","Spanish_Disease_Name__c":"leucemia megacarioblástica aguda","Spanish_GARD_Synonym__c":"amkl; leucemia mieloblástica aguda tipo 7","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 rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.","Curated_Disease_Description_Source__c":"MONDO:0018872","GARD_Synonym__c":"acute m7 myeloid leukaemia; acute m7 myeloid leukemia; acute megakaryoblastic leukaemia (fab type m7); acute megakaryoblastic leukemia (fab type m7); acute megakaryoblastic leukemia, fab m7; acute megakaryoblastic leukemia, morphology; acute megakaryocytic leukaemia; acute megakaryocytic leukemia; acute megakaryocytic leukemias; acute myeloid leukaemia m7; acute myeloid leukemia m7; amegl; amkl; aml m7; fab m7; leukemia, megakaryocytic, malignant; m7 - acute megakaryoblastic leukemia; malignant megakaryocytosis; megakaryoblastic leukemia; megakaryocytic leukemia; megakaryocytic myelosis; thrombocytic leukaemia; thrombocytic leukemia","Name":"Acute megakaryoblastic leukemia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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":"Leukaemia Foundation","Website__c":"https://www.leukaemia.org.au/"}],"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":"Childhood","Provided_By__c":"ORPHA:518"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:518"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0023462"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3170","Source__c":"C0023462; MONDO:0018872","Xref__c":"C3170"},{"URL__c":"https://www.orpha.net/en/disease/detail/518","Source__c":"C0023462; MONDO:0018872; ORPHA:518","Xref__c":"ORPHA:518"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C007947","Source__c":"C0023462; MONDO:0018872","Xref__c":"D007947"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8761","Source__c":"MONDO:0018872","Xref__c":"DOID:8761"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=277602003","Source__c":"C0023462; MONDO:0018872","Xref__c":"277602003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=44124","Source__c":"C0023462","Xref__c":"MEDGEN:44124"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0023462","Source__c":"C0023462","Xref__c":"C0023462"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=52220008","Source__c":"C0023462","Xref__c":"52220008"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0006733","Source__c":"C0023462","Xref__c":"HP:0006733"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=188754005","Source__c":"C0023462","Xref__c":"188754005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018872","Source__c":"GARD:0000524","Xref__c":"MONDO:0018872"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/C94.2","Source__c":"MONDO:0018872","Xref__c":"C94.2"}],"tags":{"Specialist":["Cancer - Oncologist","Hematology","Pediatrics"],"Disease Category":["Cancer","Hematology"],"Account":["Myeloid hemopathy"]},"synonyms":["acute m7 myeloid leukaemia"," acute m7 myeloid leukemia"," acute megakaryoblastic leukaemia (fab type m7)"," acute megakaryoblastic leukemia (fab type m7)"," acute megakaryoblastic leukemia, fab m7"," acute megakaryoblastic leukemia, morphology"," acute megakaryocytic leukaemia"," acute megakaryocytic leukemia"," acute megakaryocytic leukemias"," acute myeloid leukaemia m7"," acute myeloid leukemia m7"," amegl"," amkl"," aml m7"," fab m7"," leukemia, megakaryocytic, malignant"," m7 - acute megakaryoblastic leukemia"," malignant megakaryocytosis"," megakaryoblastic leukemia"," megakaryocytic leukemia"," megakaryocytic myelosis"," thrombocytic leukaemia"," thrombocytic leukemia"]}