{"Name":"Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)","DiseaseID__c":"GARD:0012759","id":12759,"encodedName":"acute-myeloid-leukemia-with-inv3p21q262-or-t33p21q262","IsDeleted":false,"Disease_Name_Full__c":"Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)","Xref_IDs__c":"C2826172; C82426; MEDGEN:415269; MONDO:0018435; ORPHA:402020","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0018435","Disease_Description__c":"A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.","GARD_Name__c":"Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)","GARD_Synonym__c":"acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); rpn1-evi1; acute myeloid leukemia with mecom rearrangement; aml with inv3(p21;q26.2) or t(3;3)(p21;q26.2); aml with inv3(q21;q26.2) or t(3;3)(q21;q26.2)","Curated_Disease_Description_Source__c":"MONDO:0018435","Curated_Disease_Description__c":"A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:402020","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018435","ORPHANET_ID__c":"ORPHA:402020","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucemia mieloide aguda con inv(3)(q21;q26.2) o t(3;3)(q21;q26.2)","Spanish_Description_Source__c":"ORPHA:402020","Spanish_Description__c":"Es un subtipo de leucemia mieloide aguda con anomalías genéticas recurrentes caracterizada por la proliferación clonal de blastos mieloides en la médula ósea, sangre y, excepcionalmente, en otros tejidos. La médula ósea muestra típicamente megacariocitos pequeños e hipolobulados, y displasia multilinaje. Los afectados suelen presentar leucocitosis, anemia, recuento variable de plaquetas y una variedad de síntomas inespecíficos relacionados con la hematopoyesis ineficaz (fatiga, sangrado, hematomas, infecciones recurrentes, dolor de huesos) y/o afectación extramedular (gingivitis, esplenomegalia). Se ha descrito una elevada resistencia a la quimioterapia convencional.","Spanish_Disease_Name__c":"leucemia mieloide aguda con inv(3)(q21;q26.2) o t(3;3)(q21;q26.2)","Spanish_GARD_Synonym__c":"lma con inv(3)(q21;q26.2) o t(3;3)(q21;q26.2)","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 in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.","Curated_Disease_Description_Source__c":"MONDO:0018435","GARD_Synonym__c":"acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); rpn1-evi1; acute myeloid leukemia with mecom rearrangement; aml with inv3(p21;q26.2) or t(3;3)(p21;q26.2); aml with inv3(q21;q26.2) or t(3;3)(q21;q26.2)","Name":"Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012759","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/402020","Source__c":"MONDO:0018435","Xref__c":"ORPHA:402020"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=415269","Source__c":"C2826172","Xref__c":"MEDGEN:415269"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2826172","Source__c":"C2826172","Xref__c":"C2826172"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C82426","Source__c":"C2826172; MONDO:0018435","Xref__c":"C82426"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=780844005","Source__c":"C2826172","Xref__c":"780844005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018435","Source__c":"GARD:0012759","Xref__c":"MONDO:0018435"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=450929006","Source__c":"C2826172","Xref__c":"450929006"}],"tags":{"Specialist":["Cancer - Oncologist","Hematology"],"Disease Category":["Cancer","Hematology"],"Account":["Myeloid hemopathy"]},"synonyms":["acute myeloid leukemia with inv(3)(q21q26.2) or t(3","3)(q21","q26.2)"," rpn1-evi1"," acute myeloid leukemia with mecom rearrangement"," aml with inv3(p21","q26.2) or t(3","3)(p21","q26.2)"," aml with inv3(q21","q26.2) or t(3","3)(q21","q26.2)"]}