{"Name":"Chronic myelogenous leukemia, BCR-ABL1 positive","DiseaseID__c":"GARD:0006105","id":6105,"encodedName":"chronic-myelogenous-leukemia-bcr-abl1-positive","IsDeleted":false,"Disease_Name_Full__c":"Chronic myelogenous leukemia, BCR-ABL1 positive","Xref_IDs__c":"C0279543; C3174; C9128; DOID:0081088; DOID:8552; MEDGEN:75993; MONDO:0011996; OMIM:608232; ORPHA:521","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":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0011996","Disease_Description__c":"A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival.","GARD_Name__c":"Chronic myelogenous leukemia, BCR-ABL1 positive","GARD_Synonym__c":"bcr-abl positive chronic myelogenous leukaemia; bcr-abl positive chronic myelogenous leukemia; cgl - chronic granulocytic leukemia; chronic granulocytic leukaemia; chronic granulocytic leukemia; chronic myelocytic leukaemia; chronic myelocytic leukemia; chronic myelogenous leukaemia; chronic myelogenous leukaemia (cml); chronic myelogenous leukemia; chronic myelogenous leukemia (cml); chronic myelogenous leukemias; chronic myeloid leukaemia; chronic myeloid leukemia; chronic myeloid leukemia, disease; cml; cml - chronic myelogenous leukaemia; cml - chronic myelogenous leukemia; cml - chronic myeloid leukemia; familial chronic myelocytic leukemia; hematopoeitic - chronic myelocytic leukaemia (cml); hematopoeitic - chronic myelocytic leukemia (cml); leukemia, chronic myeloid, philadelphia chromosome positive, somatic; leukemia, philadelphia chromosome-positive, resistant to imatinib, somatic mutation; myeloid leukemia, chronic; philadelphia chromosome positive chronic myelogenous leukemia","Curated_Disease_Description_Source__c":"MONDO:0011996","Curated_Disease_Description__c":"Chronic myeloid leukemia is a slow-growing cancer of the blood-forming tissue (bone marrow). Normal bone marrow produces red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In chronic myeloid leukemia, the bone marrow produces too many white blood cells. Initially, these cells function relatively normally. However, as the condition progresses, immature white blood cells called myeloblasts (or blasts) accumulate in the blood and bone marrow. The overgrowth of myeloblasts impairs development of other blood cells, leading to a shortage of red blood cells (anemia) and platelets. Chronic myeloid leukemia usually begins after age 60. Common features include excessive tiredness (fatigue), fever, and weight loss. Many affected individuals develop an enlarged spleen (splenomegaly), which can cause a feeling of fullness in the abdomen and a loss of appetite. About half of people with chronic myeloid leukemia do not initially have any signs and symptoms and are diagnosed when a blood test is performed for another reason. The condition consists of three phases: the chronic phase, the accelerated phase, and the blast phase (or blast crisis). In the chronic phase, the number of mature white blood cells is elevated, and myeloblasts account for less than 10 percent of blood cells. Signs and symptoms of the condition during this phase are typically mild or absent and worsen slowly. The chronic phase can last from months to years. In the accelerated phase, the number of myeloblasts is slightly higher, making up 10 to 29 percent of blood cells. The signs and symptoms continue to worsen. The accelerated phase usually lasts 4 to 6 months, although it is skipped in some affected individuals. In blast crisis, 30 percent or more of blood or bone marrow cells are myeloblasts. Signs and symptoms are most severe in this phase, including a massively enlarged spleen, bone pain, and weight loss. Serious infections and uncontrolled bleeding can be life-threatening.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:521","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011996","ORPHANET_ID__c":"ORPHA:521","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucemia mieloide crónica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"leucemia mieloide crónica","Spanish_GARD_Synonym__c":"leucemia granulocítica crónica; leucemia mielógena crónica; lmc","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":"Chronic myeloid leukemia is a slow-growing cancer of the blood-forming tissue (bone marrow). Normal bone marrow produces red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In chronic myeloid leukemia, the bone marrow produces too many white blood cells. Initially, these cells function relatively normally. However, as the condition progresses, immature white blood cells called myeloblasts (or blasts) accumulate in the blood and bone marrow. The overgrowth of myeloblasts impairs development of other blood cells, leading to a shortage of red blood cells (anemia) and platelets. Chronic myeloid leukemia usually begins after age 60. Common features include excessive tiredness (fatigue), fever, and weight loss. Many affected individuals develop an enlarged spleen (splenomegaly), which can cause a feeling of fullness in the abdomen and a loss of appetite. About half of people with chronic myeloid leukemia do not initially have any signs and symptoms and are diagnosed when a blood test is performed for another reason. The condition consists of three phases: the chronic phase, the accelerated phase, and the blast phase (or blast crisis). In the chronic phase, the number of mature white blood cells is elevated, and myeloblasts account for less than 10 percent of blood cells. Signs and symptoms of the condition during this phase are typically mild or absent and worsen slowly. The chronic phase can last from months to years. In the accelerated phase, the number of myeloblasts is slightly higher, making up 10 to 29 percent of blood cells. The signs and symptoms continue to worsen. The accelerated phase usually lasts 4 to 6 months, although it is skipped in some affected individuals. In blast crisis, 30 percent or more of blood or bone marrow cells are myeloblasts. Signs and symptoms are most severe in this phase, including a massively enlarged spleen, bone pain, and weight loss. Serious infections and uncontrolled bleeding can be life-threatening.","Curated_Disease_Description_Source__c":"MONDO:0011996","GARD_Synonym__c":"bcr-abl positive chronic myelogenous leukaemia; bcr-abl positive chronic myelogenous leukemia; cgl - chronic granulocytic leukemia; chronic granulocytic leukaemia; chronic granulocytic leukemia; chronic myelocytic leukaemia; chronic myelocytic leukemia; chronic myelogenous leukaemia; chronic myelogenous leukaemia (cml); chronic myelogenous leukemia; chronic myelogenous leukemia (cml); chronic myelogenous leukemias; chronic myeloid leukaemia; chronic myeloid leukemia; chronic myeloid leukemia, disease; cml; cml - chronic myelogenous leukaemia; cml - chronic myelogenous leukemia; cml - chronic myeloid leukemia; familial chronic myelocytic leukemia; hematopoeitic - chronic myelocytic leukaemia (cml); hematopoeitic - chronic myelocytic leukemia (cml); leukemia, chronic myeloid, philadelphia chromosome positive, somatic; leukemia, philadelphia chromosome-positive, resistant to imatinib, somatic mutation; myeloid leukemia, chronic; philadelphia chromosome positive chronic myelogenous leukemia","Name":"Chronic myelogenous leukemia, BCR-ABL1 positive","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"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":"Blood Cancer United","Website__c":"https://bloodcancerunited.org/"},{"Account_Name__c":"National CML Society","Website__c":"https://www.nationalcmlsociety.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":"Adolescent","Provided_By__c":"ORPHA:521"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:521"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:521"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:521"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0023473"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006105","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/521","Source__c":"C0279543; MONDO:0011996; ORPHA:521","Xref__c":"ORPHA:521"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75993","Source__c":"C0279543","Xref__c":"MEDGEN:75993"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081088","Source__c":"MONDO:0011996","Xref__c":"DOID:0081088"},{"URL__c":"https://www.omim.org/entry/608232","Source__c":"C0279543; MONDO:0011996; ORPHA:521","Xref__c":"OMIM:608232"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3174","Source__c":"MONDO:0011996","Xref__c":"C3174"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8552","Source__c":"MONDO:0011996","Xref__c":"DOID:8552"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0279543","Source__c":"C0279543","Xref__c":"C0279543"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C015464","Source__c":"C0279543","Xref__c":"D015464"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011996","Source__c":"GARD:0006105","Xref__c":"MONDO:0011996"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=92818009","Source__c":"C0279543","Xref__c":"92818009"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1162588009","Source__c":"C0279543","Xref__c":"1162588009"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0005506","Source__c":"C0279543","Xref__c":"HP:0005506"},{"URL__c":"https://www.cancer.gov/types/leukemia/patient/cml-treatment-pdq"},{"URL__c":"https://www.cancer.gov/types/leukemia"},{"URL__c":"https://medlineplus.gov/chronicmyeloidleukemia.html"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C9128","Source__c":"C0279543","Xref__c":"C9128"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BCR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/bcr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ABL1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abl1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural abnormality or abnormal count of basophils.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001912","HPO_Synonym__c":"Abnormality of basophils","HPO_Name__c":"Abnormal basophil morphology","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced desire to eat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004396","HPO_Synonym__c":"Decreased appetite; Loss of appetite; Poor appetite","HPO_Name__c":"Poor appetite","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural abnormality or abnormal count of granulocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001911","HPO_Synonym__c":"Abnormality of granulocytes","HPO_Name__c":"Abnormal granulocyte morphology","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased numbers of platelets in the peripheral blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001894","HPO_Synonym__c":"Increased number of platelets in blood; Increased platelet count","HPO_Name__c":"Thrombocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005547","HPO_Name__c":"Myeloproliferative disorder","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the hematopoietic system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001871","HPO_Synonym__c":"Abnormality of blood and blood-forming tissues; Abnormality of the hematopoietic system; Hematological abnormality","HPO_Name__c":"Abnormality of blood and blood-forming tissues","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:521","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Hematology","Pediatrics"],"Disease Category":["Cancer","Hematology"],"Account":["Myeloid hemopathy"]},"synonyms":["bcr-abl positive chronic myelogenous leukaemia"," bcr-abl positive chronic myelogenous leukemia"," cgl - chronic granulocytic leukemia"," chronic granulocytic leukaemia"," chronic granulocytic leukemia"," chronic myelocytic leukaemia"," chronic myelocytic leukemia"," chronic myelogenous leukaemia"," chronic myelogenous leukaemia (cml)"," chronic myelogenous leukemia"," chronic myelogenous leukemia (cml)"," chronic myelogenous leukemias"," chronic myeloid leukaemia"," chronic myeloid leukemia"," chronic myeloid leukemia, disease"," cml"," cml - chronic myelogenous leukaemia"," cml - chronic myelogenous leukemia"," cml - chronic myeloid leukemia"," familial chronic myelocytic leukemia"," hematopoeitic - chronic myelocytic leukaemia (cml)"," hematopoeitic - chronic myelocytic leukemia (cml)"," leukemia, chronic myeloid, philadelphia chromosome positive, somatic"," leukemia, philadelphia chromosome-positive, resistant to imatinib, somatic mutation"," myeloid leukemia, chronic"," philadelphia chromosome positive chronic myelogenous leukemia"]}