{"Name":"Myeloid neoplasm associated with FGFR1 rearrangement","DiseaseID__c":"GARD:0017043","id":17043,"encodedName":"myeloid-neoplasm-associated-with-fgfr1-rearrangement","IsDeleted":false,"Disease_Name_Full__c":"Myeloid neoplasm associated with FGFR1 rearrangement","Xref_IDs__c":"C3150773; C84277; DOID:0080167; MEDGEN:462123; MONDO:0013296; OMIM:613523; ORPHA:168953","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":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0013296","Disease_Description__c":"Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype.","GARD_Name__c":"Myeloid neoplasm associated with FGFR1 rearrangement","GARD_Synonym__c":"8p11 myeloproliferative syndrome; 8p11 stem cell leukemia/lymphoma syndrome; 8p11 stem cell syndrome; chromosome 8p11 myeloproliferative syndrome; myeloid and lymphoid neoplasm with fgfr1 abnormality; myeloid and lymphoid neoplasm with fibroblast growth factor receptor 1 abnormality; myeloid and lymphoid neoplasms associated with fgfr1 abnormalities; myeloid and lymphoid neoplasms with fgfr1 rearrangement; myeloid-lymphoid neoplasm with fgfr1 rearrangement; myeloid/lymphoid neoplasm associated with fgfr1 rearrangement; myeloid/lymphoid neoplasm with fgfr1 rearrangement; myeloid/lymphoid neoplasm with fibroblast growth factor receptor 1 abnormality; myeloid/lymphoid neoplasms with fgfr1 rearrangement; stem cell leukemia/lymphoma","Curated_Disease_Description_Source__c":"MONDO:0013296","Curated_Disease_Description__c":"8p11 myeloproliferative syndrome is a blood cancer that involves different types of blood cells. Blood cells are divided into several groups (lineages) based on the type of early cell from which they are descended. Two of these lineages are myeloid cells and lymphoid cells. Individuals with 8p11 myeloproliferative syndrome can develop both myeloid cell cancer and lymphoid cell cancer. The condition can occur at any age. It usually begins as a myeloproliferative disorder, which is characterized by a high number of white blood cells (leukocytes). Most affected individuals also have an excess of myeloid cells known as eosinophils (eosinophilia). In addition to a myeloproliferative disorder, many people with 8p11 myeloproliferative syndrome develop lymphoma, which is a form of blood cancer that involves lymphoid cells. The cancerous lymphoid cells grow and divide in lymph nodes, forming a tumor that enlarges the lymph nodes. In most cases of 8p11 myeloproliferative syndrome, the cancerous cells are lymphoid cells called T cells. Lymphoma can develop at the same time as the myeloproliferative disorder or later. In most people with 8p11 myeloproliferative syndrome, the myeloproliferative disorder develops into a fast-growing blood cancer called acute myeloid leukemia. The rapid myeloid and lymphoid cell production caused by these cancers results in enlargement of the spleen and liver (splenomegaly and hepatomegaly, respectively). Most people with 8p11 myeloproliferative syndrome have symptoms such as fatigue or night sweats. Some affected individuals have no symptoms, and the condition is discovered through routine blood tests.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:168953","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013296","ORPHANET_ID__c":"ORPHA:168953","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neoplasia mieloide/linfoide asociada a un reordenamiento del gen fgfr1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"neoplasia mieloide/linfoide asociada a un reordenamiento del gen fgfr1","Spanish_GARD_Synonym__c":"leucemia/linfoma de células madre; síndrome 8p11 mieloproliferativo; síndrome mieloproliferativo 8p11","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":"8p11 myeloproliferative syndrome is a blood cancer that involves different types of blood cells. Blood cells are divided into several groups (lineages) based on the type of early cell from which they are descended. Two of these lineages are myeloid cells and lymphoid cells. Individuals with 8p11 myeloproliferative syndrome can develop both myeloid cell cancer and lymphoid cell cancer. The condition can occur at any age. It usually begins as a myeloproliferative disorder, which is characterized by a high number of white blood cells (leukocytes). Most affected individuals also have an excess of myeloid cells known as eosinophils (eosinophilia). In addition to a myeloproliferative disorder, many people with 8p11 myeloproliferative syndrome develop lymphoma, which is a form of blood cancer that involves lymphoid cells. The cancerous lymphoid cells grow and divide in lymph nodes, forming a tumor that enlarges the lymph nodes. In most cases of 8p11 myeloproliferative syndrome, the cancerous cells are lymphoid cells called T cells. Lymphoma can develop at the same time as the myeloproliferative disorder or later. In most people with 8p11 myeloproliferative syndrome, the myeloproliferative disorder develops into a fast-growing blood cancer called acute myeloid leukemia. The rapid myeloid and lymphoid cell production caused by these cancers results in enlargement of the spleen and liver (splenomegaly and hepatomegaly, respectively). Most people with 8p11 myeloproliferative syndrome have symptoms such as fatigue or night sweats. Some affected individuals have no symptoms, and the condition is discovered through routine blood tests.","Curated_Disease_Description_Source__c":"MONDO:0013296","GARD_Synonym__c":"8p11 myeloproliferative syndrome; 8p11 stem cell leukemia/lymphoma syndrome; 8p11 stem cell syndrome; chromosome 8p11 myeloproliferative syndrome; myeloid and lymphoid neoplasm with fgfr1 abnormality; myeloid and lymphoid neoplasm with fibroblast growth factor receptor 1 abnormality; myeloid and lymphoid neoplasms associated with fgfr1 abnormalities; myeloid and lymphoid neoplasms with fgfr1 rearrangement; myeloid-lymphoid neoplasm with fgfr1 rearrangement; myeloid/lymphoid neoplasm associated with fgfr1 rearrangement; myeloid/lymphoid neoplasm with fgfr1 rearrangement; myeloid/lymphoid neoplasm with fibroblast growth factor receptor 1 abnormality; myeloid/lymphoid neoplasms with fgfr1 rearrangement; stem cell leukemia/lymphoma","Name":"Myeloid neoplasm associated with FGFR1 rearrangement","estimateUsa":""}],"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://www.orpha.net/en/disease/detail/168953","Source__c":"C3150773; MONDO:0013296; ORPHA:168953","Xref__c":"ORPHA:168953"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3150773","Source__c":"C3150773","Xref__c":"C3150773"},{"URL__c":"https://www.omim.org/entry/613523","Source__c":"C3150773; MONDO:0013296; ORPHA:168953","Xref__c":"OMIM:613523"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84277","Source__c":"C3150773; MONDO:0013296","Xref__c":"C84277"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462123","Source__c":"C3150773","Xref__c":"MEDGEN:462123"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=450942006","Source__c":"C3150773","Xref__c":"450942006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013296","Source__c":"GARD:0017043","Xref__c":"MONDO:0013296"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080167","Source__c":"MONDO:0013296","Xref__c":"DOID:0080167"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721301004","Source__c":"C3150773","Xref__c":"721301004"},{"URL__c":"https://medlineplus.gov/genetics/condition/8p11-myeloproliferative-syndrome"},{"URL__c":"https://medlineplus.gov/genetics/condition/8p11-myeloproliferative-syndrome","Source__c":"GARD:0017043","Xref__c":"https://medlineplus.gov/genetics/condition/8p11-myeloproliferative-syndrome"}],"tags":{"Specialist":["Cancer - Oncologist","Hematology"],"Disease Category":["Cancer","Hematology"],"Account":["Myeloid hemopathy"]},"synonyms":["8p11 myeloproliferative syndrome"," 8p11 stem cell leukemia/lymphoma syndrome"," 8p11 stem cell syndrome"," chromosome 8p11 myeloproliferative syndrome"," myeloid and lymphoid neoplasm with fgfr1 abnormality"," myeloid and lymphoid neoplasm with fibroblast growth factor receptor 1 abnormality"," myeloid and lymphoid neoplasms associated with fgfr1 abnormalities"," myeloid and lymphoid neoplasms with fgfr1 rearrangement"," myeloid-lymphoid neoplasm with fgfr1 rearrangement"," myeloid/lymphoid neoplasm associated with fgfr1 rearrangement"," myeloid/lymphoid neoplasm with fgfr1 rearrangement"," myeloid/lymphoid neoplasm with fibroblast growth factor receptor 1 abnormality"," myeloid/lymphoid neoplasms with fgfr1 rearrangement"," stem cell leukemia/lymphoma"]}