{"Name":"B-cell chronic lymphocytic leukemia","DiseaseID__c":"GARD:0006104","id":6104,"encodedName":"b-cell-chronic-lymphocytic-leukemia","IsDeleted":false,"Disease_Name_Full__c":"B-cell chronic lymphocytic leukemia","Xref_IDs__c":"C0023434; C3163; C91.1; D015451; DOID:1040; MEDGEN:44120; MONDO:0004948; OMIM:151400; ORPHA:67038","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":3,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0004948","Disease_Description__c":"B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.","GARD_Name__c":"B-cell chronic lymphocytic leukemia","GARD_Synonym__c":"b cell chronic lymphocytic leukaemia; b cell chronic lymphocytic leukemia; b cell cll; b cell lymphocytic leukaemia; b cell lymphocytic leukemia; b-cell chronic lymphocytic leukemia/small lymphocytic lymphoma; b-cell chronic lymphogenous leukaemia; b-cell chronic lymphogenous leukemia; b-cell chronic lymphoid leukaemia; b-cell chronic lymphoid leukemia; b-cell cll; b-cell cll/sll (chronic lymphocytic leukemia/small lymphocytic lymphoma); b-cell lymphocytic leukaemia; b-cell lymphocytic leukemia; b-cll; bcll; chronic b-cell lymphocytic leukaemia; chronic b-cell lymphocytic leukemia; chronic lymphatic leukaemia; chronic lymphatic leukemia; chronic lymphocytic leukaemia; chronic lymphocytic leukaemia (cll); chronic lymphocytic leukemia; chronic lymphocytic leukemia (cll); chronic lymphocytic leukemia, b-cell type; chronic lymphogenous leukaemia; chronic lymphogenous leukemia; chronic lymphoid leukemia; chronic lymphoid leukemia, disease; cll; cll - chronic lymphocytic leukemia; familial chronic lymphocytic leukemia; hematopoeitic - chronic lymphocytic leukaemia (cll); hematopoeitic - chronic lymphocytic leukemia (cll); leukemia, b-cell, chronic; lymphoplasmacytic leukaemia; lymphoplasmacytic leukemia; malignant lymphoma lymphocytic well differentiated diffuse; small lymphocytic lymphoma","Curated_Disease_Description_Source__c":"GARD:0006104","Curated_Disease_Description__c":"B-cell chronic lymphocytic leukemia is a type of cancer of the white blood cells (lymphocytes). Early signs and symptoms may include swollen lymph nodes, fatigue, weight loss, fever, night sweats and/or frequent infections. Over time, B-cell chronic lymphocytic leukemia may also spread to the lymph nodes and other organs, including the liver, spleen and lungs. The underlying cause is thought to be a combination of genetic and other unknown factors. It usually occurs in people with no family history of the condition, but familial cases have been reported. B-cell chronic lymphocytic leukemia is diagnosed based on the symptoms and various blood tests.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:67038","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0004948","ORPHANET_ID__c":"ORPHA:67038","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucemia linfocítica crónica de células b","Spanish_Description_Source__c":"ORPHA:67038","Spanish_Description__c":"Es un tipo de linfoma no Hodgkin de células B y la forma más común de leucemia en los países occidentales, presentándose en la edad adulta tardía (67-72 años de promedio) con un ligero predominio masculino (1,7: 1). Está caracterizada por una presentación clínica muy variable que puede incluir enfermedad asintomática o síntomas B inespecíficos, tales como pérdida de peso involuntaria, fatiga, fiebre (sin evidencia de infección) y sudores nocturnos, así como linfadenopatía cervical, esplenomegalia e infecciones frecuentes. Algunos afectados también pueden desarrollar complicaciones autoinmunes, tales como anemia hemolítica autoinmune o trombocitopenia inmune. El curso clínico es extremadamente heterogéneo, con una supervivencia que varía desde unos pocos meses hasta varias décadas.","Spanish_Disease_Name__c":"leucemia linfocítica crónica de células b","Spanish_GARD_Synonym__c":"b-cll; cll; cll/sll; leucemia linfoide crónica; leucemia linfoide crónica de células b; linfoma linfocítico de células pequeñas; llc; llc-b; llc/llcp","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":"B-cell chronic lymphocytic leukemia is a type of cancer of the white blood cells (lymphocytes). Early signs and symptoms may include swollen lymph nodes, fatigue, weight loss, fever, night sweats and/or frequent infections. Over time, B-cell chronic lymphocytic leukemia may also spread to the lymph nodes and other organs, including the liver, spleen and lungs. The underlying cause is thought to be a combination of genetic and other unknown factors. It usually occurs in people with no family history of the condition, but familial cases have been reported. B-cell chronic lymphocytic leukemia is diagnosed based on the symptoms and various blood tests.","Curated_Disease_Description_Source__c":"GARD:0006104","GARD_Synonym__c":"b cell chronic lymphocytic leukaemia; b cell chronic lymphocytic leukemia; b cell cll; b cell lymphocytic leukaemia; b cell lymphocytic leukemia; b-cell chronic lymphocytic leukemia/small lymphocytic lymphoma; b-cell chronic lymphogenous leukaemia; b-cell chronic lymphogenous leukemia; b-cell chronic lymphoid leukaemia; b-cell chronic lymphoid leukemia; b-cell cll; b-cell cll/sll (chronic lymphocytic leukemia/small lymphocytic lymphoma); b-cell lymphocytic leukaemia; b-cell lymphocytic leukemia; b-cll; bcll; chronic b-cell lymphocytic leukaemia; chronic b-cell lymphocytic leukemia; chronic lymphatic leukaemia; chronic lymphatic leukemia; chronic lymphocytic leukaemia; chronic lymphocytic leukaemia (cll); chronic lymphocytic leukemia; chronic lymphocytic leukemia (cll); chronic lymphocytic leukemia, b-cell type; chronic lymphogenous leukaemia; chronic lymphogenous leukemia; chronic lymphoid leukemia; chronic lymphoid leukemia, disease; cll; cll - chronic lymphocytic leukemia; familial chronic lymphocytic leukemia; hematopoeitic - chronic lymphocytic leukaemia (cll); hematopoeitic - chronic lymphocytic leukemia (cll); leukemia, b-cell, chronic; lymphoplasmacytic leukaemia; lymphoplasmacytic leukemia; malignant lymphoma lymphocytic well differentiated diffuse; small lymphocytic lymphoma","Name":"B-cell chronic lymphocytic leukemia","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"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":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Lymphoma Research Foundation","Website__c":"https://lymphoma.org/"},{"Account_Name__c":"Blood Cancer United","Website__c":"https://bloodcancerunited.org/"},{"Account_Name__c":"Leukaemia Foundation","Website__c":"https://www.leukaemia.org.au/"},{"Account_Name__c":"CLL Society","Website__c":"https://cllsociety.org/"},{"Account_Name__c":"Lymphoma Coalition","Website__c":"https://lymphomacoalition.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":"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:67038"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0023434"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006104","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C015451","Source__c":"C0023434; MONDO:0004948","Xref__c":"D015451"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0023434","Source__c":"C0023434","Xref__c":"C0023434"},{"URL__c":"https://www.orpha.net/en/disease/detail/67038","Source__c":"C0023434; MONDO:0004948; ORPHA:67038","Xref__c":"ORPHA:67038"},{"URL__c":"https://www.omim.org/entry/151400","Source__c":"C0023434; MONDO:0004948; ORPHA:67038","Xref__c":"OMIM:151400"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3163","Source__c":"C0023434; MONDO:0004948","Xref__c":"C3163"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1040","Source__c":"MONDO:0004948","Xref__c":"DOID:1040"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=44120","Source__c":"C0023434","Xref__c":"MEDGEN:44120"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0004948","Source__c":"GARD:0006104","Xref__c":"MONDO:0004948"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=51092000","Source__c":"C0023434","Xref__c":"51092000"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0005550","Source__c":"C0023434","Xref__c":"HP:0005550"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=92814006","Source__c":"C0023434","Xref__c":"92814006"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/C91.1","Source__c":"MONDO:0004948","Xref__c":"C91.1"},{"URL__c":"https://www.cancer.gov/types/leukemia/patient/cll-treatment-pdq"},{"URL__c":"https://www.cancer.gov/types/leukemia"},{"URL__c":"https://medlineplus.gov/chroniclymphocyticleukemia.html"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IKZF3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TP53","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tp53","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ATM","GHR_URL__c":"https://medlineplus.gov/genetics/gene/atm","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"POT1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RPS15","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:151400","Feature__r":{"HPO_Description__c":"A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005550","HPO_Synonym__c":"Chronic lymphocytic leukemia","HPO_Name__c":"Chronic lymphatic leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:151400","Feature__r":{"HPO_Description__c":"An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005374","HPO_Name__c":"Cellular immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Hematology"],"Disease Category":["Cancer","Hematology"]},"synonyms":["b cell chronic lymphocytic leukaemia"," b cell chronic lymphocytic leukemia"," b cell cll"," b cell lymphocytic leukaemia"," b cell lymphocytic leukemia"," b-cell chronic lymphocytic leukemia/small lymphocytic lymphoma"," b-cell chronic lymphogenous leukaemia"," b-cell chronic lymphogenous leukemia"," b-cell chronic lymphoid leukaemia"," b-cell chronic lymphoid leukemia"," b-cell cll"," b-cell cll/sll (chronic lymphocytic leukemia/small lymphocytic lymphoma)"," b-cell lymphocytic leukaemia"," b-cell lymphocytic leukemia"," b-cll"," bcll"," chronic b-cell lymphocytic leukaemia"," chronic b-cell lymphocytic leukemia"," chronic lymphatic leukaemia"," chronic lymphatic leukemia"," chronic lymphocytic leukaemia"," chronic lymphocytic leukaemia (cll)"," chronic lymphocytic leukemia"," chronic lymphocytic leukemia (cll)"," chronic lymphocytic leukemia, b-cell type"," chronic lymphogenous leukaemia"," chronic lymphogenous leukemia"," chronic lymphoid leukemia"," chronic lymphoid leukemia, disease"," cll"," cll - chronic lymphocytic leukemia"," familial chronic lymphocytic leukemia"," hematopoeitic - chronic lymphocytic leukaemia (cll)"," hematopoeitic - chronic lymphocytic leukemia (cll)"," leukemia, b-cell, chronic"," lymphoplasmacytic leukaemia"," lymphoplasmacytic leukemia"," malignant lymphoma lymphocytic well differentiated diffuse"," small lymphocytic lymphoma"]}