{"Name":"Hairy cell leukemia","DiseaseID__c":"GARD:0006560","id":6560,"encodedName":"hairy-cell-leukemia","IsDeleted":false,"Disease_Name_Full__c":"Hairy cell leukemia","Xref_IDs__c":"118613001; 54087003; C0023443; C7402; C91.4; D007943; DOID:285; MEDGEN:9727; MONDO:0018935; ORPHA:58017","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018935","Disease_Description__c":"A rare, slowly progressive, chronic leukemia characterized by presence of abnormal B-lymphocytes (medium sized with abundant irregular pale cytoplasm, hair-like cytoplasmic projections/ruffled cytoplasmic border, a round or bean-shaped nucleus and absent nucleoli) in the blood or bone marrow, spleen and peripheral blood pancytopenia, notable monocytopenia, and marked susceptibility to infection. The characteristic immunophenotype is CD11c+, CD25+, CD103+ and CD123+ with a BRAF mutation in most cases.","GARD_Name__c":"Hairy cell leukemia","GARD_Synonym__c":"classic hairy cell leukemia; hairy cell leukemia (clinical); hcl; hcl - hairy cell leukemia; hcl-c; leukemic reticuloendotheliosis; lre - leukemic reticuloendotheliosis","Curated_Disease_Description_Source__c":"GARD:0006560","Curated_Disease_Description__c":"Hairy cell leukemia is a rare, slow-growing cancer of the blood in which the bone marrow makes too many B cells (lymphocytes), a type of white blood cell that fights infection. The condition is named after these excess B cells which look 'hairy' under a microscope. As the number of leukemia cells increases, fewer healthy white blood cells, red blood cells and platelets are produced. The symptoms include a large spleen (splenomegalia) but without an increase of lymph nodes, and general symptoms such as fever, night sweats, fatigue, weight loss. Blood exams show the decreased number of blood cells and platelets. The diagnosis can be made with the biopsy of the bone marrow, blood exams showing antigens that are released by the B-cells. The leukemia cells show an specific change (variation) in a gene involved in cell growth, the BRAF gene, that increases the growth and spread of cancer cells. The cause is still unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:58017","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018935","ORPHANET_ID__c":"ORPHA:58017","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucemia de células pilosas clásica","Spanish_Description_Source__c":"ORPHA:58017","Spanish_Description__c":"Es una leucemia crónica, poco frecuente y de progresión lenta, que se caracteriza por la presencia de linfocitos B patológicos (tamaño mediano con abundante citoplasma pálido irregular, proyecciones citoplasmáticas a modo de ''pelos''/borde citoplasmático ondulado, núcleo redondo u oval indentado y ausencia de nucléolos) en sangre o médula ósea, pancitopenia esplénica y en sangre periférica monocitopenia significativa y marcada susceptibilidad a las infecciones. El inmunofenotipo característico es CD11c+, CD25+, CD103+ y CD123+, con una mutación BRAF en la mayoría de los casos.","Spanish_Disease_Name__c":"leucemia de células pilosas clásica","Spanish_GARD_Synonym__c":"lcp-c; leucemia de células peludas clásica; reticuloendoteliosis leucémica; tricoleucemia","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":"Hairy cell leukemia is a rare, slow-growing cancer of the blood in which the bone marrow makes too many B cells (lymphocytes), a type of white blood cell that fights infection. The condition is named after these excess B cells which look 'hairy' under a microscope. As the number of leukemia cells increases, fewer healthy white blood cells, red blood cells and platelets are produced. The symptoms include a large spleen (splenomegalia) but without an increase of lymph nodes, and general symptoms such as fever, night sweats, fatigue, weight loss. Blood exams show the decreased number of blood cells and platelets. The diagnosis can be made with the biopsy of the bone marrow, blood exams showing antigens that are released by the B-cells. The leukemia cells show an specific change (variation) in a gene involved in cell growth, the BRAF gene, that increases the growth and spread of cancer cells. The cause is still unknown.","Curated_Disease_Description_Source__c":"GARD:0006560","GARD_Synonym__c":"classic hairy cell leukemia; hairy cell leukemia (clinical); hcl; hcl - hairy cell leukemia; hcl-c; leukemic reticuloendotheliosis; lre - leukemic reticuloendotheliosis","Name":"Hairy cell leukemia","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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":"Blood Cancer United","Website__c":"https://bloodcancerunited.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:58017"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0023443"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006560","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=118613001","Source__c":"C0023443; MONDO:0018935","Xref__c":"118613001"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C7402","Source__c":"C0023443; MONDO:0018935","Xref__c":"C7402"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0023443","Source__c":"C0023443","Xref__c":"C0023443"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C007943","Source__c":"C0023443; MONDO:0018935","Xref__c":"D007943"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A285","Source__c":"MONDO:0018935","Xref__c":"DOID:285"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9727","Source__c":"C0023443","Xref__c":"MEDGEN:9727"},{"URL__c":"https://www.orpha.net/en/disease/detail/58017","Source__c":"C0023443; MONDO:0018935; ORPHA:58017","Xref__c":"ORPHA:58017"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/C91.4","Source__c":"MONDO:0018935","Xref__c":"C91.4"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=54087003","Source__c":"C0023443","Xref__c":"54087003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018935","Source__c":"GARD:0006560","Xref__c":"MONDO:0018935"},{"URL__c":"https://www.cancer.gov/types/leukemia/patient/hairy-cell-treatment-pdq"},{"URL__c":"https://www.cancer.gov/types/leukemia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BRAF","GHR_URL__c":"https://medlineplus.gov/genetics/gene/braf","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Specialist":["Cancer - Oncologist","Hematology"],"Disease Category":["Cancer","Hematology"]},"synonyms":["classic hairy cell leukemia"," hairy cell leukemia (clinical)"," hcl"," hcl - hairy cell leukemia"," hcl-c"," leukemic reticuloendotheliosis"," lre - leukemic reticuloendotheliosis"],"spanishId":13464,"spanishName":"leucemia-de-celulas-pilosas"}