Disease: Erdheim-Chester Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE After extensive investigation of the elusive diagnosis, repeating of a molecular test using polymerase chain reaction analysis allowed for identification of a mutation (BRAF V600) ultimately leading to the diagnosis of Erdheim-Chester disease. 31538800 2020
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE The <i>BRAF</i><sup>V600E</sup> mutation and BRAF inhibitor responsiveness characterize ∼50% of patients with the non-Langerhans cell histiocytosis (non-LCH) Erdheim-Chester disease (ECD). 31015311 2019
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE BRAF V600E mutations are not an oncogenic driver of solitary xanthogranuloma and reticulohistiocytoma: Testing may be useful in screening for Erdheim-Chester disease. 31639332 2019
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 Biomarker disease BEFREE Vemurafenib for BRAF V600-Mutant Erdheim-Chester Disease and Langerhans Cell Histiocytosis: Analysis of Data From the Histology-Independent, Phase 2, Open-label VE-BASKET Study. 29188284 2018
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 Biomarker disease BEFREE The move, which expanded the indications for the BRAF inhibitor vemurafenib to include Erdheim-Chester disease, points to a new approval pathway for drugs that treat rare cancers. 29133287 2018
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE IMPLICATIONS FOR PRACTICE: Vemurafenib, an oral monotherapy targeting a mutation in BRAF, is the first U.S. Food and Drug Administration approval for the treatment of Erdheim-Chester disease (ECD). 30120160 2018
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 Biomarker disease BEFREE Vemurafenib (BRAF Inhibitor) Therapy for Orbital Erdheim-Chester Disease. 28099231 2017
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE Significant differences were the eyelid involvement in XG, orbital nerve involvement, and an elevated IgG4+/IgG+ ratio in IgG4-RD and the only genetic abnormality found was BRAF V600E mutation in the Erdheim-Chester disease subgroup of XG. 26882062 2017
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 Biomarker disease BEFREE Effective BRAF inhibitor vemurafenib therapy in a 2-year-old patient with sequentially diagnosed Langerhans cell histiocytosis and Erdheim-Chester disease. 28182116 2017
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE BRAF mutation testing to determine eligibility for treatment with vemurafenib was performed on archival skin lesions of a 54-year-old patient diagnosed with Erdheim-Chester disease (ECD) in 1999. 28455460 2017
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 Biomarker disease BEFREE Treatment of Erdheim-Chester disease (ECD), a rare non-Langerhans histiocytosis, relies on interferon-α, chemotherapeutic agents such as purine analogs, cytokine-blocking agents and BRAF inhibitors. 28680751 2017
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE Evaluation of clinicopathologic characteristics and the BRAF V600E mutation in Erdheim-Chester disease among Chinese adults. 26858028 2016
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE A BRAF(V600E) mutation in a non-LCH histiocytic lesion with a xanthogranuloma phenotype (CD163/CD68/CD14/fascin/Factor 13a) should prompt an Erdheim-Chester disease workup. 26454140 2016
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE We collected CSF from patients with BRAF V600E or K-mutated melanoma (N=8) or BRAF V600E mutated Erdheim-Chester Disease (ECD) (N=3) with suspected central nervous system (CNS) involvement on the basis of neurological symptoms (10/11), MRI imaging (8/11), or both. 27863426 2016
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE Erdheim-Chester disease (ECD) is a rare form of non-Langerhans-cell histiocytosis, associated in more than 50% of cases to BRAF(V600E) mutations in early multipotent myelomonocytic precursors or in tissue-resident histiocytes. 25744785 2015
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE Anecdotal responses to vemurafenib, a BRAF-V600E inhibitor, have been reported in a few cases of LCH and Erdheim-Chester disease. 26637773 2015
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 Biomarker disease BEFREE This review summarizes current knowledge regarding the role of BRAF in lymphoid and myeloid neoplasms, with a focus on hairy-cell leukemia, Langerhans cell histiocytosis, and Erdheim-Chester disease. 24495477 2015
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE Identification of the activating BRAFV600E mutation in Erdheim-Chester disease (ECD) and Langerhans cell histiocytosis (LCH) cases provided the basis for the treatment with BRAF and/or MEK inhibitors, but additional treatment options are needed. 26110571 2015
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE Does the BRAF(V600E) mutation herald a new treatment era for Erdheim-Chester disease? A case-based review of a rare and difficult to diagnose disorder. 25735579 2015
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE Patients with Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) have a high frequency of BRAF(V600E) mutations and respond to RAF inhibitors. 25324352 2015
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE BRAF(V600E) mutations have been observed in half of patients with Langerhans cell histiocytosis (LCH) and in 50% to 100% of patients with Erdheim-Chester disease (ECD) patients. 25422482 2015
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease. 25003820 2014
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE Erdheim-Chester disease with an 18F-fluorodeoxyglucose-avid breast mass and BRAF V600E mutation. 24531980 2014
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 GeneticVariation disease BEFREE High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. 22879539 2012
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		0.400 CausalMutation disease CGI