Disease: Idiopathic Hypereosinophilic Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. 12660384 2003
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE Recently, a novel tyrosine kinase that is generated from fusion of the Fip1-like 1 (FIP1L1) and PDGFR alpha (PDGFRA) genes has been identified as a therapeutic target for imatinib mesylate in hypereosinophilic syndrome (HES). 12842979 2003
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE Eight had FIP1L1-PDGFRA (+) CEL, three had FIP1L1-PDGFRA (-) CEL and six had IHES. 14973504 2004
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE Fusion of the Fip1-like 1 gene (FIP1L1) and the platelet-derived growth factor receptor alpha gene (PDGFRA) was discovered in the majority of patients with imatinib-sensitive HES, and all patients with the fusion responded to imatinib. 15175999 2004
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE The discovery of the FIP1L1-PDGFRA fusion gene in the hypereosinophilic syndrome is an example of the power of clinical translational research and identifies interstitial chromosomal deletion as a novel mechanism to generate oncogenic tyrosine kinase fusion genes. 14676627 2004
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 GeneticVariation disease BEFREE A pathogenetic mutation, FIP1L1-PDGFRA, that results from an interstitial chromosome 4q12 deletion, leads to a constitutive activation of the platelet-derived growth factor receptor-alpha (PDGFRA) tyrosine kinase as well as a disease phenotype that mimics both the hypereosinophilic syndrome (HES) and systemic mast cell disease associated with eosinophilia (SMCD-eos). 15036941 2004
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE Discovery of the cryptic FIP1L1-PDGFRA gene fusion in cytogenetically normal patients with systemic mast cell disease with eosinophilia or idiopathic HES has redefined these diseases as clonal eosinophilias. 15995322 2005
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE The hypereosinophilic syndrome: fluorescence in situ hybridization detects the del(4)(q12)-FIP1L1/PDGFRA but not genomic rearrangements of other tyrosine kinases. 15921374 2005
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 GeneticVariation disease BEFREE Idiopathic hypereosinophilic syndrome (HES) in children is a very rare disorder; certain clinical differences with adult HES have been described, with no pediatric case with the imatinib-responsive FIP1L1-PDGFRA fusion gene reported to date. 16344672 2005
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE Further investigation of the nature of FIP1L1-PDGFRA affected cells will improve the classification of HES. 15772698 2005
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE Recent reports showed that a novel fusion tyrosine kinase, Fip1-like1 (FIP1L1) platelet-derived growth factor receptor alpha (PDGFRalpha), is found in idiopathic hypereosinophilic syndrome. 16343267 2006
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE Multilineage involvement of the fusion gene in patients with FIP1L1/PDGFRA-positive hypereosinophilic syndrome. 16409293 2006
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease CTD_human Hypereosinophilic syndrome (HES) has recently been recognized as a clonal leukemic lesion, which is due to a specific oncogenic event that generates hyperactive platelet-derived growth factor receptor-alpha-derived tyrosine kinase fusion proteins. 16778211 2006
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE Platelet-derived growth factor receptor-alpha-associated hypereosinophilic syndrome and lymphomatoid papulosis. 16965435 2006
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 GeneticVariation disease BEFREE We tested the in vitro efficacy of imatinib and AMN107 in the EOL-1 cell line and in cells from a patient with HES harboring the FIP1L1-PDGFR-alpha fusion kinase. 16682077 2006
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 AlteredExpression disease BEFREE This study demonstrates the utility of screening for PDGFRA kinase domain overexpression in patients with IHES and has identified a third PDGFRA fusion partner in chronic myeloproliferative disorders. 16498388 2006
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE Taken together, our data and previous reports suggest that FIP1L1-PDGFRA - positive HES is a distinct clinical entity with myeloproliferative features and showing a poor response to corticosteroid treatment. 17261495 2007
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 GeneticVariation disease BEFREE Molecular analysis in peripheral blood did not reveal any mutation in the Fip1-like-platelet-derived growth factor receptor alpha chain (FIP1L1-PDGFRA) gene which was recently reported to be mutated in IHES. 16996710 2007
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 GeneticVariation disease BEFREE We screened seven Tunisian patients fulfilling the WHO criteria of HES for the presence of the FIP1L1-PDGFRA fusion gene using nested reverse transcription polymerase chain reaction on peripheral blood samples. 17137731 2007
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE We consider the coadministration of corticosteroids and hydroxyurea to be an effective combination for the treatment of FIP1L1-PDGFRA-negative HES. 18004179 2007
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 GeneticVariation disease BEFREE HES and CEL-NOC are considered distinct from molecularly defined eosinophilic disorders, such as those associated with activating mutations of PDGFR (PDGFRA and PDGFRB) and fibroblast growth factor receptor-1. 20425445 2008
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE Our study shows that treatment with mepolizumab, an agent designed to target eosinophils, can result in corticosteroid-sparing for patients negative for FIP1L1-PDGFRA who have the hypereosinophilic syndrome. 18344568 2008
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 GeneticVariation disease BEFREE As IFPs are characterized by an inflammatory infiltrate rich in eosinophils, we used fluorescence in situ hybridization in a subset of tumours to investigate a possible FIP1L1-PDGFRA translocation which is known as the cause of hypereosinophilic syndrome (HES). 18686281 2008
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 GeneticVariation disease BEFREE The fusion protein between the platelet-derived growth factor receptor alpha (PDGFRalpha, P) gene and the Fip1-like1 (FIP1L1, F) may be identified in 14 to 60% of HES and it indicates a clonal hypereosinophilic syndrome called F/P-positive CEL. 17549478 2008
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE Interstitial deletion involving chromosome 4q12 generates the novel tyrosine kinase fusion protein encoded by FIP1L1-PDGFRA, which is present in many patients previously labelled as having hypereosinophilic syndrome, initially reported in 2003. 18256119 2008