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 GeneticVariation disease BEFREE Pemphigus-like hypereosinophilic syndrome with FIP1L1-PDGFRA fusion gene: A challenging and uncommon clinical presentation. 31021002 2019
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 GeneticVariation disease BEFREE We present a rare case of angioimmunoblastic T-cell lymphoma (AITL) and HES with the FIP1L1/PDGFRA gene rearrangement. 28885361 2017
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease CTD_human Hypereosinophilic Syndrome as a Rare Cause of Reversible Biventricular Heart Failure. 28347583 2017
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 GeneticVariation disease BEFREE The purpose of this review is to provide an overview of the differential diagnosis for eosinophilia, to recommend specific steps for the pathologist evaluating blood and bone marrow, and to emphasize 2 important causes of eosinophilia that require specific ancillary tests for diagnosis: myeloproliferative neoplasm with PDGFRA rearrangement and lymphocyte-variant hypereosinophilic syndrome. 27684977 2016
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 GeneticVariation disease BEFREE Imatinib Treatment in PDGFRA-Negative Childhood Hypereosinophilic Syndrome. 26257279 2016
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE Subjects with FIP1L1-PDGFRA-myeloid neoplasm (FP; n =12), PDGFRA-negative HES with ≥4 criteria suggestive of a myeloid neoplasm (MHES; n =10), or steroid-refractory PDGFRA-negative HES with <4 myeloid criteria (SR; n = 5) were enrolled in a prospective study of imatinib therapy (NCT00044304: registered at clinicaltrials.gov). 26797802 2016
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 AlteredExpression disease BEFREE FIP1L1-PDGFRA is a constitutively activated kinase described in chronic eosinophilic leukemia (CEL) and hypereosinophilic syndrome (HES). 25761934 2015
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 GeneticVariation disease BEFREE In conclusion, S116836 is active against WT and T674I FIP1L1-PDGFRα-expressing cells, and may be a prospective agent for the treatment of HES/CEL. 25431951 2014
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE FIP1L1-PDGFRα-positive hypereosinophilic syndrome in childhood: a case report and review of literature. 23337549 2014
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 GeneticVariation disease BEFREE The "gate-keeper" mutations T674I platelet-derived growth factor receptor α (PDGFRα) in hypereosinophilic syndrome (HES) and T315I Bcr-Abl in chronic myeloid leukemia (CML) are resistant to imatinib and the second-generation small-molecule tyrosine kinase inhibitors (TKI). 22447844 2012
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE FIP1L1-PDGFRA fusion is a clonal marker for the diagnosis and treatment of HES. 22806436 2012
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 GeneticVariation disease BEFREE In conclusion, our data provide evidence that imatinib-sensitive PDGFRA point mutations play an important role in the pathogenesis of HES and we propose that more research should be performed to further define the frequency and treatment response of PDGFRA mutations in FIP1L1-PDGFRA-negative HES patients. 21224473 2011
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE Current findings of FIP1L1/PDGFR alpha-positive HES/CEL are reviewed focusing on aberrant mast cell development leading to SM. 20523072 2010
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE The FIP1L1-PDGFRA chimeric protein was detectable in 16 (14 males and 2 females) out of 77 examined HES patients (20%) by RT-PCR. 19728396 2010
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 GeneticVariation disease BEFREE The identification of novel drug-resistant FIP1L1-PDGFRA variants may help to develop the next generation of target-directed compounds for CEL/HES and other leukemias. 19210352 2009
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE Despite patients with FIP1-like-1-platelet-derived growth factor alpha (FIP1L1-PDGFRA) associated HES (myeloid neoplasms associated with PDGFRA rearrangement) have been shown to respond to low-dose imatinib with a complete and durable hematological and cytogenetic remission, influences of imatinib on clinical manifestations related to hypereosinophilia heart involvement are variable. 19096755 2009
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE The pathogenesis of hypereosinophilic syndrome (HES) in some patients is highly dependent on FIP1-Like-1 (FIP1L1)-platelet-derived growth factor receptor alpha (PDGFRalpha), which can generate sustained activation signaling to maintain a cell malignant phenotype. 19671059 2009
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 GeneticVariation disease BEFREE Thus, reverse-transcription polymerase chain reaction (RT-PCR)is indicated in all patients with HES in order to detect the FIP1L1-PDGFRA transcript. 20010473 2009
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE To evaluate current detection methods for FIP1L1-PDGFRA in hypereosinophilic syndrome (HES), we developed a means to rapidly amplify genomic break points. 18987650 2009
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE Chronic myeloid leukemia, gastrointestinal stromal tumors (GISTs), and idiopathic hypereosinophilic syndrome are associated with pathological deregulation of the tyrosine kinases BCR-ABL, KIT, and PDGFRA, respectively. 19176456 2009
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 AlteredExpression disease BEFREE FIP1L1-PDGFRA is expressed in several cell lineages, thus explaining increases in neutrophils and mast cells in HES. 19243381 2009
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.600 Biomarker disease BEFREE As such, the fusion gene FIP1L1/PDGFRA was found as a cause of CEL in a significant proportion of patients initially diagnosed as having HES. 19494514 2009
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