MCID: HYP319
MIFTS: 30

Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib malady

Genetic diseases (common) category

Aliases & Classifications for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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Sources:
49OMIM, 11diseasecard, 65UMLS, 47Novoseek
See all sources

Aliases & Descriptions for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib:

Name: Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib 49 11
 
Idiopathic Hypereosinophilic Syndrome 65 47


Classifications:



External Ids:

OMIM49 607685

Summaries for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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MalaCards based summary: Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib, also known as idiopathic hypereosinophilic syndrome, is related to myelodysplastic syndrome and hypereosinophilic syndrome, and has symptoms including abnormality of the nervous system, pruritus and somatic mutation. An important gene associated with Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib is PDGFRA (Platelet-Derived Growth Factor Receptor, Alpha Polypeptide), and among its related pathways are Vemurafenib Pathway, Pharmacodynamics and Alzheimers Disease Pathway. Related mouse phenotypes are tumorigenesis and digestive/alimentary.

Description from OMIM:49 607685

Related Diseases for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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Diseases related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 155)
idRelated DiseaseScoreTop Affiliating Genes
1myelodysplastic syndrome29.5IL3, KIT, PDGFRB, WT1
2hypereosinophilic syndrome11.3
3leukemia10.6
4eosinophilia10.6
5endomyocardial fibrosis10.4
6disseminated eosinophilic collagen disease10.4
7cerebritis10.4
8leukocyte disease10.4
9adult syndrome10.4
10restrictive cardiomyopathy10.4
11cardiomyopathy10.4
12chronic eosinophilic leukemia10.4
13primary hypereosinophilic syndrome10.4
14c syndrome10.3
15aplastic anemia10.3
16acute leukemia10.3
17arthritis10.3
18cardiac tamponade10.3
19myelitis10.3
20eosinophilic gastroenteritis10.3
21blood protein disease10.3
22bone structure disease10.3
23colitis10.3
24gastroenteritis10.3
25myocarditis10.3
26pericarditis10.3
27wells syndrome10.3
28encephalopathy10.3
29extraneural perineurioma10.2KIT, PDGFRA
30urinary bladder small cell neuroendocrine carcinoma10.2KIT, PDGFRA
31partial sensory epilepsy10.2KIT, PDGFRA
32prostate leiomyosarcoma10.2KIT, PDGFRA
33pulmonary venous return anomaly10.2KIT, PDGFRA
34cryptococcosis10.2KIT, PDGFRA
35carnitine palmitoyltransferase i deficiency , muscle10.1KIT, PDGFRA
36periosteal osteogenic sarcoma10.1KIT, PDGFRA
37mesenchymal chondrosarcoma10.1KIT, PDGFRA
38rheumatoid arthritis10.1
39myocardial infarction10.1
40eosinophilia, familial10.1
41myeloproliferative disorder with eosinophilia10.1
42myeloproliferative neoplasms, familial10.1
43child syndrome10.1
44adult t-cell leukemia10.1
45chronic myelomonocytic leukemia10.1
46liver disease10.1
47lymphoblastic lymphoma10.1
48myelodysplastic myeloproliferative cancer10.1
49skin conditions10.1
50systemic mastocytosis10.1

Graphical network of the top 20 diseases related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib:



Diseases related to hypereosinophilic syndrome, idiopathic, resistant to imatinib

Symptoms for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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Symptoms by clinical synopsis from OMIM:

607685

Clinical features from OMIM:

607685

HPO human phenotypes related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib:

(show all 13)
id Description Frequency HPO Source Accession
1 abnormality of the nervous system HP:0000707
2 pruritus HP:0000989
3 somatic mutation HP:0001428
4 restrictive cardiomyopathy HP:0001723
5 splenomegaly HP:0001744
6 eosinophilia HP:0001880
7 pulmonary infiltrates HP:0002113
8 hepatomegaly HP:0002240
9 myalgia HP:0003326
10 sporadic HP:0003745
11 venous thrombosis HP:0004936
12 myeloproliferative disorder HP:0005547
13 endocardial fibrosis HP:0006685

Drugs & Therapeutics for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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Drugs for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
imatinibapprovedPhase 1, Phase 2567152459-95-5644241, 5291
Synonyms:
112GI019
152459-95-5
1iep
1xbb
4-(4-METHYL-PIPERAZIN-1-YLMETHYL)-N-[4-METHYL-3-(4-PYRIDIN-3-YL-PYRIMIDIN-2-YLAMINO)-PHENYL]-BENZAMIDE
4-(4-METHYL-piperazin-1-ylmethyl)-N-[4-methyl-3-(4-pyridin-3-yl-pyrimidin-2-ylamino)-phenyl]-benzamide
4-[(4-Methyl-1-piperazinyl)methyl]-N-[4-methyl-3-[[4-(3-pyridinyl)-2-pyrimidinyl]amino]-phenyl]benzamide
4-[(4-methyl-1-piperazinyl)methyl]-N-[4-methyl-3-[[4-(3-pyridinyl)-2-pyrimidinyl]amino]phenyl]-benzamide methanesulfonate
4-[(4-methylpiperazin-1-yl)methyl]-N-(4-methyl-3-{[4-(pyridin-3-yl)pyrimidin-2-yl]amino}phenyl)benzamide
4-[(4-methylpiperazin-1-yl)methyl]-N-[4-methyl-3-[(4-pyridin-3-ylpyrimidin-2-yl)amino]phenyl]benzamide
4-[(4-methylpiperazin-1-yl)methyl]-N-{4-methyl-3-[(4-pyridin-3-ylpyrimidin-2-yl)amino]phenyl}benzamide
AC-524
AC1L1K0Z
AKOS000280662
BIDD:GT0047
BRD-K92723993-066-02-9
Benzamide, 4-[(4-methyl-1-piperazinyl)methyl]-N-[4-methyl-3-[[4-(3-pyridinyl)-2-pyrimidinyl]amino]phenyl]- (9CI)
CCRIS 9076
CGP 57148B
CGP57148
CGP57148B
CHEBI:45783
CHEMBL941
CID5291
Cgp 57148
D08066
DB00619
DB03261
EN002706
FT-0083542
Glamox
Glamox (TN)
 
Gleevec
Glivec
HMS2089D03
I01-1232
Imatinib
Imatinib (INN)
Imatinib Mesylate
Imatinib Methansulfonate
Imatinib [INN:BAN]
Imatinib free base
Imatinibum
Kinome_3724
LS-182208
LS-187106
MolPort-000-883-342
N-(3-(4-(pyridin-3-yl)pyrimidin-2-ylamino)-4-methylphenyl)-4-((4-methylpiperazin-1-yl)methyl)benzamide
NCGC00159456-02
NCGC00159456-03
NCGC00159456-04
NSC743414
STI
STI 571
STI-571
STI571
STK617705
UNII-BKJ8M8G5HI
alpha-(4-Methyl-1-piperazinyl)-3'-((4-(3-pyridyl)-2-pyrimidinyl)amino)-P-toluidide
alpha-(4-Methyl-1-piperazinyl)-3'-((4-(3-pyridyl)-2-pyrimidinyl)amino)-p-tolu-p-toluidide
imatinib
nchembio.117-comp23
nchembio.162-comp5
nchembio.282-comp6
nchembio.83-comp14
sti-571

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of Oral AMN107 in Adults With Chronic Myelogenous Leukemia (CML) or Other Blood Related CancersCompletedNCT00109707Phase 1, Phase 2
2A Study to Determine the Safety and Efficacy of Imatinib Mesylate in Patients With Idiopathic Hypereosinophilic SyndromeTerminatedNCT00171860Phase 2

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Genetic Tests for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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Anatomical Context for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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Animal Models for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib or affiliated genes

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MGI Mouse Phenotypes related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6IL3, IL5, KIT, PDGFRA
2MP:00053818.5IL5, KIT, PDGFRA, PDGFRB, TGFA
3MP:00053808.2IL5, KIT, PDGFRA, PDGFRB, WT1
4MP:00053698.1KIT, PDGFRA, PDGFRB, TGFA, WT1
5MP:00053678.0IL3, KIT, PDGFRA, PDGFRB, WT1
6MP:00053887.9IL3, IL5, KIT, PDGFRA, WT1
7MP:00053787.5IL5, KIT, PDGFRA, PDGFRB, TGFA, WT1
8MP:00053977.2IL3, IL5, KIT, PDGFRA, PDGFRB, WT1
9MP:00053797.2IL3, KIT, PDGFRA, PDGFRB, TGFA, WT1
10MP:00053897.1IL5, KIT, PDGFRA, PDGFRB, TGFA, WT1
11MP:00053876.8IL3, IL5, KIT, PDGFRA, PDGFRB, TGFA

Publications for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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Variations for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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Expression for genes affiliated with Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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Search GEO for disease gene expression data for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib.

Pathways for genes affiliated with Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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Pathways related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib according to GeneCards Suite gene sharing:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7PDGFRA, PDGFRB
29.7PDGFRA, PDGFRB
3
Show member pathways
9.7PDGFRA, PDGFRB
49.7PDGFRA, PDGFRB
59.6KIT, PDGFRA
6
Show member pathways
9.3IL5, PDGFRA, PDGFRB
79.2KIT, PDGFRA, PDGFRB
8
Angiogenesis (CST)
Show member pathways
9.2KIT, PDGFRA, PDGFRB
98.9IL3, IL5, KIT
108.7IL3, PDGFRA, WT1
118.6KIT, PDGFRA, PDGFRB, TGFA
128.6KIT, PDGFRA, PDGFRB, TGFA
138.5IL3, KIT, PDGFRA, PDGFRB
14
Show member pathways
8.1IL3, IL5, KIT, PDGFRA, PDGFRB
15
Show member pathways
8.0IL3, KIT, PDGFRA, PDGFRB, TGFA
16
Show member pathways
8.0IL3, KIT, PDGFRA, PDGFRB, TGFA
17
Show member pathways
8.0IL3, KIT, PDGFRA, PDGFRB, TGFA
18
Show member pathways
8.0IL3, KIT, PDGFRA, PDGFRB, TGFA
19
Show member pathways
8.0IL3, KIT, PDGFRA, PDGFRB, TGFA
20
Show member pathways
7.6IL3, IL5, KIT, PDGFRA, PDGFRB, TGFA
21
Show member pathways
7.6IL3, IL5, KIT, PDGFRA, PDGFRB, TGFA
22
Show member pathways
7.6IL3, IL5, KIT, PDGFRA, PDGFRB, TGFA
23
Show member pathways
7.6IL3, IL5, KIT, PDGFRA, PDGFRB, TGFA

GO Terms for genes affiliated with Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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Cellular components related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of plasma membraneGO:00312269.7PDGFRA, PDGFRB

Biological processes related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib according to GeneCards Suite gene sharing:

(show all 38)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayGO:003809110.4PDGFRA, PDGFRB
2metanephric glomerular capillary formationGO:007227710.4PDGFRA, PDGFRB
3cardiac myofibril assemblyGO:005500310.3PDGFRA, PDGFRB
4platelet-derived growth factor receptor signaling pathwayGO:004800810.3PDGFRA, PDGFRB
5retina vasculature development in camera-type eyeGO:006129810.2PDGFRA, PDGFRB
6positive regulation of JAK-STAT cascadeGO:004642710.1IL5, KIT
7positive regulation of tyrosine phosphorylation of Stat5 proteinGO:004252310.0IL3, KIT
8embryonic hemopoiesisGO:003516210.0IL3, KIT
9positive regulation of DNA replicationGO:004574010.0IL3, PDGFRA
10positive regulation of MAP kinase activityGO:004340610.0KIT, PDGFRB
11metanephric S-shaped body morphogenesisGO:00722849.9PDGFRB, WT1
12metanephric mesenchyme developmentGO:00720759.9PDGFRB, WT1
13positive regulation of phospholipase C activityGO:00108639.8KIT, PDGFRA, PDGFRB
14adrenal gland developmentGO:00303259.8PDGFRB, WT1
15positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.7KIT, PDGFRA, PDGFRB
16positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.7KIT, PDGFRA, PDGFRB
17phosphatidylinositol-mediated signalingGO:00480159.7KIT, PDGFRA, PDGFRB
18positive regulation of cell migrationGO:00303359.7KIT, PDGFRA, PDGFRB
19transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071699.6KIT, PDGFRA, PDGFRB
20protein autophosphorylationGO:00467779.6KIT, PDGFRA, PDGFRB
21peptidyl-tyrosine phosphorylationGO:00181089.6KIT, PDGFRA, PDGFRB
22positive regulation of mitotic nuclear divisionGO:00458409.5PDGFRB, TGFA
23cell chemotaxisGO:00603269.4KIT, PDGFRA, PDGFRB
24wound healingGO:00420609.4PDGFRA, PDGFRB, TGFA
25cytokine-mediated signaling pathwayGO:00192219.3IL3, IL5, KIT
26MAPK cascadeGO:00001658.5IL3, IL5, KIT, PDGFRA, PDGFRB
27activation of MAPKK activityGO:00001868.5IL3, IL5, KIT, PDGFRA, PDGFRB
28Ras protein signal transductionGO:00072658.5IL3, IL5, KIT, PDGFRA, PDGFRB
29insulin receptor signaling pathwayGO:00082868.5IL3, IL5, KIT, PDGFRA, PDGFRB
30fibroblast growth factor receptor signaling pathwayGO:00085438.5IL3, IL5, KIT, PDGFRA, PDGFRB
31Fc-epsilon receptor signaling pathwayGO:00380958.5IL3, IL5, KIT, PDGFRA, PDGFRB
32neurotrophin TRK receptor signaling pathwayGO:00480118.4IL3, IL5, KIT, PDGFRA, PDGFRB
33axon guidanceGO:00074118.2IL3, IL5, KIT, PDGFRA, PDGFRB
34innate immune responseGO:00450878.1IL3, IL5, KIT, PDGFRA, PDGFRB
35positive regulation of cell proliferationGO:00082848.1IL3, IL5, KIT, PDGFRA, PDGFRB, TGFA
36vascular endothelial growth factor receptor signaling pathwayGO:00480108.0IL3, IL5, KIT, PDGFRA, PDGFRB
37small GTPase mediated signal transductionGO:00072647.8IL3, IL5, KIT, PDGFRA, PDGFRB
38epidermal growth factor receptor signaling pathwayGO:00071737.7IL3, IL5, KIT, PDGFRA, PDGFRB, TGFA

Molecular functions related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor receptor bindingGO:000516110.1PDGFRA, PDGFRB
2vascular endothelial growth factor bindingGO:003808510.1PDGFRA, PDGFRB
3platelet-derived growth factor bindingGO:00484079.7PDGFRA, PDGFRB
4transmembrane receptor protein tyrosine kinase activityGO:00047149.2KIT, PDGFRA, PDGFRB
5protein tyrosine kinase activityGO:00047139.2KIT, PDGFRA, PDGFRB
6growth factor activityGO:00080839.1IL3, IL5, TGFA

Sources for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet