MCID: HYP319
MIFTS: 32

Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib malady

Blood diseases, Cancer diseases, Rare diseases categories
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Summaries for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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47OMIM, 33MalaCards
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MalaCards: Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib, also known as idiopathic hypereosinophilic syndrome, is related to hypereosinophilic syndrome and leukemia. 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 HTLV-I infection and MAPK signaling pathway. The compounds dmpq dihydrochloride and su 16f have been mentioned in the context of this disorder.

Description from OMIM:47 607685

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

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47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

49
idiopathic hypereosinophilic syndrome:
Prevalence: 1-5/10000; Age of onset: Adulthood


Aliases & Descriptions:

hypereosinophilic syndrome, idiopathic, resistant to imatinib 47
idiopathic hypereosinophilic syndrome 49 62


External Ids:

OMIM47 607685
ICD10 via Orphanet26 D47.5
SNOMED-CT via Orphanet59 414450004, 423294001
UMLS via Orphanet63 C0206141

Related Diseases for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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17GeneCards, 18GeneDecks
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Diseases related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1hypereosinophilic syndrome31.8FIP1L1, PDGFRA, PDGFRB
2leukemia30.7PDGFRB, PDGFRA, FIP1L1
3endomyocardial fibrosis30.7PDGFRA, FIP1L1
4eosinophilia30.5FIP1L1, PDGFRA, PDGFRB
5systemic mastocytosis30.2PDGFRB, PDGFRA
6mastocytosis30.1PDGFRB, PDGFRA, FIP1L1
7cerebritis10.4
8restrictive cardiomyopathy10.4
9cardiac tamponade10.3
10eosinophilic gastroenteritis10.3
11arthritis10.3
12gastroenteritis10.3
13myocarditis10.3
14pericarditis10.3
15myelitis10.1
16portal vein thrombosis10.1
17central pontine myelinolysis10.1
18acute leukemia10.1
19constrictive pericarditis10.1
20biliary atresia10.1
21sclerosing cholangitis10.1
22bursitis10.1
23cellulitis10.1
24cholangitis10.1
25disseminated intravascular coagulation10.1
26encephalitis10.1
27endocarditis10.1
28hypertension10.1
29liver disease10.1
30myocardial infarction10.1
31polyneuropathy10.1
32rheumatoid arthritis10.1
33wilms tumor10.1
34acute myelomonocytic leukemia10.1
35aneurysm of sinus of valsalva10.1
36aquagenic pruritus10.1
37bone marrow necrosis10.1
38coronary artery aneurysm10.1
39erythema elevatum diutinum10.1
40granulomatosis with polyangiitis10.1
41immunotactoid glomerulopathy10.1
42lymphoblastic lymphoma10.1
43nodular regenerative hyperplasia10.1
44splenomegaly10.1
45transverse myelitis10.1
46wells syndrome10.1
47aneurysm10.1
48thromboembolism10.1
49venous thrombosis10.1
50eosinophilic granulomatosis with polyangiitis10.1

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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47OMIM
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Symptoms by clinical synopsis from OMIM:

607685

Clinical features from OMIM:

607685

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

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

Search NIH Clinical Center for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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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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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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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Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 53QIAGEN, 55Reactome, 60Thomson Reuters, 5Cell Signaling Technology, 54R&D Systems, 51PharmGKB, 61Tocris Bioscience
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Pathways related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib according to GeneCards/GeneDecks:

(show all 34)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0PDGFRA, PDGFRB
2
Show member pathways
MAPK signaling pathway38
9.0PDGFRB, PDGFRA
3
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
9.0PDGFRB, PDGFRA
4
Show member pathways
9.0PDGFRB, PDGFRA
5
Show member pathways
9.0PDGFRB, PDGFRA
6
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.0PDGFRA, PDGFRB
7
Show member pathways
9.0PDGFRB, PDGFRA
89.0PDGFRB, PDGFRA
9
Show member pathways
9.0PDGFRA, PDGFRB
109.0PDGFRB, PDGFRA
11
Show member pathways
9.0PDGFRB, PDGFRA
12
Show member pathways
9.0PDGFRB, PDGFRA
139.0PDGFRA, PDGFRB
14
Show member pathways
9.0PDGFRB, PDGFRA
15
Show member pathways
9.0PDGFRB, PDGFRA
16
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
9.0PDGFRB, PDGFRA
17
Show member pathways
9.0PDGFRA, PDGFRB
18
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor38
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
9.0PDGFRB, PDGFRA
199.0PDGFRB, PDGFRA
209.0PDGFRB, PDGFRA
219.0PDGFRA, PDGFRB
229.0PDGFRA, PDGFRB
23
Show member pathways
9.0PDGFRB, PDGFRA
24
Show member pathways
PDGF Pathway38
9.0PDGFRB, PDGFRA
259.0PDGFRB, PDGFRA
269.0PDGFRB, PDGFRA
27
Show member pathways
IL23-mediated signaling events38
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling38
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
9.0PDGFRA, PDGFRB
289.0PDGFRB, PDGFRA
29
Show member pathways
Signaling Pathways in Glioblastoma38
9.0PDGFRB, PDGFRA
30
Show member pathways
9.0PDGFRA, PDGFRB
31
Show member pathways
9.0PDGFRB, PDGFRA
32
Show member pathways
9.0PDGFRB, PDGFRA
33
Show member pathways
9.0PDGFRB, PDGFRA
349.0PDGFRB, PDGFRA

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

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Sources:
61Tocris Bioscience, 45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1dmpq dihydrochloride619.3PDGFRA, PDGFRB
2su 16f619.3PDGFRA, PDGFRB
3su 6668619.3PDGFRA, PDGFRB
4sunitinib malate619.3PDGFRA, PDGFRB
5pkc 412459.3PDGFRA, PDGFRB
6ag-1296459.3PDGFRB, PDGFRA
7pazopanib51 1110.2PDGFRB, PDGFRA
8sunitinib45 51 1111.2PDGFRA, PDGFRB
9regorafenib51 1110.2PDGFRB, PDGFRA
10tgf beta1459.1PDGFRB, PDGFRA
11calcitriol45 61 24 1112.1PDGFRB, PDGFRA
12paraffin459.0PDGFRB, PDGFRA
13phosphotyrosine458.9PDGFRB, PDGFRA
14imatinib45 51 1110.8PDGFRB, PDGFRA, FIP1L1
15rapamycin458.7PDGFRB, PDGFRA
16tyrosine458.5FIP1L1, PDGFRA, PDGFRB

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

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16Gene Ontology
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Cellular components related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of plasma membraneGO:0312269.0PDGFRB, PDGFRA

Biological processes related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayGO:0380919.4PDGFRB, PDGFRA
2metanephric glomerular capillary formationGO:0722779.4PDGFRB, PDGFRA
3retina vasculature development in camera-type eyeGO:0612989.4PDGFRA, PDGFRB
4positive regulation of phospholipase C activityGO:0108639.4PDGFRA, PDGFRB
5cardiac myofibril assemblyGO:0550039.3PDGFRB, PDGFRA
6adrenal gland developmentGO:0303259.3PDGFRA, PDGFRB
7positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.3PDGFRB, PDGFRA
8platelet-derived growth factor receptor signaling pathwayGO:0480089.3PDGFRB, PDGFRA
9cell chemotaxisGO:0603269.3PDGFRA, PDGFRB
10positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.3PDGFRB, PDGFRA
11wound healingGO:0420609.3PDGFRA, PDGFRB
12peptidyl-tyrosine phosphorylationGO:0181089.3PDGFRB, PDGFRA
13positive regulation of ERK1 and ERK2 cascadeGO:0703749.2PDGFRB, PDGFRA
14positive regulation of cell migrationGO:0303359.2PDGFRA, PDGFRB
15phosphatidylinositol-mediated signalingGO:0480159.2PDGFRB, PDGFRA
16protein autophosphorylationGO:0467779.1PDGFRA, PDGFRB
17fibroblast growth factor receptor signaling pathwayGO:0085439.1PDGFRB, PDGFRA
18Fc-epsilon receptor signaling pathwayGO:0380959.0PDGFRB, PDGFRA
19neurotrophin TRK receptor signaling pathwayGO:0480119.0PDGFRB, PDGFRA
20epidermal growth factor receptor signaling pathwayGO:0071738.9PDGFRA, PDGFRB
21in utero embryonic developmentGO:0017018.7PDGFRB, PDGFRA

Molecular functions related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor receptor bindingGO:0051619.0PDGFRB, PDGFRA
2vascular endothelial growth factor bindingGO:0380858.9PDGFRB, PDGFRA
3platelet-derived growth factor bindingGO:0484078.7PDGFRB, PDGFRA

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

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Sources for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet