MCID: HYP319
MIFTS: 27

Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib malady

Blood, Cancer categories

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 endomyocardial fibrosis. 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 Signal transduction IP3 signaling and Human Embryonic Stem Cell Pluripotency. The compounds Becaplermin and dmpq dihydrochloride have been mentioned in the context of this disorder.

Description from OMIM:47 607685

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

Sources:
47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

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


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 61


External Ids:

OMIM47 607685
ICD10 via Orphanet26 D47.5
SNOMED-CT via Orphanet58 414450004, 423294001
UMLS via Orphanet62 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 71)
idRelated DiseaseScoreTop Affiliating Genes
1hypereosinophilic syndrome31.8PDGFRB, PDGFRA, FIP1L1
2endomyocardial fibrosis30.6PDGFRA, FIP1L1
3systemic mastocytosis30.1PDGFRA, PDGFRB
4mastocytosis30.1PDGFRB, FIP1L1, PDGFRA
5n syndrome10.6
6mass syndrome10.5
7secondary hypereosinophilic syndrome10.4
8char syndrome10.4
9cardiac tamponade10.3
10eosinophilic gastroenteritis10.3
11acute leukemia10.3
12arthritis10.3
13loeffler endocarditis10.1
14myelitis10.1
15biliary atresia10.1
16coronary aneurysm10.1
17cellulitis10.1
18loeffler syndrome10.1
19portal vein thrombosis10.1
20central pontine myelinolysis10.1
21churg-strauss syndrome10.1
22sclerosing cholangitis10.1
23constrictive pericarditis10.1
24acute myocarditis10.1
25micro syndrome10.1
26wilms tumor10.1
27acute myelomonocytic leukemia10.1
28aquagenic pruritus10.1
29young syndrome10.1
30bone marrow necrosis10.1
31wells syndrome10.1
32coronary artery aneurysm10.1
33erythema elevatum diutinum10.1
34lymphoblastic lymphoma10.1
35nodular regenerative hyperplasia10.1
36splenomegaly10.1
37transverse myelitis10.1
38mast syndrome10.1
39thromboembolism10.1
40venous thrombosis10.1
41idiopathic eosinophilic myositis10.1
42immunotactoid glomerulopathy10.1
43chronic myeloproliferative disease10.0PDGFRB
44uterine sarcoma10.0PDGFRB
45gliosarcoma10.0PDGFRB
46dermatofibrosarcoma protuberans10.0PDGFRB
47fibromatosis10.0PDGFRB
48pilocytic astrocytoma10.0PDGFRB
49juvenile myelomonocytic leukemia10.0PDGFRA
50angiosarcoma10.0PDGFRA

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



Diseases related to hypereosinophilic syndrome, idiopathic, resistant to imatinib

Clinical Features for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

Sources:
47OMIM
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Clinical features from OMIM:

607685

Clinical synopsis from OMIM:

607685

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

Drug clinical trials:

Search ClinicalTrials for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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

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Genetic Tests for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

Anatomical Context for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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

Sources:
28inGenious Targeting Laboratory
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Publications for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

Genetic Variations for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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

Sources:
1BioGPS, 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

Sources:
12EMD Millipore, 52QIAGEN, 30KEGG, 54Reactome, 4Cell Signaling Technology, 38NCBI BioSystems Database, 50PharmGKB, 53R&D Systems, 60Tocris Bioscience
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Pathways related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib according to GeneCards/GeneDecks:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Signal transduction IP3 signaling
Hide members
9.3PDGFRB, PDGFRA
29.3PDGFRB, PDGFRA
39.3PDGFRB, PDGFRA
4
Hide members
9.3PDGFRB, PDGFRA
59.3PDGFRB, PDGFRA
6
Development Ligand-independent activation of ESR1 and ESR2
Hide members
9.3PDGFRB, PDGFRA
79.3PDGFRB, PDGFRA
8
Hide members
9.3PDGFRA, PDGFRB
9
Hide members
9.3PDGFRA, PDGFRB
10
Hide members
9.3PDGFRA, PDGFRB
11
Cytoskeleton remodeling Role of PDGFs in cell migration
Hide members
9.3PDGFRA, PDGFRB
12
Hide members
9.3PDGFRA, PDGFRB
13
Hide members
9.3PDGFRA, PDGFRB
14
Hide members
9.3PDGFRA, PDGFRB
15
Hide members
9.3PDGFRA, PDGFRB
16
Hide members
9.3PDGFRA, PDGFRB
179.3PDGFRA, PDGFRB
189.3PDGFRA, PDGFRB
199.3PDGFRA, PDGFRB
209.3PDGFRA, PDGFRB
21
Hide members
9.3PDGFRA, PDGFRB
22
Development PDGF signaling via STATs and NF-kB
Hide members
9.3PDGFRA, PDGFRB
239.3PDGFRA, PDGFRB

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

Sources:
11DrugBank, 60Tocris Bioscience, 45Novoseek, 24HMDB, 50PharmGKB
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Compounds related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1Becaplermin119.6PDGFRA, PDGFRB
2dmpq dihydrochloride609.6PDGFRB, PDGFRA
3su 16f609.6PDGFRB, PDGFRA
4su 6668609.6PDGFRB, PDGFRA
5sunitinib malate609.5PDGFRB, PDGFRA
6pkc 412459.5PDGFRB, PDGFRA
7ag-1296459.4PDGFRA, PDGFRB
8Pazopanib119.4PDGFRA, PDGFRB
9Regorafenib119.3PDGFRB, PDGFRA
10calcitriol45 60 11 2412.3PDGFRA, PDGFRB
11sunitinib45 50 1111.2PDGFRA, PDGFRB
12tgf beta1459.0PDGFRA, PDGFRB
13imatinib45 50 1110.7FIP1L1, PDGFRA, PDGFRB

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

Sources:
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 to plasma membraneGO:0312269.3PDGFRA, PDGFRB

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayGO:0380919.7PDGFRA, PDGFRB
2metanephric glomerular capillary formationGO:0722779.7PDGFRA, PDGFRB
3retina vasculature development in camera-type eyeGO:0612989.7PDGFRB, PDGFRA
4positive regulation of phospholipase C activityGO:0108639.6PDGFRB, PDGFRA
5cardiac myofibril assemblyGO:0550039.6PDGFRA, PDGFRB
6cell chemotaxisGO:0603269.6PDGFRB, PDGFRA
7adrenal gland developmentGO:0303259.6PDGFRA, PDGFRB
8platelet-derived growth factor receptor signaling pathwayGO:0480089.6PDGFRB, PDGFRA
9positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.6PDGFRB, PDGFRA
10positive regulation of phosphatidylinositol 3-kinase cascadeGO:0140689.6PDGFRA, PDGFRB
11peptidyl-tyrosine phosphorylationGO:0181089.6PDGFRB, PDGFRA
12wound healingGO:0420609.5PDGFRA, PDGFRB
13positive regulation of ERK1 and ERK2 cascadeGO:0703749.5PDGFRA, PDGFRB
14positive regulation of cell migrationGO:0303359.5PDGFRB, PDGFRA
15phosphatidylinositol-mediated signalingGO:0480159.4PDGFRA, PDGFRB
16protein autophosphorylationGO:0467779.4PDGFRB, PDGFRA
17fibroblast growth factor receptor signaling pathwayGO:0085439.3PDGFRA, PDGFRB
18in utero embryonic developmentGO:0017019.3PDGFRA, PDGFRB
19Fc-epsilon receptor signaling pathwayGO:0380959.2PDGFRA, PDGFRB
20epidermal growth factor receptor signaling pathwayGO:0071739.0PDGFRA, PDGFRB

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor receptor bindingGO:0051619.3PDGFRA, PDGFRB
2vascular endothelial growth factor bindingGO:0380859.2PDGFRA, PDGFRB
3platelet-derived growth factor bindingGO:0484079.0PDGFRA, PDGFRB

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

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Sources for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet