MCID: HYP319
MIFTS: 31

Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib malady

Blood diseases, Cancer diseases categories

Summaries for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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46OMIM, 32MalaCards
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MalaCards: Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib, also known as idiopathic hypereosinophilic syndrome, is related to endomyocardial fibrosis and hypereosinophilic syndrome. 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:46 607685

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

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46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
idiopathic hypereosinophilic syndrome:
Prevalence: 1-5/10000; Age of onset: Adulthood


Aliases & Descriptions:

hypereosinophilic syndrome, idiopathic, resistant to imatinib 46
idiopathic hypereosinophilic syndrome 48 60


External Ids:

OMIM46 607685
ICD10 via Orphanet26 D47.5
SNOMED-CT via Orphanet57 414450004, 423294001
UMLS via Orphanet61 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 68)
idRelated DiseaseScoreTop Affiliating Genes
1endomyocardial fibrosis30.6PDGFRA, FIP1L1
2hypereosinophilic syndrome30.5PDGFRB, PDGFRA, FIP1L1
3eosinophilia30.5PDGFRA, PDGFRB, FIP1L1
4systemic mastocytosis30.1PDGFRA, PDGFRB
5leukemia10.5
6cerebritis10.4
7restrictive cardiomyopathy10.3
8cardiac tamponade10.3
9eosinophilic gastroenteritis10.3
10acute leukemia10.3
11arthritis10.3
12gastroenteritis10.3
13myocarditis10.3
14pericarditis10.3
15image syndrome10.3
16myelitis10.1
17biliary atresia10.1
18coronary aneurysm10.1
19cellulitis10.1
20portal vein thrombosis10.1
21central pontine myelinolysis10.1
22churg-strauss syndrome10.1
23sclerosing cholangitis10.1
24n syndrome10.1
25constrictive pericarditis10.1
26acute myocarditis10.1
27bursitis10.1
28cholangitis10.1
29disseminated intravascular coagulation10.1
30encephalitis10.1
31endocarditis10.1
32hypertension10.1
33liver disease10.1
34myocardial infarction10.1
35myositis10.1
36neuropathy10.1
37peripheral neuropathy10.1
38polyneuropathy10.1
39rheumatoid arthritis10.1
40chronic myeloproliferative disease10.0PDGFRB
41uterine sarcoma10.0PDGFRB
42gliosarcoma10.0PDGFRB
43dermatofibrosarcoma protuberans10.0PDGFRB
44fibromatosis10.0PDGFRB
45pilocytic astrocytoma10.0PDGFRB
46juvenile myelomonocytic leukemia10.0PDGFRA
47angiosarcoma10.0PDGFRA
48arteriosclerosis10.0PDGFRA
49endometrial stromal sarcoma10.0PDGFRB, PDGFRA
50chronic myelomonocytic leukemia10.0PDGFRB, PDGFRA

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

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46OMIM
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Clinical features from OMIM:

607685

Clinical synopsis from OMIM:

607685

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

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5CenterWatch, 41NIH 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

Search CenterWatch 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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Genetic 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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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

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12EMD Millipore, 51QIAGEN, 29KEGG, 53Reactome, 4Cell Signaling Technology, 37NCBI BioSystems Database, 49PharmGKB, 52R&D Systems, 59Tocris 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
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9.3PDGFRB, PDGFRA
79.3PDGFRB, PDGFRA
8
Hide members
9.3PDGFRA, PDGFRB
9
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9.3PDGFRA, PDGFRB
10
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9.3PDGFRA, PDGFRB
11
Cytoskeleton remodeling Role of PDGFs in cell migration
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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
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9.3PDGFRA, PDGFRB
239.3PDGFRA, PDGFRB

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

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Sources:
11DrugBank, 59Tocris Bioscience, 44Novoseek, 24HMDB, 49PharmGKB
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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 dihydrochloride599.6PDGFRB, PDGFRA
3su 16f599.6PDGFRB, PDGFRA
4su 6668599.6PDGFRB, PDGFRA
5sunitinib malate599.5PDGFRB, PDGFRA
6pkc 412449.5PDGFRB, PDGFRA
7ag-1296449.4PDGFRA, PDGFRB
8Pazopanib119.4PDGFRA, PDGFRB
9Regorafenib119.3PDGFRB, PDGFRA
10calcitriol44 59 11 2412.3PDGFRA, PDGFRB
11sunitinib44 49 1111.2PDGFRA, PDGFRB
12tgf beta1449.0PDGFRA, PDGFRB
13imatinib44 49 1110.7FIP1L1, 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 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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet