MCID: HYP319
MIFTS: 34

Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib malady

Blood diseases, Cancer diseases, Rare diseases categories

Summaries for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

About this section


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

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

About this section
Sources:
46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

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

Name: Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib 46
 
Idiopathic Hypereosinophilic Syndrome 48 61


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 607685
ICD10 via Orphanet27 D47.5
UMLS via Orphanet62 C0206141

Related Diseases for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

About this section

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

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1hypereosinophilic syndrome31.6FIP1L1, PDGFRA, PDGFRB
2endomyocardial fibrosis30.9PDGFRA, FIP1L1
3leukemia30.5PDGFRB, PDGFRA, FIP1L1
4eosinophilia30.3FIP1L1, PDGFRA, PDGFRB
5systemic mastocytosis30.2PDGFRB, PDGFRA
6mastocytosis29.9PDGFRB, PDGFRA, FIP1L1
7cerebritis10.4
8restrictive cardiomyopathy10.4
9arthritis10.3
10cardiac tamponade10.3
11myelitis10.3
12eosinophilic gastroenteritis10.3
13gastroenteritis10.3
14myocarditis10.3
15pericarditis10.3
16acute leukemia10.1
17hypertension10.1
18liver disease10.1
19lymphoblastic lymphoma10.1
20myocardial infarction10.1
21rheumatoid arthritis10.1
22skin conditions10.1
23wilms tumor10.1
24sclerosing cholangitis10.1
25central pontine myelinolysis10.1
26biliary atresia10.1
27portal vein thrombosis10.1
28constrictive pericarditis10.1
29bursitis10.1
30cellulitis10.1
31cholangitis10.1
32colitis10.1
33cystitis10.1
34disseminated intravascular coagulation10.1
35encephalitis10.1
36endocarditis10.1
37myositis10.1
38neuropathy10.1
39peripheral neuropathy10.1
40polyneuropathy10.1
41acute myelomonocytic leukemia10.1
42aneurysm of sinus of valsalva10.1
43aquagenic pruritus10.1
44bone marrow necrosis10.1
45coronary artery aneurysm10.1
46eosinophilic cystitis10.1
47erythema elevatum diutinum10.1
48gianotti crosti syndrome10.1
49granulomatosis with polyangiitis10.1
50immunotactoid glomerulopathy10.1

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

About this section

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

About this section

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

About this section

Anatomical Context for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

About this section

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

About this section

Publications for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

About this section

Variations for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

About this section

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

About this section
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

About this section

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 pathway37
9.0PDGFRB, PDGFRA
3
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.0PDGFRB, PDGFRA
4
Show member pathways
9.0PDGFRB, PDGFRA
5
Show member pathways
9.0PDGFRB, PDGFRA
6
Show member pathways
Development EDNRB signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
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 regulation59
Development CNTF receptor signaling59
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades59
Translation Regulation activity of EIF259
Regulation of lipid metabolism Insulin signaling generic cascades59
Transcription PPAR Pathway59
Cell adhesion PLAU signaling59
Translation Regulation activity of EIF4F59
9.0PDGFRB, PDGFRA
17
Show member pathways
9.0PDGFRA, PDGFRB
18
Show member pathways
Development EGFR signaling via PIP359
Development PDGF signaling via MAPK cascades59
Apoptosis and survival Anti apoptotic action of membrane bound ESR159
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases59
Development Neurotrophin family signaling59
Apoptosis and survival NGF signaling pathway59
Apoptosis and survival Role of CDK5 in neuronal death and survival59
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 Pathway37
9.0PDGFRB, PDGFRA
259.0PDGFRB, PDGFRA
269.0PDGFRB, PDGFRA
27
Show member pathways
IL23-mediated signaling events37
Immune response IL 10 signaling pathway59
Angiopoietin receptor Tie2-mediated signaling37
Development PDGF signaling via STATs and NF kB59
Development Angiopoietin Tie2 signaling59
9.0PDGFRA, PDGFRB
289.0PDGFRB, PDGFRA
29
Show member pathways
Signaling Pathways in Glioblastoma37
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

About this section

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

(show all 16)
idCompoundScoreTop Affiliating Genes
1dmpq dihydrochloride609.3PDGFRA, PDGFRB
2su 16f609.3PDGFRA, PDGFRB
3su 6668609.3PDGFRA, PDGFRB
4sunitinib malate609.3PDGFRA, PDGFRB
5pkc 412449.3PDGFRA, PDGFRB
6ag-1296449.3PDGFRB, PDGFRA
7pazopanib50 1210.2PDGFRB, PDGFRA
8sunitinib44 50 1211.2PDGFRA, PDGFRB
9regorafenib50 1210.2PDGFRB, PDGFRA
10tgf beta1449.1PDGFRB, PDGFRA
11calcitriol44 60 25 1212.1PDGFRB, PDGFRA
12paraffin449.0PDGFRB, PDGFRA
13phosphotyrosine448.9PDGFRB, PDGFRA
14imatinib44 50 1210.8PDGFRB, PDGFRA, FIP1L1
15rapamycin448.7PDGFRB, PDGFRA
16tyrosine448.5FIP1L1, PDGFRA, PDGFRB

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet