MCID: HYP319
MIFTS: 39

Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib malady

Categories: Genetic diseases, Blood diseases, Rare diseases

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

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

Name: Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib 54 13
Idiopathic Hypereosinophilic Syndrome 56 29 52 69
Hypereosinophilic Syndrome, Idiopathic 54

Characteristics:

Orphanet epidemiological data:

56

HPO:

32
hypereosinophilic syndrome, idiopathic, resistant to imatinib:
Inheritance somatic mutation sporadic


Classifications:



External Ids:

OMIM 54 607685
Orphanet 56 ORPHA3260
ICD10 via Orphanet 34 D47.5
UMLS via Orphanet 70 C0206141

Summaries for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

MalaCards based summary : Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib, also known as idiopathic hypereosinophilic syndrome, is related to hypereosinophilic syndrome and lagophthalmos, and has symptoms including pruritus, myalgia and splenomegaly. An important gene associated with Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib is PDGFRA (Platelet Derived Growth Factor Receptor Alpha), and among its related pathways/superpathways are ERK Signaling and Activation of cAMP-Dependent PKA. The drugs Imatinib Mesylate and Protein Kinase Inhibitors have been mentioned in the context of this disorder. Related phenotypes are Increased shRNA abundance (Z-score > 2) and digestive/alimentary

Description from OMIM: 607685

Related Diseases for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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

(show top 50) (show all 66)
id Related Disease Score Top Affiliating Genes
1 hypereosinophilic syndrome 11.3
2 lagophthalmos 10.2 FIP1L1 PDGFRA
3 weaver syndrome 10.2 FIP1L1 PDGFRA
4 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 10.2 PDGFRA PDGFRB
5 invasive mole 10.2 KIT PDGFRA
6 uremic neuropathy 10.2 KIT PDGFRA
7 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.2 KIT PDGFRA
8 intracranial sinus thrombosis 10.2 FIP1L1 KIT
9 malignant epithelial mesothelioma 10.2 KIT PDGFRA
10 larynx leiomyosarcoma 10.2 KIT PDGFRA
11 rectum leiomyoma 10.2 KIT PDGFRA
12 pustulosis palmaris et plantaris 10.2 KIT PDGFRA
13 abdominal obesity-metabolic syndrome 10.2 PDGFRA PDGFRB
14 cerebral arterial disease 10.2 KIT PDGFRA
15 fragile x-associated tremor/ataxia syndrome 10.2 KIT PDGFRA
16 spastic paraplegia 3a, autosomal dominant 10.1 IL5 KIT
17 kidney clear cell sarcoma 10.1 KIT PDGFRA
18 choledochal cyst 10.1 IL3 IL5
19 fibrosarcoma 10.1 KIT PDGFRA
20 restrictive cardiomyopathy 10.1 FIP1L1 IL5 PDGFRA
21 multiple epiphyseal dysplasia due to collagen 9 anomaly 10.1 IL3 IL5
22 necrotizing gastritis 10.1 IL3 IL5
23 autosomal dominant proximal renal tubular acidosis 10.1 FIP1L1 PDGFRA PDGFRB
24 orbital margin, hypoplasia of 10.1 FIP1L1 PDGFRA PDGFRB
25 wells syndrome 10.1 KIT TGFA
26 focal epilepsy 10.1 FIP1L1 PDGFRA PDGFRB
27 ganglioneuroma 10.1 FIP1L1 KIT PDGFRA
28 olfactory nerve disease 10.1 FIP1L1 KIT PDGFRA
29 lymphocytic gastritis 10.1 IL3 IL5
30 dupuytren contracture 10.0 KIT PDGFRB
31 metal allergy 10.0 IL3 IL5
32 dfnb1 10.0 KIT PDGFRA PDGFRB
33 may-thurner syndrome 10.0 KIT PDGFRA PDGFRB
34 childhood malignant mesenchymoma 10.0 IL3 IL5
35 multifocal osteogenic sarcoma 10.0 KIT PDGFRA PDGFRB
36 gastrointestinal stromal tumor 10.0 KIT PDGFRA PDGFRB
37 choriocarcinoma 10.0 KIT WT1
38 dentinogenesis imperfecta, shields type ii 10.0 KIT PDGFRA
39 liver angiosarcoma 10.0 KIT WT1
40 diffuse glomerulonephritis 10.0 KIT WT1
41 hormone producing pituitary cancer 10.0 KIT WT1
42 orofaciodigital syndrome x 9.9 KIT WT1
43 pericoronitis 9.9 IL3 KIT
44 cone dystrophy 9.9 KIT WT1
45 temporomandibular ankylosis 9.9 FIP1L1 KIT PDGFRA PDGFRB
46 familial hyperaldosteronism 9.9 KIT WT1
47 small intestinal sarcoma 9.9 KIT PDGFRA WT1
48 brown-vialetto-van laere syndrome 9.9 KIT PDGFRA WT1
49 mitral valve stenosis 9.9 KIT PDGFRB
50 pneumonia 9.8 KIT WT1

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 & Phenotypes for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

Symptoms by clinical synopsis from OMIM:

607685

Clinical features from OMIM:

607685

Human phenotypes related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 pruritus 32 HP:0000989
2 myalgia 32 HP:0003326
3 splenomegaly 32 HP:0001744
4 hepatomegaly 32 HP:0002240
5 venous thrombosis 32 HP:0004936
6 abnormality of the nervous system 32 HP:0000707
7 eosinophilia 32 HP:0001880
8 pulmonary infiltrates 32 HP:0002113
9 myeloproliferative disorder 32 HP:0005547
10 restrictive cardiomyopathy 32 HP:0001723
11 endocardial fibrosis 32 HP:0006685

UMLS symptoms related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib:


pruritus, myalgia

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.68 WT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.68 KIT
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.68 WT1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.68 KIT TGFA WT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.68 KIT
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.68 TGFA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.68 KIT
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.68 WT1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.68 TGFA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.68 WT1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.68 KIT WT1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.68 WT1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.68 KIT
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.68 WT1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.68 WT1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.68 KIT TGFA WT1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.68 KIT
18 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.68 KIT

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.72 IL5 KIT PDGFRA PDGFRB TGFA
2 embryo MP:0005380 9.65 IL5 KIT PDGFRA PDGFRB WT1
3 immune system MP:0005387 9.63 WT1 IL5 KIT PDGFRA PDGFRB TGFA
4 muscle MP:0005369 9.35 KIT PDGFRA PDGFRB TGFA WT1
5 reproductive system MP:0005389 9.1 IL5 KIT PDGFRA PDGFRB TGFA WT1

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

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Imatinib Mesylate Phase 1, Phase 2 123596
2 Protein Kinase Inhibitors Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Study of Oral AMN107 in Adults With Chronic Myelogenous Leukemia (CML) or Other Blood Related Cancers Completed NCT00109707 Phase 1, Phase 2
2 A Study to Determine the Safety and Efficacy of Imatinib Mesylate in Patients With Idiopathic Hypereosinophilic Syndrome Terminated NCT00171860 Phase 2

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

Genetic Tests for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

Genetic tests related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib:

id Genetic test Affiliating Genes
1 Idiopathic Hypereosinophilic Syndrome 29

Anatomical Context for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

Publications for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

Variations for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

ClinVar genetic disease variations for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PDGFRA NM_006206.5(PDGFRA): c.2021C> T (p.Thr674Ile) single nucleotide variant Pathogenic rs121908587 GRCh37 Chromosome 4, 55144547: 55144547

Copy number variations for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 120036 18 19523559 19789027 Insertion LAMA3 Idiopathic hypereosinophilic syndrome
2 187722 4 53938619 54020599 Translate FIP1L1 Idiopathic hypereosinophilic syndrome

Expression for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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

Pathways for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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

(show all 31)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 IL3 IL5 KIT PDGFRA PDGFRB TGFA
2
Show member pathways
13.3 IL3 KIT PDGFRA PDGFRB TGFA
3
Show member pathways
13.23 IL3 IL5 KIT PDGFRA PDGFRB
4
Show member pathways
13.22 IL3 IL5 KIT PDGFRA PDGFRB TGFA
5
Show member pathways
13.09 IL3 IL5 KIT PDGFRA PDGFRB
6
Show member pathways
13.06 IL3 KIT PDGFRA PDGFRB TGFA
7
Show member pathways
13.01 IL3 KIT PDGFRA PDGFRB TGFA
8
Show member pathways
12.78 IL3 IL5 KIT PDGFRA PDGFRB TGFA
9
Show member pathways
12.76 KIT PDGFRA PDGFRB TGFA
10
Show member pathways
12.69 IL3 KIT PDGFRA PDGFRB TGFA
11
Show member pathways
12.65 IL3 KIT PDGFRA PDGFRB TGFA
12
Show member pathways
12.5 IL3 IL5 KIT PDGFRA PDGFRB TGFA
13 12.42 KIT PDGFRA PDGFRB TGFA
14 12.31 IL3 KIT PDGFRA PDGFRB
15
Show member pathways
12.21 IL5 PDGFRA PDGFRB
16
Show member pathways
12.18 KIT PDGFRA PDGFRB
17 11.86 IL3 PDGFRB WT1
18 11.78 IL3 IL5 KIT
19 11.66 IL3 IL5 KIT
20 11.57 PDGFRA PDGFRB TGFA
21 11.42 IL3 PDGFRA PDGFRB TGFA
22 11.37 KIT PDGFRA
23
Show member pathways
11.35 KIT PDGFRA PDGFRB
24 11.32 IL3 KIT
25 11.32 IL3 IL5
26 11.29 PDGFRA PDGFRB
27 11.25 KIT PDGFRA PDGFRB
28 11.08 IL3 IL5
29 11.08 KIT PDGFRA PDGFRB TGFA
30 10.95 PDGFRA PDGFRB
31 10.69 PDGFRA PDGFRB

GO Terms for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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

id Name GO ID Score Top Affiliating Genes
1 intrinsic component of plasma membrane GO:0031226 8.62 PDGFRA PDGFRB

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

(show all 35)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.83 IL3 IL5 KIT PDGFRA PDGFRB
2 positive regulation of cell migration GO:0030335 9.82 KIT PDGFRA PDGFRB
3 protein autophosphorylation GO:0046777 9.82 KIT PDGFRA PDGFRB
4 cytokine-mediated signaling pathway GO:0019221 9.8 IL3 IL5 KIT
5 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.77 KIT PDGFRA PDGFRB
6 phosphatidylinositol-mediated signaling GO:0048015 9.77 KIT PDGFRA PDGFRB
7 male gonad development GO:0008584 9.76 KIT PDGFRB WT1
8 phosphatidylinositol phosphorylation GO:0046854 9.75 KIT PDGFRA PDGFRB
9 wound healing GO:0042060 9.74 PDGFRA PDGFRB TGFA
10 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.7 IL3 IL5 TGFA
11 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.69 KIT PDGFRA PDGFRB
12 positive regulation of fibroblast proliferation GO:0048146 9.67 PDGFRA PDGFRB
13 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.66 IL3 KIT
14 positive regulation of DNA replication GO:0045740 9.66 IL3 PDGFRA
15 platelet-derived growth factor receptor signaling pathway GO:0048008 9.65 PDGFRA PDGFRB
16 positive regulation of mitotic nuclear division GO:0045840 9.65 PDGFRB TGFA
17 cell chemotaxis GO:0060326 9.65 KIT PDGFRA PDGFRB
18 MAPK cascade GO:0000165 9.65 IL3 IL5 KIT PDGFRA PDGFRB
19 male genitalia development GO:0030539 9.64 PDGFRA WT1
20 positive regulation of JAK-STAT cascade GO:0046427 9.63 IL5 KIT
21 adrenal gland development GO:0030325 9.63 PDGFRA WT1
22 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.63 KIT PDGFRA PDGFRB
23 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.62 IL3 KIT
24 embryonic hemopoiesis GO:0035162 9.61 IL3 KIT
25 cardiac myofibril assembly GO:0055003 9.61 PDGFRA PDGFRB
26 retina vasculature development in camera-type eye GO:0061298 9.56 PDGFRA PDGFRB
27 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 9.55 PDGFRA PDGFRB
28 metanephric mesenchyme development GO:0072075 9.54 PDGFRB WT1
29 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.5 KIT PDGFRA PDGFRB
30 metanephric S-shaped body morphogenesis GO:0072284 9.49 PDGFRB WT1
31 positive regulation of cell proliferation GO:0008284 9.43 IL3 IL5 KIT PDGFRA PDGFRB TGFA
32 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.4 PDGFRA PDGFRB
33 metanephric glomerular capillary formation GO:0072277 9.37 PDGFRA PDGFRB
34 positive regulation of phospholipase C activity GO:0010863 9.33 KIT PDGFRA PDGFRB
35 peptidyl-tyrosine phosphorylation GO:0018108 9.02 IL3 IL5 KIT PDGFRA PDGFRB

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

id Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.61 IL3 IL5 TGFA
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 KIT PDGFRA PDGFRB
3 platelet-derived growth factor receptor binding GO:0005161 9.4 PDGFRA PDGFRB
4 platelet-derived growth factor binding GO:0048407 9.37 PDGFRA PDGFRB
5 protein tyrosine kinase activity GO:0004713 9.35 IL3 IL5 KIT PDGFRA PDGFRB
6 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 KIT PDGFRA PDGFRB
7 vascular endothelial growth factor binding GO:0038085 9.26 PDGFRA PDGFRB
8 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.02 IL3 IL5 KIT PDGFRA PDGFRB

Sources for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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