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

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Sources:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

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

Name: Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib 52 12
Idiopathic Hypereosinophilic Syndrome 54 27 50 68
 
Hypereosinophilic Syndrome, Idiopathic 52

Characteristics:

Orphanet epidemiological data:

54

HPO:

64
hypereosinophilic syndrome, idiopathic, resistant to imatinib:
Inheritance: somatic mutation, sporadic

Classifications:



External Ids:

OMIM52 607685
Orphanet54 ORPHA3260
ICD10 via Orphanet31 D47.5
UMLS via Orphanet69 C0206141

Summaries for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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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, pruritus and myalgia. An important gene associated with Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib is PDGFRA (Platelet Derived Growth Factor Receptor Alpha), and among its related pathways are Alzheimers Disease Pathway and Cytoskeleton remodeling_Role of PDGFs in cell migration. Related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and digestive/alimentary.

Description from OMIM:52 607685

Related Diseases for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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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)
idRelated DiseaseScoreTop Affiliating Genes
1hypereosinophilic syndrome11.3
2lagophthalmos10.2FIP1L1, PDGFRA
3weaver syndrome10.2FIP1L1, PDGFRA
4myeloid and lymphoid neoplasms associated with fgfr1 abnormalities10.2PDGFRA, PDGFRB
5invasive mole10.2KIT, PDGFRA
6uremic neuropathy10.2KIT, PDGFRA
7amaurosis congenita, cone-rod type, with congenital hypertrichosis10.2KIT, PDGFRA
8intracranial sinus thrombosis10.2FIP1L1, KIT
9malignant epithelial mesothelioma10.2KIT, PDGFRA
10larynx leiomyosarcoma10.2KIT, PDGFRA
11rectum leiomyoma10.2KIT, PDGFRA
12pustulosis palmaris et plantaris10.2KIT, PDGFRA
13abdominal obesity-metabolic syndrome10.2PDGFRA, PDGFRB
14cerebral arterial disease10.2KIT, PDGFRA
15fragile x-associated tremor/ataxia syndrome10.2KIT, PDGFRA
16spastic paraplegia 3a, autosomal dominant10.1IL5, KIT
17kidney clear cell sarcoma10.1KIT, PDGFRA
18choledochal cyst10.1IL3, IL5
19fibrosarcoma10.1KIT, PDGFRA
20restrictive cardiomyopathy10.1FIP1L1, IL5, PDGFRA
21multiple epiphyseal dysplasia due to collagen 9 anomaly10.1IL3, IL5
22necrotizing gastritis10.1IL3, IL5
23autosomal dominant proximal renal tubular acidosis10.1FIP1L1, PDGFRA, PDGFRB
24orbital margin, hypoplasia of10.1FIP1L1, PDGFRA, PDGFRB
25wells syndrome10.1KIT, TGFA
26focal epilepsy10.1FIP1L1, PDGFRA, PDGFRB
27ganglioneuroma10.1FIP1L1, KIT, PDGFRA
28olfactory nerve disease10.1FIP1L1, KIT, PDGFRA
29lymphocytic gastritis10.1IL3, IL5
30dupuytren contracture10.0KIT, PDGFRB
31metal allergy10.0IL3, IL5
32dfnb110.0KIT, PDGFRA, PDGFRB
33may-thurner syndrome10.0KIT, PDGFRA, PDGFRB
34childhood malignant mesenchymoma10.0IL3, IL5
35multifocal osteogenic sarcoma10.0KIT, PDGFRA, PDGFRB
36gastrointestinal stromal tumor10.0KIT, PDGFRA, PDGFRB
37choriocarcinoma10.0KIT, WT1
38dentinogenesis imperfecta, shields type ii10.0KIT, PDGFRA
39liver angiosarcoma10.0KIT, WT1
40diffuse glomerulonephritis10.0KIT, WT1
41hormone producing pituitary cancer10.0KIT, WT1
42orofaciodigital syndrome x9.9KIT, WT1
43pericoronitis9.9IL3, KIT
44cone dystrophy9.9KIT, WT1
45temporomandibular ankylosis9.9FIP1L1, KIT, PDGFRA, PDGFRB
46familial hyperaldosteronism9.9KIT, WT1
47small intestinal sarcoma9.9KIT, PDGFRA, WT1
48brown-vialetto-van laere syndrome9.9KIT, PDGFRA, WT1
49mitral valve stenosis9.9KIT, PDGFRB
50pneumonia9.8KIT, 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

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Symptoms by clinical synopsis from OMIM:

607685

Clinical features from OMIM:

607685

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

 64 (show all 11)
id Description HPO Frequency HPO Source Accession
1 abnormality of the nervous system64 HP:0000707
2 pruritus64 HP:0000989
3 restrictive cardiomyopathy64 HP:0001723
4 splenomegaly64 HP:0001744
5 eosinophilia64 HP:0001880
6 pulmonary infiltrates64 HP:0002113
7 hepatomegaly64 HP:0002240
8 myalgia64 HP:0003326
9 venous thrombosis64 HP:0004936
10 myeloproliferative disorder64 HP:0005547
11 endocardial fibrosis64 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
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.4KIT, TGFA, WT1

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.1IL5, KIT, PDGFRA, PDGFRB, TGFA
2MP:00053808.8IL5, KIT, PDGFRA, PDGFRB, WT1
3MP:00053698.6KIT, PDGFRA, PDGFRB, TGFA, WT1
4MP:00053878.3IL5, KIT, PDGFRA, PDGFRB, TGFA, WT1
5MP:00053897.4IL5, KIT, PDGFRA, PDGFRB, TGFA, WT1

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

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Protein Kinase InhibitorsPhase 1, Phase 23689
2Imatinib MesylatePhase 1, Phase 2600123596

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of Oral AMN107 in Adults With Chronic Myelogenous Leukemia (CML) or Other Blood Related CancersCompletedNCT00109707Phase 1, Phase 2
2A Study to Determine the Safety and Efficacy of Imatinib Mesylate in Patients With Idiopathic Hypereosinophilic SyndromeTerminatedNCT00171860Phase 2

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

Genetic Tests for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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

id Genetic test Affiliating Genes
1 Idiopathic Hypereosinophilic Syndrome27

Anatomical Context for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1120036181952355919789027InsertionLAMA3Idiopathic hypereosinophilic syndrome
218772245393861954020599TranslateFIP1L1Idiopathic hypereosinophilic syndrome

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

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

(show all 31)
idSuper pathwaysScoreTop Affiliating Genes
19.7PDGFRA, PDGFRB
29.7PDGFRA, PDGFRB
39.7PDGFRA, PDGFRB
49.6KIT, PDGFRA
59.4IL3, IL5
69.4IL3, IL5
79.3IL3, KIT
8
Show member pathways
9.3IL5, PDGFRA, PDGFRB
99.2KIT, PDGFRA, PDGFRB
10
Show member pathways
9.2KIT, PDGFRA, PDGFRB
11
Show member pathways
9.2KIT, PDGFRA, PDGFRB
12
Show member pathways
9.2PDGFRA, PDGFRB, TGFA
138.9IL3, IL5, KIT
148.9IL3, IL5, KIT
158.6KIT, PDGFRA, PDGFRB, TGFA
16
Show member pathways
8.6KIT, PDGFRA, PDGFRB, TGFA
178.6KIT, PDGFRA, PDGFRB, TGFA
188.6IL3, PDGFRB, WT1
198.5IL3, KIT, PDGFRA, PDGFRB
208.5IL3, PDGFRA, PDGFRB, TGFA
21
Show member pathways
8.1IL3, IL5, KIT, PDGFRA, PDGFRB
22
Show member pathways
8.1IL3, IL5, KIT, PDGFRA, PDGFRB
23
Show member pathways
8.0IL3, KIT, PDGFRA, PDGFRB, TGFA
24
Show member pathways
8.0IL3, KIT, PDGFRA, PDGFRB, TGFA
25
Show member pathways
8.0IL3, KIT, PDGFRA, PDGFRB, TGFA
26
Show member pathways
8.0IL3, KIT, PDGFRA, PDGFRB, TGFA
27
Show member pathways
8.0IL3, KIT, PDGFRA, PDGFRB, TGFA
28
Show member pathways
7.6IL3, IL5, KIT, PDGFRA, PDGFRB, TGFA
29
Show member pathways
7.6IL3, IL5, KIT, PDGFRA, PDGFRB, TGFA
30
Show member pathways
7.6IL3, IL5, KIT, PDGFRA, PDGFRB, TGFA
31
Show member pathways
7.6IL3, IL5, KIT, PDGFRA, PDGFRB, TGFA

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

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

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of plasma membraneGO:00312269.7PDGFRA, PDGFRB

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

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1cardiac myofibril assemblyGO:005500310.4PDGFRA, PDGFRB
2metanephric glomerular capillary formationGO:007227710.4PDGFRA, PDGFRB
3negative regulation of platelet-derived growth factor receptor-beta signaling pathwayGO:200058710.4PDGFRA, PDGFRB
4platelet-derived growth factor receptor signaling pathwayGO:004800810.4PDGFRA, PDGFRB
5positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayGO:003809110.4PDGFRA, PDGFRB
6positive regulation of fibroblast proliferationGO:004814610.4PDGFRA, PDGFRB
7retina vasculature development in camera-type eyeGO:006129810.3PDGFRA, PDGFRB
8positive regulation of DNA replicationGO:004574010.2IL3, PDGFRA
9positive regulation of JAK-STAT cascadeGO:004642710.2IL5, KIT
10positive regulation of mitotic nuclear divisionGO:004584010.2PDGFRB, TGFA
11embryonic hemopoiesisGO:003516210.1IL3, KIT
12adrenal gland developmentGO:003032510.1PDGFRA, WT1
13male genitalia developmentGO:003053910.1PDGFRA, WT1
14positive regulation of tyrosine phosphorylation of STAT proteinGO:004253110.0IL3, KIT
15positive regulation of tyrosine phosphorylation of Stat5 proteinGO:004252310.0IL3, KIT
16metanephric mesenchyme developmentGO:007207510.0PDGFRB, WT1
17metanephric S-shaped body morphogenesisGO:007228410.0PDGFRB, WT1
18cell chemotaxisGO:00603269.9KIT, PDGFRA, PDGFRB
19phosphatidylinositol phosphorylationGO:00468549.9KIT, PDGFRA, PDGFRB
20phosphatidylinositol-mediated signalingGO:00480159.9KIT, PDGFRA, PDGFRB
21positive regulation of cell migrationGO:00303359.9KIT, PDGFRA, PDGFRB
22positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.8KIT, PDGFRA, PDGFRB
23positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.8KIT, PDGFRA, PDGFRB
24positive regulation of phospholipase C activityGO:00108639.8KIT, PDGFRA, PDGFRB
25protein autophosphorylationGO:00467779.8KIT, PDGFRA, PDGFRB
26regulation of phosphatidylinositol 3-kinase signalingGO:00140669.7KIT, PDGFRA, PDGFRB
27cytokine-mediated signaling pathwayGO:00192219.7IL3, IL5, KIT
28transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071699.7KIT, PDGFRA, PDGFRB
29positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.6IL3, IL5, TGFA
30male gonad developmentGO:00085849.4KIT, PDGFRB, WT1
31wound healingGO:00420609.2PDGFRA, PDGFRB, TGFA
32MAPK cascadeGO:00001658.9IL3, IL5, KIT, PDGFRA, PDGFRB
33peptidyl-tyrosine phosphorylationGO:00181088.9IL3, IL5, KIT, PDGFRA, PDGFRB
34positive regulation of GTPase activityGO:00435478.8IL3, IL5, KIT, PDGFRA, PDGFRB
35positive regulation of cell proliferationGO:00082848.3IL3, IL5, KIT, PDGFRA, PDGFRB, TGFA

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:004840710.3PDGFRA, PDGFRB
2platelet-derived growth factor receptor bindingGO:000516110.3PDGFRA, PDGFRB
3phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.8KIT, PDGFRA, PDGFRB
4vascular endothelial growth factor bindingGO:00380859.7PDGFRA, PDGFRB
5growth factor activityGO:00080839.6IL3, IL5, TGFA
6transmembrane receptor protein tyrosine kinase activityGO:00047149.2KIT, PDGFRA, PDGFRB
7protein tyrosine kinase activityGO:00047138.7IL3, IL5, KIT, PDGFRA, PDGFRB
8Ras guanyl-nucleotide exchange factor activityGO:00050888.6IL3, IL5, KIT, PDGFRA, PDGFRB

Sources for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet