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, 26GTR, 30ICD10 via Orphanet, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

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

Name: Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib 51 12
Idiopathic Hypereosinophilic Syndrome 53 26 49 67
 
Hypereosinophilic Syndrome, Idiopathic 51

Characteristics:

Orphanet epidemiological data:

53

HPO:

63
hypereosinophilic syndrome, idiopathic, resistant to imatinib:
Inheritance: somatic mutation, sporadic

Classifications:



External Ids:

OMIM51 607685
Orphanet53 ORPHA3260
ICD10 via Orphanet30 D47.5
UMLS via Orphanet68 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 relapsing epidemic typhus, and has symptoms including abnormality of the nervous system, pruritus and restrictive cardiomyopathy. 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 Vemurafenib Pathway, Pharmacodynamics and Alzheimers Disease Pathway. Related mouse phenotypes are neoplasm and digestive/alimentary.

Description from OMIM:51 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 62)
idRelated DiseaseScoreTop Affiliating Genes
1hypereosinophilic syndrome11.3
2relapsing epidemic typhus10.3KIT, PDGFRA
3vagina leiomyosarcoma10.3KIT, PDGFRA
4malignant biphasic mesothelioma10.3KIT, PDGFRA
5filamentary keratitis10.3KIT, PDGFRA
6lateral medullary syndrome10.3KIT, PDGFRA
7prostate small cell carcinoma10.3KIT, PDGFRA
8pura syndrome10.3KIT, PDGFRA
9mercaptolactate-cysteine disulfiduria10.3KIT, PDGFRA
10mastroiacovo de rosa satta syndrome10.3KIT, PDGFRA
11corneal granular dystrophy10.3FIP1L1, KIT
12pancreatic agenesis10.3KIT, PDGFRA
13malignant fibrous histiocytoma of bone10.3KIT, PDGFRA
14multidrug-resistant tuberculosis10.2KIT, PDGFRA
15caroli disease10.2KIT, PDGFRA
16severe nonproliferative diabetic retinopathy10.2IL3, IL5
17contagious pustular dermatitis10.2PDGFRA, TGFA
18fungal gastritis10.2IL3, IL5
19alg12-congenital disorder of glycosylation10.2KIT, PDGFRB
20thomsen and becker disease10.2IL3, IL5
21merkel cell carcinoma10.1FIP1L1, IL5, PDGFRA
22paranasal sinus cancer, childhood10.1KIT, TGFA
23dentinogenesis imperfecta, shields type ii10.1KIT, PDGFRA
24autoimmune neuropathy10.1IL3, IL5
25acquired porencephaly10.1FIP1L1, PDGFRA, PDGFRB
26type c thymoma10.1KIT, PDGFRA
27central cloudy dystrophy of francois10.1FIP1L1, PDGFRA, PDGFRB
28restrictive cardiomyopathy10.1KIT, PDGFRA
29male reproductive system disease10.0FIP1L1, KIT, PDGFRA
30diffuse cutaneous mastocytosis10.0FIP1L1, KIT, PDGFRA
31duodenal obstruction10.0FIP1L1, KIT, PDGFRA
32neutrophil immunodeficiency syndrome10.0PDGFRA, PDGFRB
33cell type cancer10.0KIT, PDGFRA
34localized osteosarcoma9.9KIT, PDGFRA, PDGFRB
35desmoplastic infantile astrocytoma9.9KIT, PDGFRA, PDGFRB
36gastrointestinal stromal tumor9.9KIT, PDGFRA, PDGFRB
37dysembryoplastic neuroepithelial tumor9.9KIT, WT1
38anus leiomyosarcoma9.9PDGFRA, WT1
39exophthalmos9.9IL3, IL5
40vulvar liposarcoma9.9KIT, WT1
41breast squamous cell carcinoma9.8KIT, WT1
42vulvar sebaceous carcinoma9.8KIT, WT1
43hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation9.8KIT, WT1
44central nervous system rhabdomyosarcoma9.8KIT, WT1
45pulmonary immaturity9.8KIT, WT1
46hypotrichosis simplex9.7FIP1L1, IL5, PDGFRA, PDGFRB
47alternating exotropia9.7IL3, IL5
48temporal lobe epilepsy9.6FIP1L1, KIT, PDGFRA, PDGFRB
49epithelioid leiomyosarcoma9.6KIT, PDGFRA, WT1
50angiokeratoma circumscriptum9.6KIT, PDGFRA, 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 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:

 63 (show all 11)
id Description HPO Frequency HPO Source Accession
1 abnormality of the nervous system63 HP:0000707
2 pruritus63 HP:0000989
3 restrictive cardiomyopathy63 HP:0001723
4 splenomegaly63 HP:0001744
5 eosinophilia63 HP:0001880
6 pulmonary infiltrates63 HP:0002113
7 hepatomegaly63 HP:0002240
8 myalgia63 HP:0003326
9 venous thrombosis63 HP:0004936
10 myeloproliferative disorder63 HP:0005547
11 endocardial fibrosis63 HP:0006685

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


hepatomegaly, pruritus, myalgia

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 23612
2Imatinib MesylatePhase 1, Phase 2594123596

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 Syndrome26

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

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1IL5, KIT, PDGFRA, WT1
2MP:00053819.1IL5, KIT, PDGFRA, PDGFRB, TGFA
3MP:00053808.8IL5, KIT, PDGFRA, PDGFRB, WT1
4MP:00053698.6KIT, PDGFRA, PDGFRB, TGFA, WT1
5MP:00053878.3IL5, KIT, PDGFRA, PDGFRB, TGFA, WT1
6MP:00053897.4IL5, KIT, PDGFRA, PDGFRB, TGFA, WT1

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 27)
idSuper pathwaysScoreTop Affiliating Genes
19.7PDGFRA, PDGFRB
29.7PDGFRA, PDGFRB
39.7PDGFRA, PDGFRB
49.7PDGFRA, PDGFRB
59.6KIT, PDGFRA
6
Show member pathways
9.3IL5, PDGFRA, PDGFRB
7
Show member pathways
9.2KIT, PDGFRA, PDGFRB
89.2KIT, PDGFRA, PDGFRB
9
Show member pathways
9.2PDGFRA, PDGFRB, TGFA
108.9IL3, IL5, KIT
118.9IL3, IL5, KIT
128.7IL3, PDGFRA, WT1
138.6KIT, PDGFRA, PDGFRB, TGFA
148.6KIT, PDGFRA, PDGFRB, TGFA
158.6IL3, PDGFRB, WT1
168.5IL3, KIT, PDGFRA, PDGFRB
178.5IL3, PDGFRA, PDGFRB, TGFA
18
Show member pathways
8.1IL3, IL5, KIT, PDGFRA, PDGFRB
19
Show member pathways
8.0IL3, KIT, PDGFRA, PDGFRB, TGFA
20
Show member pathways
8.0IL3, KIT, PDGFRA, PDGFRB, TGFA
21
Show member pathways
8.0IL3, KIT, PDGFRA, PDGFRB, TGFA
22
Show member pathways
8.0IL3, KIT, PDGFRA, PDGFRB, TGFA
23
Show member pathways
8.0IL3, KIT, PDGFRA, PDGFRB, TGFA
24
Show member pathways
7.6IL3, IL5, KIT, PDGFRA, PDGFRB, TGFA
25
Show member pathways
7.6IL3, IL5, KIT, PDGFRA, PDGFRB, TGFA
26
Show member pathways
7.6IL3, IL5, KIT, PDGFRA, PDGFRB, TGFA
27
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 29)
idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular capillary formationGO:007227710.3PDGFRA, PDGFRB
2positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayGO:003809110.3PDGFRA, PDGFRB
3platelet-derived growth factor receptor signaling pathwayGO:004800810.2PDGFRA, PDGFRB
4cardiac myofibril assemblyGO:005500310.2PDGFRA, PDGFRB
5positive regulation of fibroblast proliferationGO:004814610.1PDGFRA, PDGFRB
6retina vasculature development in camera-type eyeGO:006129810.1PDGFRA, PDGFRB
7embryonic hemopoiesisGO:003516210.0IL3, KIT
8positive regulation of JAK-STAT cascadeGO:004642710.0IL5, KIT
9positive regulation of DNA replicationGO:00457409.9IL3, PDGFRA
10positive regulation of MAP kinase activityGO:00434069.9KIT, PDGFRB
11positive regulation of tyrosine phosphorylation of Stat5 proteinGO:00425239.9IL3, KIT
12positive regulation of phospholipase C activityGO:00108639.9KIT, PDGFRA, PDGFRB
13metanephric S-shaped body morphogenesisGO:00722849.8PDGFRB, WT1
14metanephric mesenchyme developmentGO:00720759.8PDGFRB, WT1
15positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.8KIT, PDGFRA, PDGFRB
16phosphatidylinositol phosphorylationGO:00468549.7KIT, PDGFRA, PDGFRB
17regulation of phosphatidylinositol 3-kinase signalingGO:00140669.7KIT, PDGFRA, PDGFRB
18phosphatidylinositol-mediated signalingGO:00480159.7KIT, PDGFRA, PDGFRB
19positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.6KIT, PDGFRA, PDGFRB
20protein autophosphorylationGO:00467779.6KIT, PDGFRA, PDGFRB
21cell chemotaxisGO:00603269.4KIT, PDGFRA, PDGFRB
22cytokine-mediated signaling pathwayGO:00192219.4IL3, IL5, KIT
23wound healingGO:00420609.3PDGFRA, PDGFRB, TGFA
24positive regulation of mitotic nuclear divisionGO:00458409.2PDGFRB, TGFA
25positive regulation of cell migrationGO:00303359.1KIT, PDGFRA, PDGFRB
26peptidyl-tyrosine phosphorylationGO:00181088.6IL3, IL5, KIT, PDGFRA, PDGFRB
27MAPK cascadeGO:00001658.3IL3, IL5, KIT, PDGFRA, PDGFRB
28positive regulation of GTPase activityGO:00435478.3IL3, IL5, KIT, PDGFRA, PDGFRB
29positive regulation of cell proliferationGO:00082847.6IL3, 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
1vascular endothelial growth factor bindingGO:003808510.2PDGFRA, PDGFRB
2platelet-derived growth factor receptor bindingGO:000516110.2PDGFRA, PDGFRB
3platelet-derived growth factor bindingGO:004840710.0PDGFRA, PDGFRB
4transmembrane receptor protein tyrosine kinase activityGO:00047149.6KIT, PDGFRA
5phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.6KIT, PDGFRA, PDGFRB
6growth factor activityGO:00080838.6IL3, IL5, TGFA
7protein tyrosine kinase activityGO:00047138.4IL3, IL5, KIT, PDGFRB
8Ras guanyl-nucleotide exchange factor activityGO:00050888.1IL3, IL5, KIT, PDGFRA, PDGFRB

Sources for Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet