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:
50OMIM, 52Orphanet, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib 50 12
Idiopathic Hypereosinophilic Syndrome 52 25 48 66
 
Hypereosinophilic Syndrome, Idiopathic 50

Characteristics:

Orphanet epidemiological data:

52

HPO:

62
hypereosinophilic syndrome, idiopathic, resistant to imatinib:
Inheritance: somatic mutation, sporadic


Classifications:



External Ids:

OMIM50 607685
Orphanet52 ORPHA3260
ICD10 via Orphanet29 D47.5
UMLS via Orphanet67 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 hepatomegaly, hepatomegaly and pruritus. 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:50 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 64)
idRelated DiseaseScoreTop Affiliating Genes
1hypereosinophilic syndrome11.6
2relapsing epidemic typhus10.4KIT, PDGFRA
3vagina leiomyosarcoma10.4KIT, PDGFRA
4malignant biphasic mesothelioma10.4KIT, PDGFRA
5filamentary keratitis10.4KIT, PDGFRA
6lateral medullary syndrome10.4KIT, PDGFRA
7prostate small cell carcinoma10.4KIT, PDGFRA
8pura syndrome10.4KIT, PDGFRA
9mercaptolactate-cysteine disulfiduria10.4KIT, 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 tuberculosis10.3KIT, PDGFRA
15caroli disease10.3KIT, PDGFRA
16severe nonproliferative diabetic retinopathy10.2IL3, IL5
17contagious pustular dermatitis10.2PDGFRA, TGFA
18fungal gastritis10.2IL3, IL5
19thomsen and becker disease10.2IL3, IL5
20alg12-congenital disorder of glycosylation10.2KIT, PDGFRB
21merkel cell carcinoma10.2FIP1L1, IL5, PDGFRA
22paranasal sinus cancer, childhood10.2KIT, TGFA
23dentinogenesis imperfecta, shields type ii10.2KIT, PDGFRA
24retroperitoneal cancer10.2IL3, IL5
25autoimmune neuropathy10.1IL3, IL5
26acquired porencephaly10.1FIP1L1, PDGFRA, PDGFRB
27type c thymoma10.1KIT, PDGFRA
28central cloudy dystrophy of francois10.1FIP1L1, PDGFRA, PDGFRB
29restrictive cardiomyopathy10.1KIT, PDGFRA
30male reproductive system disease10.1FIP1L1, KIT, PDGFRA
31diffuse cutaneous mastocytosis10.1FIP1L1, KIT, PDGFRA
32duodenal obstruction10.1FIP1L1, KIT, PDGFRA
33neutrophil immunodeficiency syndrome10.0PDGFRA, PDGFRB
34cell type cancer10.0KIT, PDGFRA
35localized osteosarcoma10.0KIT, PDGFRA, PDGFRB
36desmoplastic infantile astrocytoma10.0KIT, PDGFRA, PDGFRB
37gastrointestinal stromal tumor10.0KIT, PDGFRA, PDGFRB
38gestational trophoblastic neoplasm9.9KIT, WT1
39dysembryoplastic neuroepithelial tumor9.9KIT, WT1
40anus leiomyosarcoma9.9PDGFRA, WT1
41exophthalmos9.9IL3, IL5
42vulvar liposarcoma9.9KIT, WT1
43breast squamous cell carcinoma9.8KIT, WT1
44vulvar sebaceous carcinoma9.8KIT, WT1
45hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation9.8KIT, WT1
46central nervous system rhabdomyosarcoma9.8KIT, WT1
47pulmonary immaturity9.8KIT, WT1
48hypotrichosis simplex9.7FIP1L1, IL5, PDGFRA, PDGFRB
49alternating exotropia9.7IL3, IL5
50temporal lobe epilepsy9.6FIP1L1, KIT, PDGFRA, PDGFRB

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

HPO human phenotypes related to Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib:

(show all 11)
id Description Frequency HPO Source Accession
1 abnormality of the nervous system HP:0000707
2 pruritus HP:0000989
3 restrictive cardiomyopathy HP:0001723
4 splenomegaly HP:0001744
5 eosinophilia HP:0001880
6 pulmonary infiltrates HP:0002113
7 hepatomegaly HP:0002240
8 myalgia HP:0003326
9 venous thrombosis HP:0004936
10 myeloproliferative disorder HP:0005547
11 endocardial fibrosis 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
1Imatinib MesylatePhase 1, Phase 2588123596

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 Syndrome25

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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8IL5, KIT, PDGFRA, WT1
2MP:00053818.6IL5, KIT, PDGFRA, PDGFRB, TGFA
3MP:00053808.3IL5, KIT, PDGFRA, PDGFRB, WT1
4MP:00053698.2KIT, PDGFRA, PDGFRB, TGFA, WT1
5MP:00053877.9IL5, KIT, PDGFRA, PDGFRB, TGFA, WT1
6MP:00053897.8IL5, 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
3
Show member pathways
9.7PDGFRA, 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:007227710.4PDGFRA, 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
5retina vasculature development in camera-type eyeGO:006129810.1PDGFRA, PDGFRB
6positive regulation of fibroblast proliferationGO:004814610.1PDGFRA, PDGFRB
7positive regulation of JAK-STAT cascadeGO:004642710.0IL5, KIT
8embryonic hemopoiesisGO:003516210.0IL3, 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
12metanephric S-shaped body morphogenesisGO:00722849.9PDGFRB, WT1
13positive regulation of phospholipase C activityGO:00108639.9KIT, PDGFRA, PDGFRB
14metanephric mesenchyme developmentGO:00720759.8PDGFRB, WT1
15phosphatidylinositol phosphorylationGO:00468549.7KIT, PDGFRA, PDGFRB
16positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.7KIT, PDGFRA, PDGFRB
17regulation of phosphatidylinositol 3-kinase signalingGO:00140669.7KIT, PDGFRA, PDGFRB
18phosphatidylinositol-mediated signalingGO:00480159.7KIT, PDGFRA, PDGFRB
19protein autophosphorylationGO:00467779.6KIT, PDGFRA, PDGFRB
20positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.6KIT, PDGFRA, PDGFRB
21cell chemotaxisGO:00603269.5KIT, PDGFRA, PDGFRB
22positive regulation of mitotic nuclear divisionGO:00458409.4PDGFRB, TGFA
23cytokine-mediated signaling pathwayGO:00192219.3IL3, IL5, KIT
24positive regulation of cell migrationGO:00303359.3KIT, PDGFRA, PDGFRB
25wound healingGO:00420609.2PDGFRA, PDGFRB, TGFA
26peptidyl-tyrosine phosphorylationGO:00181088.5IL3, IL5, KIT, PDGFRA, PDGFRB
27MAPK cascadeGO:00001658.5IL3, IL5, KIT, PDGFRA, PDGFRB
28positive regulation of GTPase activityGO:00435478.1IL3, IL5, KIT, PDGFRA, PDGFRB
29positive regulation of cell proliferationGO:00082847.3IL3, 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
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
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.6KIT, PDGFRA, PDGFRB
5transmembrane receptor protein tyrosine kinase activityGO:00047149.5KIT, PDGFRA
6growth factor activityGO:00080838.6IL3, IL5, TGFA
7protein tyrosine kinase activityGO:00047138.5IL3, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet