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 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 Increased shRNA abundance (Z-score > 2) and neoplasm.

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 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 & 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:


hepatomegaly, 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-359.4KIT, 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: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

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 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 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
1cardiac myofibril assemblyGO:005500310.4PDGFRA, PDGFRB
2metanephric glomerular capillary formationGO:007227710.4PDGFRA, PDGFRB
3platelet-derived growth factor receptor signaling pathwayGO:004800810.4PDGFRA, PDGFRB
4positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayGO:003809110.4PDGFRA, PDGFRB
5positive regulation of fibroblast proliferationGO:004814610.4PDGFRA, PDGFRB
6positive regulation of DNA replicationGO:004574010.2IL3, PDGFRA
7positive regulation of JAK-STAT cascadeGO:004642710.2IL5, KIT
8retina vasculature development in camera-type eyeGO:006129810.2PDGFRA, PDGFRB
9positive regulation of MAP kinase activityGO:004340610.2KIT, PDGFRB
10positive regulation of mitotic nuclear divisionGO:004584010.1PDGFRB, TGFA
11embryonic hemopoiesisGO:003516210.1IL3, KIT
12positive regulation of tyrosine phosphorylation of Stat5 proteinGO:004252310.0IL3, KIT
13metanephric mesenchyme developmentGO:00720759.9PDGFRB, WT1
14metanephric S-shaped body morphogenesisGO:00722849.9PDGFRB, WT1
15cell chemotaxisGO:00603269.9KIT, PDGFRA, PDGFRB
16phosphatidylinositol phosphorylationGO:00468549.9KIT, PDGFRA, PDGFRB
17phosphatidylinositol-mediated signalingGO:00480159.9KIT, PDGFRA, PDGFRB
18positive regulation of cell migrationGO:00303359.9KIT, PDGFRA, PDGFRB
19positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.8KIT, PDGFRA, PDGFRB
20positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.8KIT, PDGFRA, PDGFRB
21positive regulation of phospholipase C activityGO:00108639.8KIT, PDGFRA, PDGFRB
22protein autophosphorylationGO:00467779.7KIT, PDGFRA, PDGFRB
23cytokine-mediated signaling pathwayGO:00192219.7IL3, IL5, KIT
24regulation of phosphatidylinositol 3-kinase signalingGO:00140669.7KIT, PDGFRA, PDGFRB
25wound healingGO:00420609.2PDGFRA, PDGFRB, TGFA
26MAPK cascadeGO:00001658.9IL3, IL5, KIT, PDGFRA, PDGFRB
27peptidyl-tyrosine phosphorylationGO:00181088.9IL3, IL5, KIT, PDGFRA, PDGFRB
28positive regulation of GTPase activityGO:00435478.8IL3, IL5, KIT, PDGFRA, PDGFRB
29positive 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
4transmembrane receptor protein tyrosine kinase activityGO:00047149.7KIT, PDGFRA
5vascular endothelial growth factor bindingGO:00380859.7PDGFRA, PDGFRB
6growth factor activityGO:00080839.6IL3, IL5, TGFA
7protein tyrosine kinase activityGO:00047139.0IL3, IL5, KIT, 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