HES-M
MCID: PRM149
MIFTS: 35

Primary Hypereosinophilic Syndrome (HES-M)

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Primary Hypereosinophilic Syndrome

MalaCards integrated aliases for Primary Hypereosinophilic Syndrome:

Name: Primary Hypereosinophilic Syndrome 59
Neoplastic Hypereosinophilic Syndrome 59
Clonal Hypereosinophilic Syndrome 59
Primary Hes 59
Hes-M 59
Hes-N 59

Characteristics:

Orphanet epidemiological data:

59
primary hypereosinophilic syndrome
Age of onset: All ages;

Classifications:



External Ids:

ICD10 via Orphanet 34 D47.5
Orphanet 59 ORPHA314950

Summaries for Primary Hypereosinophilic Syndrome

MalaCards based summary : Primary Hypereosinophilic Syndrome, also known as neoplastic hypereosinophilic syndrome, is related to endomyocardial fibrosis and loeffler endocarditis. An important gene associated with Primary Hypereosinophilic Syndrome is ETV6 (ETS Variant Transcription Factor 6), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and PI3K-Akt signaling pathway. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include whole blood, colon and heart, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Primary Hypereosinophilic Syndrome

Diseases in the Hypereosinophilic Syndrome family:

Secondary Hypereosinophilic Syndrome Primary Hypereosinophilic Syndrome

Diseases related to Primary Hypereosinophilic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 endomyocardial fibrosis 29.3 PDGFRA FIP1L1
2 loeffler endocarditis 28.7 PDGFRA FIP1L1 ETV6
3 hypereosinophilic syndrome 28.6 PDGFRB PDGFRA FIP1L1 FGFR1
4 myeloproliferative disorder, chronic, with eosinophilia 10.1 PDGFRB ETV6
5 myofibroma 10.1 PDGFRB ETV6
6 breast secretory carcinoma 10.1 FGFR1 ETV6
7 8p11 myeloproliferative syndrome 10.0 PDGFRB FGFR1
8 dysentery 9.9
9 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
10 pericarditis 9.9
11 fibrosis of extraocular muscles, congenital, 1 9.8
12 exanthem 9.8
13 endocarditis 9.8
14 optic neuritis 9.8
15 thrombocytopenia 9.8
16 neuritis 9.8
17 desmoid tumor 9.8 PDGFRB PDGFRA
18 heart sarcoma 9.8 PDGFRB PDGFRA
19 atypical chronic myeloid leukemia 9.7 PDGFRB PDGFRA
20 chronic myelomonocytic leukemia 9.7 PDGFRB ETV6
21 pdgfra-associated chronic eosinophilic leukemia 9.7 PDGFRA FIP1L1
22 spinal chordoma 9.7 PDGFRB PDGFRA
23 sm-ahnmd 9.7 PDGFRA FIP1L1
24 chordoma 9.7 PDGFRB PDGFRA
25 fibrosarcoma of bone 9.7 PDGFRB PDGFRA
26 leukemia, acute lymphoblastic 3 9.7 PDGFRA ETV6
27 hematologic cancer 9.6 PDGFRB FGFR1 ETV6
28 dermatofibrosarcoma protuberans 9.6 PDGFRB PDGFRA
29 budd-chiari syndrome 9.5 PDGFRA FIP1L1
30 leiomyosarcoma 9.5 PDGFRB PDGFRA
31 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 9.3 PDGFRB PDGFRA FGFR1
32 mastocytosis 9.3 PDGFRB PDGFRA FIP1L1
33 hypereosinophilic syndrome, idiopathic 9.2 PDGFRB PDGFRA FIP1L1
34 corneal dystrophy, subepithelial mucinous 9.2 PDGFRB PDGFRA FIP1L1
35 glioma 9.2 PDGFRB PDGFRA FGFR1
36 polycythemia vera 9.2 PDGFRB PDGFRA
37 glioblastoma 9.2 PDGFRB PDGFRA FGFR1
38 ewing sarcoma 9.0 PDGFRB PDGFRA FGFR1
39 bone marrow cancer 8.9 PDGFRB PDGFRA FGFR1 ETV6
40 leukemia, chronic myeloid 8.9 PDGFRB PDGFRA FGFR1 ETV6
41 chronic eosinophilic leukemia 8.8 PDGFRB PDGFRA FIP1L1 FGFR1
42 systemic mastocytosis 8.8 PDGFRB PDGFRA FIP1L1 FGFR1
43 myeloproliferative neoplasm 8.8 PDGFRB PDGFRA FIP1L1 FGFR1

Graphical network of the top 20 diseases related to Primary Hypereosinophilic Syndrome:



Diseases related to Primary Hypereosinophilic Syndrome

Symptoms & Phenotypes for Primary Hypereosinophilic Syndrome

GenomeRNAi Phenotypes related to Primary Hypereosinophilic Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.77 PDGFRA
2 Decreased viability GR00221-A-1 9.77 FGFR1 PDGFRA PDGFRB
3 Decreased viability GR00221-A-2 9.77 FGFR1
4 Decreased viability GR00221-A-3 9.77 PDGFRA PDGFRB
5 Decreased viability GR00221-A-4 9.77 PDGFRA PDGFRB
6 Decreased viability GR00342-S-1 9.77 PDGFRB
7 Decreased viability GR00402-S-2 9.77 FGFR1 PDGFRA PDGFRB
8 Increased colony dispersion (increased number of colonies and decreased number of cells per colony) GR00212-A 8.62 FGFR1 PDGFRA

MGI Mouse Phenotypes related to Primary Hypereosinophilic Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.56 ETV6 FGFR1 PDGFRA PDGFRB
2 embryo MP:0005380 9.46 ETV6 FGFR1 PDGFRA PDGFRB
3 integument MP:0010771 9.26 ETV6 FGFR1 PDGFRA PDGFRB
4 normal MP:0002873 8.92 ETV6 FGFR1 PDGFRA PDGFRB

Drugs & Therapeutics for Primary Hypereosinophilic Syndrome

Drugs for Primary Hypereosinophilic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved 1401-55-4
2
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
3 Cola
4 Anesthetics, Local
5 Central Nervous System Depressants
6 Peripheral Nervous System Agents
7 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impact of Intravascular Fluid Resuscitation on Whole Blood Viscosity During Colon Surgery Unknown status NCT02770027 Intravenous Crystalloid;Intravenous HES
2 Impact of Intravascular Fluid Resuscitation on Whole Blood Viscosity During Cardiac Surgery Unknown status NCT02757118 Intravenous Crystalloid;Intravenous HES
3 Impact of Intravascular Fluid Resuscitation on Whole Blood Viscosity During CABG Surgery Unknown status NCT02757027 Intravenous Crystalloid;Intravenous HES
4 Impact of Intravascular Fluid Resuscitation on Whole Blood Viscosity During Coiling Embolization Procedure for Cerebral Artery Aneurysm Completed NCT02700607 Intravenous Crystalloid;Intravenous HES

Search NIH Clinical Center for Primary Hypereosinophilic Syndrome

Genetic Tests for Primary Hypereosinophilic Syndrome

Anatomical Context for Primary Hypereosinophilic Syndrome

MalaCards organs/tissues related to Primary Hypereosinophilic Syndrome:

41
Whole Blood, Colon, Heart

Publications for Primary Hypereosinophilic Syndrome

Articles related to Primary Hypereosinophilic Syndrome:

(show all 13)
# Title Authors PMID Year
1
Serum cytokine and chemokine levels in patients with eosinophilic granulomatosis with polyangiitis, hypereosinophilic syndrome, or eosinophilic asthma. 38
30652675 2019
2
Endomyocardial fibrosis complicating primary hypereosinophilic syndrome. 38
30006894 2018
3
Purtscher-like retinopathy and primary hypereosinophilic syndrome association. 38
25389731 2012
4
Purtscher-like retinopathy associated with primary hypereosinophilic syndrome. 38
25391073 2009
5
Episcleris, arthrofasciitis and hypereosinophilia: primary hypereosinophilic syndrome or atypical Wegener's granulomatosis? 38
17589852 2007
6
The efficacy of imatinib mesylate in patients with FIP1L1-PDGFRalpha-positive hypereosinophilic syndrome. Results of a multicenter prospective study. 38
17666373 2007
7
Apoptosis induction by retinoids in eosinophilic leukemia cells: implication of retinoic acid receptor-alpha signaling in all-trans-retinoic acid hypersensitivity. 38
16778211 2006
8
[Primary hypereosinophilic syndrome]. 38
16760844 2006
9
Recurrent optic neuritis as the presenting manifestation of primary hypereosinophilic syndrome: a report of two cases. 38
15937435 2005
10
Pathologic quiz case: a young woman with eosinophilia and heart failure. Primary hypereosinophilic syndrome with loeffler endocarditis. 38
15628926 2005
11
The role of eosinophils in the pathobiology of Hodgkin's disease. 38
9209649 1997
12
Progesterone-responsive urticaria and eosinophilia. 38
2778236 1989
13
[Idiopathic or primary hypereosinophilic syndrome. Description of 6 cases and review of the literature]. 38
3072631 1988

Variations for Primary Hypereosinophilic Syndrome

Expression for Primary Hypereosinophilic Syndrome

Search GEO for disease gene expression data for Primary Hypereosinophilic Syndrome.

Pathways for Primary Hypereosinophilic Syndrome

Pathways related to Primary Hypereosinophilic Syndrome according to GeneCards Suite gene sharing:

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 PDGFRB PDGFRA FGFR1
2
Show member pathways
12.65 PDGFRB PDGFRA FGFR1
3
Show member pathways
12.54 PDGFRB PDGFRA FGFR1
4
Show member pathways
12.54 PDGFRB PDGFRA FGFR1
5 12.5 PDGFRB PDGFRA FGFR1
6 12.42 PDGFRB PDGFRA FGFR1
7
Show member pathways
12.39 PDGFRB PDGFRA FGFR1
8
Show member pathways
12.37 PDGFRB PDGFRA FGFR1
9
Show member pathways
12.36 PDGFRB PDGFRA FGFR1
10 12.29 PDGFRB PDGFRA FGFR1
11
Show member pathways
12.15 PDGFRB PDGFRA FGFR1
12
Show member pathways
12.06 PDGFRB PDGFRA FGFR1
13
Show member pathways
12.05 PDGFRB PDGFRA FGFR1
14
Show member pathways
11.92 PDGFRB PDGFRA FGFR1
15
Show member pathways
11.86 PDGFRB PDGFRA FGFR1
16 11.74 PDGFRB PDGFRA FGFR1
17 11.68 PDGFRB PDGFRA
18 11.67 PDGFRB PDGFRA FGFR1
19 11.58 PDGFRB PDGFRA
20
Show member pathways
11.53 PDGFRB FGFR1
21 11.5 PDGFRA FGFR1
22 11.39 PDGFRB PDGFRA FGFR1
23 11.38 PDGFRB PDGFRA FGFR1
24 11.17 PDGFRB PDGFRA FGFR1
25 11.03 PDGFRB PDGFRA FGFR1
26 10.79 PDGFRB PDGFRA
27 10.79 PDGFRB PDGFRA FGFR1
28 10.7 PDGFRB PDGFRA FGFR1
29 10.51 PDGFRB PDGFRA
30 10.43 PDGFRB PDGFRA FGFR1

GO Terms for Primary Hypereosinophilic Syndrome

Cellular components related to Primary Hypereosinophilic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intrinsic component of plasma membrane GO:0031226 8.96 PDGFRB PDGFRA
2 receptor complex GO:0043235 8.8 PDGFRB PDGFRA FGFR1

Biological processes related to Primary Hypereosinophilic Syndrome according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.81 PDGFRB PDGFRA FGFR1
2 protein phosphorylation GO:0006468 9.81 PDGFRB PDGFRA FGFR1
3 positive regulation of cell proliferation GO:0008284 9.77 PDGFRB PDGFRA FGFR1
4 MAPK cascade GO:0000165 9.7 PDGFRB PDGFRA FGFR1
5 cell migration GO:0016477 9.67 PDGFRB PDGFRA FGFR1
6 peptidyl-tyrosine phosphorylation GO:0018108 9.65 PDGFRB PDGFRA FGFR1
7 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.63 PDGFRB PDGFRA
8 protein autophosphorylation GO:0046777 9.63 PDGFRB PDGFRA FGFR1
9 wound healing GO:0042060 9.62 PDGFRB PDGFRA
10 lung development GO:0030324 9.62 PDGFRA FGFR1
11 cell chemotaxis GO:0060326 9.61 PDGFRB PDGFRA
12 positive regulation of protein kinase B signaling GO:0051897 9.61 PDGFRB PDGFRA FGFR1
13 positive regulation of MAP kinase activity GO:0043406 9.59 PDGFRB FGFR1
14 positive regulation of fibroblast proliferation GO:0048146 9.58 PDGFRB PDGFRA
15 skeletal system morphogenesis GO:0048705 9.58 PDGFRA FGFR1
16 positive regulation of MAPK cascade GO:0043410 9.58 PDGFRB PDGFRA FGFR1
17 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.57 PDGFRB PDGFRA
18 platelet-derived growth factor receptor signaling pathway GO:0048008 9.56 PDGFRB PDGFRA
19 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.54 PDGFRB PDGFRA
20 cardiac myofibril assembly GO:0055003 9.51 PDGFRB PDGFRA
21 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.5 PDGFRB PDGFRA FGFR1
22 retina vasculature development in camera-type eye GO:0061298 9.37 PDGFRB PDGFRA
23 negative regulation of apoptotic process GO:0043066 9.3 PDGFRB
24 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.26 PDGFRB PDGFRA
25 cell differentiation GO:0030154 9.25 ETV6
26 metanephric glomerular capillary formation GO:0072277 9.16 PDGFRB PDGFRA
27 phosphatidylinositol-mediated signaling GO:0048015 9.13 PDGFRB PDGFRA FGFR1
28 positive regulation of phospholipase C activity GO:0010863 8.8 PDGFRB PDGFRA FGFR1

Molecular functions related to Primary Hypereosinophilic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.61 PDGFRB PDGFRA FGFR1
2 protein kinase activity GO:0004672 9.58 PDGFRB PDGFRA FGFR1
3 nucleotide binding GO:0000166 9.54 PDGFRB PDGFRA FGFR1
4 protein tyrosine kinase activity GO:0004713 9.43 PDGFRB PDGFRA FGFR1
5 platelet-derived growth factor receptor binding GO:0005161 9.32 PDGFRB PDGFRA
6 platelet-derived growth factor binding GO:0048407 9.16 PDGFRB PDGFRA
7 vascular endothelial growth factor binding GO:0038085 8.96 PDGFRB PDGFRA
8 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.8 PDGFRB PDGFRA FGFR1

Sources for Primary Hypereosinophilic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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