HES-M
MCID: PRM149
MIFTS: 34

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 58
Neoplastic Hypereosinophilic Syndrome 58
Clonal Hypereosinophilic Syndrome 58
Primary Hes 58
Hes-M 58
Hes-N 58

Characteristics:

Orphanet epidemiological data:

58
primary hypereosinophilic syndrome
Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D47.5
Orphanet 58 ORPHA314950

Summaries for Primary Hypereosinophilic Syndrome

MalaCards based summary : Primary Hypereosinophilic Syndrome, also known as neoplastic hypereosinophilic syndrome, is related to hypereosinophilic syndrome 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 PI3K-Akt signaling pathway and Actin Nucleation by ARP-WASP Complex. 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 shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 hypereosinophilic syndrome 28.8 PDGFRB PDGFRA FIP1L1 FGFR1
2 loeffler endocarditis 28.8 PDGFRA FIP1L1 ETV6
3 endomyocardial fibrosis 28.7 PDGFRB PDGFRA FIP1L1
4 myofibroma 10.0 PDGFRB ETV6
5 infantile myofibromatosis 10.0 PDGFRB ETV6
6 myelodysplastic/myeloproliferative neoplasm 10.0 PDGFRB ETV6
7 8p11 myeloproliferative syndrome 10.0 PDGFRB FGFR1
8 dysentery 10.0
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 neuritis 9.8
16 cerebellar angioblastoma 9.8 PDGFRA ETV6
17 leukemia, acute lymphoblastic 3 9.8 PDGFRA ETV6
18 salivary gland carcinoma 9.7 FGFR1 ETV6
19 mesenchymal cell neoplasm 9.7 PDGFRB PDGFRA
20 desmoid tumor 9.7 PDGFRB PDGFRA
21 pdgfra-associated chronic eosinophilic leukemia 9.7 PDGFRA FIP1L1
22 costello syndrome 9.7 PDGFRB PDGFRA
23 giant cell glioblastoma 9.7 PDGFRA FGFR1
24 sm-ahnmd 9.7 PDGFRA FIP1L1
25 disseminated eosinophilic collagen disease 9.7 PDGFRA FIP1L1
26 neurilemmoma 9.7 PDGFRB PDGFRA
27 large cell carcinoma 9.6 PDGFRA FGFR1
28 myelofibrosis 9.6 PDGFRB FGFR1 ETV6
29 dermatofibrosarcoma protuberans 9.6 PDGFRB PDGFRA
30 budd-chiari syndrome 9.6 PDGFRA FIP1L1
31 myeloproliferative disorder, chronic, with eosinophilia 9.6 PDGFRB FIP1L1 ETV6
32 mastocytosis, cutaneous 9.6 PDGFRA FIP1L1
33 leiomyosarcoma 9.6 PDGFRB PDGFRA
34 hematologic cancer 9.6 PDGFRB FGFR1 ETV6
35 grade iii astrocytoma 9.5 PDGFRB PDGFRA
36 chordoma 9.5 PDGFRB PDGFRA
37 chronic myelomonocytic leukemia 9.4 PDGFRB PDGFRA ETV6
38 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 9.4 PDGFRB PDGFRA FGFR1
39 brain stem glioma 9.4 PDGFRB PDGFRA FGFR1
40 glioma 9.4 PDGFRB PDGFRA FGFR1
41 gliosarcoma 9.4 PDGFRB PDGFRA FGFR1
42 sarcoma 9.4 PDGFRB PDGFRA FGFR1
43 ewing sarcoma 9.3 PDGFRB PDGFRA FGFR1
44 hypereosinophilic syndrome, idiopathic 9.3 PDGFRB PDGFRA FIP1L1
45 restrictive cardiomyopathy 9.3 PDGFRA FIP1L1
46 aggressive systemic mastocytosis 9.3 PDGFRB PDGFRA FIP1L1
47 chronic leukemia 9.3 PDGFRB PDGFRA FIP1L1
48 pancreatic adenocarcinoma 9.3 PDGFRB PDGFRA FGFR1
49 atypical chronic myeloid leukemia 9.1 PDGFRB PDGFRA FGFR1 ETV6
50 leukemia, chronic myeloid 9.0 PDGFRB PDGFRA FGFR1 ETV6

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 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 9.81 FGFR1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.81 FGFR1 PDGFRA
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.81 ETV6
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.81 ETV6
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.81 FGFR1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.81 ETV6 FGFR1 PDGFRA
7 Decreased viability GR00173-A 9.77 PDGFRA
8 Decreased viability GR00221-A-1 9.77 FGFR1 PDGFRA PDGFRB
9 Decreased viability GR00221-A-2 9.77 FGFR1
10 Decreased viability GR00221-A-3 9.77 PDGFRA PDGFRB
11 Decreased viability GR00221-A-4 9.77 PDGFRA PDGFRB
12 Decreased viability GR00249-S 9.77 PDGFRA
13 Decreased viability GR00342-S-1 9.77 PDGFRB
14 Decreased viability GR00386-A-1 9.77 FGFR1
15 Decreased viability GR00402-S-2 9.77 PDGFRA
16 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.26 ETV6 FGFR1 PDGFRA PDGFRB
2 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):


# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impact of Intravascular Fluid Resuscitation on Whole Blood Viscosity During Cardiac Surgery Unknown status NCT02757118 Intravenous Crystalloid;Intravenous HES
2 Impact of Intravascular Fluid Resuscitation on Whole Blood Viscosity During CABG Surgery Unknown status NCT02757027 Intravenous Crystalloid;Intravenous HES
3 Impact of Intravascular Fluid Resuscitation on Whole Blood Viscosity During Coiling Embolization Procedure for Cerebral Artery Aneurysm Completed NCT02700607 Intravenous Crystalloid;Intravenous HES
4 Impact of Intravascular Fluid Resuscitation on Whole Blood Viscosity During Colon Surgery Not yet recruiting NCT02770027 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:

40
Whole Blood, Colon, Heart

Publications for Primary Hypereosinophilic Syndrome

Articles related to Primary Hypereosinophilic Syndrome:

(show all 14)
# Title Authors PMID Year
1
A man with abdominal pain and eosinophilia : tissue is the issue. 61
31950810 2019
2
Serum cytokine and chemokine levels in patients with eosinophilic granulomatosis with polyangiitis, hypereosinophilic syndrome, or eosinophilic asthma. 61
30652675 2019
3
Endomyocardial fibrosis complicating primary hypereosinophilic syndrome. 61
30006894 2018
4
Purtscher-like retinopathy and primary hypereosinophilic syndrome association. 61
25389731 2012
5
Purtscher-like retinopathy associated with primary hypereosinophilic syndrome. 61
25391073 2009
6
Episcleris, arthrofasciitis and hypereosinophilia: primary hypereosinophilic syndrome or atypical Wegener's granulomatosis? 61
17589852 2007
7
The efficacy of imatinib mesylate in patients with FIP1L1-PDGFRalpha-positive hypereosinophilic syndrome. Results of a multicenter prospective study. 61
17666373 2007
8
Apoptosis induction by retinoids in eosinophilic leukemia cells: implication of retinoic acid receptor-alpha signaling in all-trans-retinoic acid hypersensitivity. 61
16778211 2006
9
[Primary hypereosinophilic syndrome]. 61
16760844 2006
10
Recurrent optic neuritis as the presenting manifestation of primary hypereosinophilic syndrome: a report of two cases. 61
15937435 2005
11
Pathologic quiz case: a young woman with eosinophilia and heart failure. Primary hypereosinophilic syndrome with loeffler endocarditis. 61
15628926 2005
12
The role of eosinophils in the pathobiology of Hodgkin's disease. 61
9209649 1997
13
Progesterone-responsive urticaria and eosinophilia. 61
2778236 1989
14
[Idiopathic or primary hypereosinophilic syndrome. Description of 6 cases and review of the literature]. 61
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
12.65 PDGFRB PDGFRA FGFR1
2
Show member pathways
12.61 PDGFRB PDGFRA FGFR1
3
Show member pathways
12.55 PDGFRB PDGFRA FGFR1
4
Show member pathways
12.55 PDGFRB PDGFRA FGFR1
5 12.51 PDGFRB PDGFRA FGFR1
6 12.43 PDGFRB PDGFRA FGFR1
7
Show member pathways
12.4 PDGFRB PDGFRA FGFR1
8
Show member pathways
12.38 PDGFRB PDGFRA FGFR1
9
Show member pathways
12.32 PDGFRB PDGFRA FGFR1
10 12.28 PDGFRB PDGFRA FGFR1
11
Show member pathways
12.1 PDGFRB PDGFRA FGFR1
12
Show member pathways
12.06 PDGFRB PDGFRA FGFR1
13
Show member pathways
12.03 PDGFRB PDGFRA FGFR1
14
Show member pathways
11.91 PDGFRB PDGFRA FGFR1
15
Show member pathways
11.87 PDGFRB PDGFRA FGFR1
16 11.69 PDGFRB PDGFRA
17 11.67 PDGFRB PDGFRA FGFR1
18 11.58 PDGFRB PDGFRA
19
Show member pathways
11.55 PDGFRB FGFR1
20 11.51 PDGFRA FGFR1
21 11.38 PDGFRB PDGFRA FGFR1
22 11.36 PDGFRB PDGFRA FGFR1
23
Show member pathways
11.27 PDGFRB PDGFRA
24 11.18 PDGFRB PDGFRA FGFR1
25
Show member pathways
11.01 PDGFRB PDGFRA
26 10.79 PDGFRB PDGFRA FGFR1
27 10.77 PDGFRB PDGFRA
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 9.79 PDGFRB PDGFRA FGFR1
4 MAPK cascade GO:0000165 9.74 PDGFRB PDGFRA FGFR1
5 cell migration GO:0016477 9.73 PDGFRB PDGFRA FGFR1
6 in utero embryonic development GO:0001701 9.71 PDGFRB PDGFRA FGFR1
7 positive regulation of protein kinase B signaling GO:0051897 9.69 PDGFRB PDGFRA FGFR1
8 protein autophosphorylation GO:0046777 9.67 PDGFRB PDGFRA FGFR1
9 peptidyl-tyrosine phosphorylation GO:0018108 9.65 PDGFRB PDGFRA FGFR1
10 lung development GO:0030324 9.63 PDGFRA FGFR1
11 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.63 PDGFRB PDGFRA FGFR1
12 wound healing GO:0042060 9.62 PDGFRB PDGFRA
13 cell chemotaxis GO:0060326 9.62 PDGFRB PDGFRA
14 hematopoietic progenitor cell differentiation GO:0002244 9.61 PDGFRB PDGFRA
15 positive regulation of MAP kinase activity GO:0043406 9.6 PDGFRB FGFR1
16 positive regulation of fibroblast proliferation GO:0048146 9.59 PDGFRB PDGFRA
17 platelet-derived growth factor receptor signaling pathway GO:0048008 9.58 PDGFRB PDGFRA
18 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.58 PDGFRB PDGFRA
19 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.58 PDGFRB PDGFRA FGFR1
20 adrenal gland development GO:0030325 9.55 PDGFRB PDGFRA
21 positive regulation of kinase activity GO:0033674 9.54 PDGFRB PDGFRA FGFR1
22 cardiac myofibril assembly GO:0055003 9.52 PDGFRB PDGFRA
23 retina vasculature development in camera-type eye GO:0061298 9.43 PDGFRB PDGFRA
24 phosphatidylinositol-mediated signaling GO:0048015 9.33 PDGFRB PDGFRA FGFR1
25 metanephric glomerular capillary formation GO:0072277 9.32 PDGFRB PDGFRA
26 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.26 PDGFRB PDGFRA
27 skeletal system morphogenesis GO:0048705 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 growth factor binding GO:0019838 9.37 PDGFRB PDGFRA
4 protein tyrosine kinase activity GO:0004713 9.33 PDGFRB PDGFRA FGFR1
5 platelet-derived growth factor receptor binding GO:0005161 9.32 PDGFRB PDGFRA
6 platelet-derived growth factor binding GO:0048407 9.26 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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