HES-M
MCID: PRM149
MIFTS: 36

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 60
Neoplastic Hypereosinophilic Syndrome 60
Clonal Hypereosinophilic Syndrome 60
Primary Hes 60
Hes-M 60
Hes-N 60

Characteristics:

Orphanet epidemiological data:

60
primary hypereosinophilic syndrome
Age of onset: All ages;

Classifications:



External Ids:

ICD10 via Orphanet 35 D47.5
Orphanet 60 ORPHA314950

Summaries for Primary Hypereosinophilic Syndrome

MalaCards based summary : Primary Hypereosinophilic Syndrome, also known as neoplastic hypereosinophilic syndrome, is related to endomyocardial fibrosis and hypereosinophilic syndrome. An important gene associated with Primary Hypereosinophilic Syndrome is ETV6 (ETS Variant 6), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and PI3K-Akt signaling pathway. The drugs Protein Kinase Inhibitors and Imatinib Mesylate have been mentioned in the context of this disorder. Affiliated tissues include 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 40)
# Related Disease Score Top Affiliating Genes
1 endomyocardial fibrosis 29.5 FIP1L1 PDGFRA
2 hypereosinophilic syndrome 29.2 FGFR1 FIP1L1 PDGFRA PDGFRB
3 loeffler endocarditis 29.1 ETV6 FIP1L1 PDGFRA
4 myeloproliferative disorder, chronic, with eosinophilia 10.1 ETV6 PDGFRB
5 myofibroma 10.1 ETV6 PDGFRB
6 breast secretory carcinoma 10.1 ETV6 FGFR1
7 8p11 myeloproliferative syndrome 10.0 FGFR1 PDGFRB
8 desmoid tumor 10.0 PDGFRA PDGFRB
9 heart sarcoma 10.0 PDGFRA PDGFRB
10 atypical chronic myeloid leukemia 10.0 PDGFRA PDGFRB
11 spinal chordoma 9.9 PDGFRA PDGFRB
12 dysentery 9.9
13 chordoma 9.9 PDGFRA PDGFRB
14 fibrosarcoma of bone 9.9 PDGFRA PDGFRB
15 leukemia, acute lymphoblastic 3 9.9 ETV6 PDGFRA
16 retinoblastoma 9.9
17 dermatofibrosarcoma protuberans 9.9 PDGFRA PDGFRB
18 chronic myelomonocytic leukemia 9.8 ETV6 PDGFRB
19 leiomyosarcoma 9.8 PDGFRA PDGFRB
20 pdgfra-associated chronic eosinophilic leukemia 9.8 FIP1L1 PDGFRA
21 endocarditis 9.8
22 optic neuritis 9.8
23 neuritis 9.8
24 rere-related disorders 9.8
25 sm-ahnmd 9.8 FIP1L1 PDGFRA
26 hematologic cancer 9.8 ETV6 FGFR1 PDGFRB
27 budd-chiari syndrome 9.7 FIP1L1 PDGFRA
28 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 9.7 FGFR1 PDGFRA PDGFRB
29 glioma 9.6 FGFR1 PDGFRA PDGFRB
30 polycythemia vera 9.6 PDGFRA PDGFRB
31 glioblastoma 9.6 FGFR1 PDGFRA PDGFRB
32 mastocytosis 9.5 FIP1L1 PDGFRA PDGFRB
33 hypereosinophilic syndrome, idiopathic 9.5 FIP1L1 PDGFRA PDGFRB
34 corneal dystrophy, subepithelial mucinous 9.5 FIP1L1 PDGFRA PDGFRB
35 ewing sarcoma 9.5 FGFR1 PDGFRA PDGFRB
36 bone marrow cancer 9.4 ETV6 FGFR1 PDGFRA PDGFRB
37 leukemia, chronic myeloid 9.4 ETV6 FGFR1 PDGFRA PDGFRB
38 chronic eosinophilic leukemia 9.2 FGFR1 FIP1L1 PDGFRA PDGFRB
39 systemic mastocytosis 9.2 FGFR1 FIP1L1 PDGFRA PDGFRB
40 myeloproliferative neoplasm 9.2 FGFR1 FIP1L1 PDGFRA PDGFRB

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:

27 (show all 32)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.97 PDGFRA
2 Decreased viability GR00221-A-1 9.97 FGFR1 PDGFRA PDGFRB
3 Decreased viability GR00221-A-2 9.97 FGFR1
4 Decreased viability GR00221-A-3 9.97 PDGFRA PDGFRB
5 Decreased viability GR00221-A-4 9.97 PDGFRA PDGFRB
6 Decreased viability GR00342-S-1 9.97 PDGFRB
7 Decreased viability GR00402-S-2 9.97 FGFR1 PDGFRA PDGFRB
8 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.74 FGFR1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.74 ETV6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.74 FGFR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.74 FGFR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.74 PDGFRA
13 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.74 ETV6
14 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.74 PDGFRA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.74 ETV6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.74 ETV6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.74 FGFR1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.74 ETV6
19 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.74 FGFR1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.74 ETV6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.74 ETV6
22 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.74 PDGFRA
23 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.74 PDGFRA
24 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.74 FGFR1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.74 FGFR1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.74 PDGFRA
27 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.74 FGFR1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.74 ETV6
29 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.74 ETV6 FGFR1 PDGFRA
30 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.74 PDGFRA
31 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.74 FGFR1
32 Increased colony dispersion (increased number of colonies and decreased number of cells per colony) GR00212-A 8.96 FGFR1 PDGFRA

MGI Mouse Phenotypes related to Primary Hypereosinophilic Syndrome:

47
# 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Protein Kinase Inhibitors Phase 2
2 Imatinib Mesylate Phase 2 220127-57-1 123596

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Imatinib Mesylate in Hypereosinophilic Syndromes Completed NCT00787384 Phase 2 Imatinib

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:

42
Heart

Publications for Primary Hypereosinophilic Syndrome

Articles related to Primary Hypereosinophilic Syndrome:

# Title Authors Year
1
Endomyocardial fibrosis complicating primary hypereosinophilic syndrome. ( 30006894 )
2018
2
Purtscher-like retinopathy and primary hypereosinophilic syndrome association. ( 25389731 )
2012
3
Purtscher-like retinopathy associated with primary hypereosinophilic syndrome. ( 25391073 )
2009
4
Episcleris, arthrofasciitis and hypereosinophilia: primary hypereosinophilic syndrome or atypical Wegener's granulomatosis? ( 17589852 )
2007
5
Recurrent optic neuritis as the presenting manifestation of primary hypereosinophilic syndrome: a report of two cases. ( 15937435 )
2005
6
Pathologic quiz case: a young woman with eosinophilia and heart failure. Primary hypereosinophilic syndrome with loeffler endocarditis. ( 15628926 )
2005

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 FGFR1 PDGFRA PDGFRB
2
Show member pathways
12.65 FGFR1 PDGFRA PDGFRB
3
Show member pathways
12.55 FGFR1 PDGFRA PDGFRB
4
Show member pathways
12.55 FGFR1 PDGFRA PDGFRB
5 12.5 FGFR1 PDGFRA PDGFRB
6 12.42 FGFR1 PDGFRA PDGFRB
7
Show member pathways
12.38 FGFR1 PDGFRA PDGFRB
8
Show member pathways
12.37 FGFR1 PDGFRA PDGFRB
9
Show member pathways
12.36 FGFR1 PDGFRA PDGFRB
10 12.29 FGFR1 PDGFRA PDGFRB
11
Show member pathways
12.15 FGFR1 PDGFRA PDGFRB
12
Show member pathways
12.06 FGFR1 PDGFRA PDGFRB
13
Show member pathways
12.05 FGFR1 PDGFRA PDGFRB
14
Show member pathways
11.92 FGFR1 PDGFRA PDGFRB
15
Show member pathways
11.84 FGFR1 PDGFRA PDGFRB
16 11.74 FGFR1 PDGFRA PDGFRB
17 11.68 PDGFRA PDGFRB
18 11.67 FGFR1 PDGFRA PDGFRB
19
Show member pathways
11.53 FGFR1 PDGFRB
20 11.51 FGFR1 PDGFRA
21
Show member pathways
11.49 PDGFRA PDGFRB
22 11.39 FGFR1 PDGFRA PDGFRB
23 11.38 FGFR1 PDGFRA PDGFRB
24 11.14 FGFR1 PDGFRA PDGFRB
25 11.05 FGFR1 PDGFRA PDGFRB
26 10.79 PDGFRA PDGFRB
27 10.79 FGFR1 PDGFRA PDGFRB
28 10.7 FGFR1 PDGFRA PDGFRB
29 10.51 PDGFRA PDGFRB
30 10.43 FGFR1 PDGFRA PDGFRB

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 PDGFRA PDGFRB
2 receptor complex GO:0043235 8.8 FGFR1 PDGFRA PDGFRB

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.82 FGFR1 PDGFRA PDGFRB
2 protein phosphorylation GO:0006468 9.81 FGFR1 PDGFRA PDGFRB
3 positive regulation of cell proliferation GO:0008284 9.78 FGFR1 PDGFRA PDGFRB
4 MAPK cascade GO:0000165 9.71 FGFR1 PDGFRA PDGFRB
5 cell migration GO:0016477 9.69 FGFR1 PDGFRA PDGFRB
6 peptidyl-tyrosine phosphorylation GO:0018108 9.67 FGFR1 PDGFRA PDGFRB
7 protein autophosphorylation GO:0046777 9.65 FGFR1 PDGFRA PDGFRB
8 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.63 PDGFRA PDGFRB
9 wound healing GO:0042060 9.63 PDGFRA PDGFRB
10 positive regulation of protein kinase B signaling GO:0051897 9.63 FGFR1 PDGFRA PDGFRB
11 lung development GO:0030324 9.62 FGFR1 PDGFRA
12 cell chemotaxis GO:0060326 9.62 PDGFRA PDGFRB
13 positive regulation of MAPK cascade GO:0043410 9.61 FGFR1 PDGFRA PDGFRB
14 positive regulation of MAP kinase activity GO:0043406 9.6 FGFR1 PDGFRB
15 positive regulation of fibroblast proliferation GO:0048146 9.59 PDGFRA PDGFRB
16 skeletal system morphogenesis GO:0048705 9.58 FGFR1 PDGFRA
17 platelet-derived growth factor receptor signaling pathway GO:0048008 9.58 PDGFRA PDGFRB
18 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.57 PDGFRA PDGFRB
19 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.55 PDGFRA PDGFRB
20 phosphatidylinositol phosphorylation GO:0046854 9.54 FGFR1 PDGFRA PDGFRB
21 cardiac myofibril assembly GO:0055003 9.52 PDGFRA PDGFRB
22 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.5 FGFR1 PDGFRA PDGFRB
23 retina vasculature development in camera-type eye GO:0061298 9.4 PDGFRA PDGFRB
24 negative regulation of apoptotic process GO:0043066 9.31 PDGFRB
25 cell differentiation GO:0030154 9.26 ETV6
26 metanephric glomerular capillary formation GO:0072277 9.26 PDGFRA PDGFRB
27 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.16 PDGFRA PDGFRB
28 phosphatidylinositol-mediated signaling GO:0048015 9.13 FGFR1 PDGFRA PDGFRB
29 positive regulation of phospholipase C activity GO:0010863 8.8 FGFR1 PDGFRA PDGFRB

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 9.65 FGFR1 PDGFRA PDGFRB
2 protein kinase activity GO:0004672 9.63 FGFR1 PDGFRA PDGFRB
3 nucleotide binding GO:0000166 9.61 FGFR1 PDGFRA PDGFRB
4 protein tyrosine kinase activity GO:0004713 9.54 FGFR1 PDGFRA PDGFRB
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.43 FGFR1 PDGFRA PDGFRB
6 platelet-derived growth factor receptor binding GO:0005161 9.4 PDGFRA PDGFRB
7 platelet-derived growth factor binding GO:0048407 9.32 PDGFRA PDGFRB
8 vascular endothelial growth factor binding GO:0038085 9.16 PDGFRA PDGFRB
9 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 FGFR1 PDGFRA PDGFRB
10 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.8 FGFR1 PDGFRA PDGFRB

Sources for Primary Hypereosinophilic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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