MCID: PRM149
MIFTS: 35

Primary Hypereosinophilic Syndrome

Categories: Blood diseases, Rare diseases, Immune 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:

Orphanet 59 ORPHA314950
ICD10 via Orphanet 34 D47.5

Summaries for Primary Hypereosinophilic Syndrome

MalaCards based summary : Primary Hypereosinophilic Syndrome, also known as neoplastic hypereosinophilic syndrome, is related to loeffler endocarditis and hypereosinophilic syndrome. An important gene associated with Primary Hypereosinophilic Syndrome is PDGFRB (Platelet Derived Growth Factor Receptor Beta), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Actin Nucleation by ARP-WASP Complex. The drugs Imatinib Mesylate and Protein Kinase Inhibitors 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 39)
# Related Disease Score Top Affiliating Genes
1 loeffler endocarditis 28.6 ETV6 FIP1L1 PDGFRA
2 hypereosinophilic syndrome 27.8 FGFR1 FIP1L1 PDGFRA PDGFRB
3 myeloproliferative disorder, chronic, with eosinophilia 10.2 ETV6 PDGFRB
4 myofibroma 10.2 ETV6 PDGFRB
5 desmoid tumor 10.2 PDGFRA PDGFRB
6 heart sarcoma 10.2 PDGFRA PDGFRB
7 spinal chordoma 10.1 PDGFRA PDGFRB
8 fibrosarcoma of bone 10.1 PDGFRA PDGFRB
9 mast cell disease 10.0 PDGFRA PDGFRB
10 pdgfra-associated chronic eosinophilic leukemia 10.0 FIP1L1 PDGFRA
11 chronic myelomonocytic leukemia 10.0 ETV6 PDGFRB
12 endomyocardial fibrosis 10.0 FIP1L1 PDGFRA
13 sm-ahnmd 10.0 FIP1L1 PDGFRA
14 dermatofibrosarcoma protuberans 10.0 PDGFRA PDGFRB
15 dysentery 9.9
16 leiomyosarcoma 9.9 PDGFRA PDGFRB
17 leukemia, acute lymphoblastic 3 9.8 ETV6 PDGFRA
18 budd-chiari syndrome 9.8 FIP1L1 PDGFRA
19 8p11 myeloproliferative syndrome 9.8 FGFR1 PDGFRB
20 breast secretory carcinoma 9.7 ETV6 FGFR1
21 atypical chronic myeloid leukemia 9.7 FGFR1 PDGFRA
22 endocarditis 9.7
23 optic neuritis 9.7
24 neuritis 9.7
25 hypereosinophilic syndrome, idiopathic 9.5 FIP1L1 PDGFRA PDGFRB
26 corneal dystrophy, subepithelial mucinous 9.5 FIP1L1 PDGFRA PDGFRB
27 leukocyte disease 9.5 FIP1L1 PDGFRA PDGFRB
28 polycythemia vera 9.4 PDGFRA PDGFRB
29 pilocytic astrocytoma 9.3 FGFR1 PDGFRB
30 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 9.3 FGFR1 PDGFRA PDGFRB
31 hematologic cancer 9.2 ETV6 FGFR1 PDGFRB
32 glioma 9.1 FGFR1 PDGFRA PDGFRB
33 glioblastoma 9.1 FGFR1 PDGFRA PDGFRB
34 ewing sarcoma 8.8 FGFR1 PDGFRA PDGFRB
35 bone marrow cancer 8.6 ETV6 FGFR1 PDGFRA PDGFRB
36 leukemia, chronic myeloid 8.6 ETV6 FGFR1 PDGFRA PDGFRB
37 chronic eosinophilic leukemia 8.6 FGFR1 FIP1L1 PDGFRA PDGFRB
38 systemic mastocytosis 8.6 FGFR1 FIP1L1 PDGFRA PDGFRB
39 myeloproliferative neoplasm 8.5 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:

26 (show all 31)
# 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 9.72 FGFR1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.72 ETV6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.72 FGFR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.72 FGFR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.72 PDGFRA
13 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.72 ETV6
14 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.72 PDGFRA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.72 ETV6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.72 ETV6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.72 FGFR1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.72 ETV6
19 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.72 FGFR1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.72 ETV6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.72 ETV6
22 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.72 PDGFRA
23 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.72 PDGFRA
24 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.72 FGFR1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.72 FGFR1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.72 PDGFRA
27 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.72 FGFR1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.72 ETV6
29 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.72 FGFR1 PDGFRA ETV6
30 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.72 FGFR1
31 Increased colony dispersion (increased number of colonies and decreased number of cells per colony) GR00212-A 8.96 PDGFRA FGFR1

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 PDGFRB ETV6 FGFR1 PDGFRA
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 Imatinib Mesylate Phase 2 220127-57-1 123596
2 Protein Kinase Inhibitors Phase 2

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:

41
Heart

Publications for Primary Hypereosinophilic Syndrome

Articles related to Primary Hypereosinophilic Syndrome:

# Title Authors Year
1
Purtscher-like retinopathy and primary hypereosinophilic syndrome association. ( 25389731 )
2012
2
Purtscher-like retinopathy associated with primary hypereosinophilic syndrome. ( 25391073 )
2009
3
Episcleris, arthrofasciitis and hypereosinophilia: primary hypereosinophilic syndrome or atypical Wegener's granulomatosis? ( 17589852 )
2007
4
Recurrent optic neuritis as the presenting manifestation of primary hypereosinophilic syndrome: a report of two cases. ( 15937435 )
2005
5
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 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 FGFR1 PDGFRA PDGFRB
2
Show member pathways
12.58 FGFR1 PDGFRA PDGFRB
3
Show member pathways
12.53 FGFR1 PDGFRA PDGFRB
4
Show member pathways
12.52 FGFR1 PDGFRA PDGFRB
5 12.48 FGFR1 PDGFRA PDGFRB
6
Show member pathways
12.41 FGFR1 PDGFRA PDGFRB
7 12.4 FGFR1 PDGFRA PDGFRB
8
Show member pathways
12.35 FGFR1 PDGFRA PDGFRB
9
Show member pathways
12.34 FGFR1 PDGFRA PDGFRB
10 12.24 FGFR1 PDGFRA PDGFRB
11
Show member pathways
12.13 FGFR1 PDGFRA PDGFRB
12
Show member pathways
12.07 FGFR1 PDGFRA PDGFRB
13 11.76 FGFR1 PDGFRA PDGFRB
14 11.71 FGFR1 PDGFRA PDGFRB
15 11.67 PDGFRA PDGFRB
16
Show member pathways
11.62 FGFR1 PDGFRA PDGFRB
17 11.56 PDGFRA PDGFRB
18
Show member pathways
11.52 FGFR1 PDGFRB
19 11.49 FGFR1 PDGFRA
20 11.45 FGFR1 PDGFRA PDGFRB
21
Show member pathways
11.34 PDGFRA PDGFRB
22 11.14 FGFR1 PDGFRA PDGFRB
23 10.82 PDGFRA PDGFRB
24 10.79 FGFR1 PDGFRA PDGFRB
25 10.55 PDGFRA PDGFRB
26 10.42 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 31)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.88 ETV6 FGFR1 PDGFRA PDGFRB
2 phosphorylation GO:0016310 9.83 FGFR1 PDGFRA PDGFRB
3 protein phosphorylation GO:0006468 9.82 FGFR1 PDGFRA PDGFRB
4 negative regulation of apoptotic process GO:0043066 9.81 FGFR1 PDGFRA PDGFRB
5 positive regulation of cell proliferation GO:0008284 9.8 FGFR1 PDGFRA PDGFRB
6 MAPK cascade GO:0000165 9.75 FGFR1 PDGFRA PDGFRB
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.74 FGFR1 PDGFRA PDGFRB
8 cell migration GO:0016477 9.73 FGFR1 PDGFRA PDGFRB
9 protein autophosphorylation GO:0046777 9.71 FGFR1 PDGFRA PDGFRB
10 peptidyl-tyrosine phosphorylation GO:0018108 9.7 FGFR1 PDGFRA PDGFRB
11 positive regulation of protein kinase B signaling GO:0051897 9.69 FGFR1 PDGFRA PDGFRB
12 positive regulation of MAPK cascade GO:0043410 9.67 FGFR1 PDGFRA PDGFRB
13 negative regulation of signal transduction GO:0009968 9.65 FGFR1 PDGFRA PDGFRB
14 lung development GO:0030324 9.64 FGFR1 PDGFRA
15 wound healing GO:0042060 9.64 PDGFRA PDGFRB
16 cell chemotaxis GO:0060326 9.62 PDGFRA PDGFRB
17 positive regulation of MAP kinase activity GO:0043406 9.62 FGFR1 PDGFRB
18 positive regulation of fibroblast proliferation GO:0048146 9.61 PDGFRA PDGFRB
19 skeletal system morphogenesis GO:0048705 9.61 FGFR1 PDGFRA
20 platelet-derived growth factor receptor signaling pathway GO:0048008 9.6 PDGFRA PDGFRB
21 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.59 PDGFRA PDGFRB
22 phosphatidylinositol phosphorylation GO:0046854 9.58 FGFR1 PDGFRA PDGFRB
23 cardiac myofibril assembly GO:0055003 9.55 PDGFRA PDGFRB
24 positive regulation of kinase activity GO:0033674 9.54 FGFR1 PDGFRA PDGFRB
25 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.5 FGFR1 PDGFRA PDGFRB
26 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 9.46 PDGFRA PDGFRB
27 retina vasculature development in camera-type eye GO:0061298 9.43 PDGFRA PDGFRB
28 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.26 PDGFRA PDGFRB
29 metanephric glomerular capillary formation GO:0072277 9.16 PDGFRA PDGFRB
30 phosphatidylinositol-mediated signaling GO:0048015 9.13 FGFR1 PDGFRA PDGFRB
31 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:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.71 FGFR1 PDGFRA PDGFRB
2 protein kinase activity GO:0004672 9.7 FGFR1 PDGFRA PDGFRB
3 nucleotide binding GO:0000166 9.69 FGFR1 PDGFRA PDGFRB
4 transmembrane signaling receptor activity GO:0004888 9.65 FGFR1 PDGFRA PDGFRB
5 protein tyrosine kinase activity GO:0004713 9.61 FGFR1 PDGFRA PDGFRB
6 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.54 FGFR1 PDGFRA PDGFRB
7 growth factor binding GO:0019838 9.49 PDGFRA PDGFRB
8 platelet-derived growth factor receptor binding GO:0005161 9.46 PDGFRA PDGFRB
9 MAP kinase kinase kinase activity GO:0004709 9.43 FGFR1 PDGFRA PDGFRB
10 platelet-derived growth factor binding GO:0048407 9.4 PDGFRA PDGFRB
11 mitogen-activated protein kinase kinase binding GO:0031434 9.33 FGFR1 PDGFRA PDGFRB
12 vascular endothelial growth factor binding GO:0038085 9.32 PDGFRA PDGFRB
13 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 FGFR1 PDGFRA PDGFRB
14 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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