Primary Hypereosinophilic Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PRM149 MIFTS: 37	Primary Hypereosinophilic Syndrome Categories: Blood diseases, Immune diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs Expand all tables

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Neoplasms

Neoplasms of uncertain or unknown behaviour

Other neoplasms of uncertain or unknown behaviour of lymphoid, haematopoietic and related tissue

Chronic eosinophilic leukaemia [hypereosinophilic syndrome]

Orphanet: ⁶⁰

Rare haematological diseases

External Ids:

ICD10 via Orphanet ³⁵ D47.5

Orphanet ⁶⁰ ORPHA314950

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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 myeloid, bone and bone marrow, and related phenotypes are Decreased viability and Decreased viability

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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:

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Symptoms & Phenotypes for Primary Hypereosinophilic Syndrome

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

²⁷ (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	ETV6 FGFR1 PDGFRA
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	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

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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

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Genetic Tests for Primary Hypereosinophilic Syndrome

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Anatomical Context for Primary Hypereosinophilic Syndrome

MalaCards organs/tissues related to Primary Hypereosinophilic Syndrome:

⁴²

Myeloid, Bone, Bone Marrow

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Publications for Primary Hypereosinophilic Syndrome

Articles related to Primary Hypereosinophilic Syndrome:

#	Title	Authors	Year
1	Endomyocardial fibrosis complicating primary hypereosinophilic syndrome. ( 30006894 )	Doyen D...Dellamonica J	2018
2	Purtscher-like retinopathy and primary hypereosinophilic syndrome association. ( 25389731 )	Howard RC...Zumbro DS	2012
3	Purtscher-like retinopathy associated with primary hypereosinophilic syndrome. ( 25391073 )	Gupta OP...Maguire JI	2009
4	Episcleris, arthrofasciitis and hypereosinophilia: primary hypereosinophilic syndrome or atypical Wegener's granulomatosis? ( 17589852 )	do Prado AD...Staub HL	2007
5	Pathologic quiz case: a young woman with eosinophilia and heart failure. Primary hypereosinophilic syndrome with loeffler endocarditis. ( 15628926 )	Cunningham K...Veinot JP	2005
6	Recurrent optic neuritis as the presenting manifestation of primary hypereosinophilic syndrome: a report of two cases. ( 15937435 )	Lincoff NS...Schlesinger D	2005

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Genes for Primary Hypereosinophilic Syndrome

Genes related to Primary Hypereosinophilic Syndrome (5 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ETV6	ETS Variant 6	Protein Coding	350	Gene fusion ⁶⁰
2	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	350	Gene fusion ⁶⁰
3	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	350	Gene fusion ⁶⁰
4	FIP1L1	Factor Interacting With PAPOLA And CPSF1	Protein Coding	350	Gene fusion ⁶⁰
5	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	350	Gene fusion ⁶⁰

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Variations for Primary Hypereosinophilic Syndrome

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Expression for Primary Hypereosinophilic Syndrome

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

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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	Actin Nucleation by ARP-WASP Complex ⁶⁵ Show member pathways Actin Nucleation and Branching ⁶⁵ CDC42 Pathway ⁶⁵ RhoA Pathway ⁶⁵	12.66	FGFR1 PDGFRA PDGFRB
2	PI3K-Akt signaling pathway ³⁸ Show member pathways Human papillomavirus infection ³⁸	12.65	FGFR1 PDGFRA PDGFRB
3	NFAT and Cardiac Hypertrophy ⁶⁵ Show member pathways IGF1R Signaling ⁶⁵ Signaling Involved in Cardiac Hypertrophy ⁶⁵	12.54	FGFR1 PDGFRA PDGFRB
4	Endometrial cancer ³⁸ Show member pathways Acute myeloid leukemia ³⁸ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁷ Chronic myeloid leukemia ³⁸ Colorectal cancer ³⁸ Pancreatic cancer ³⁸ Prostate cancer ³⁸ Signal transduction PTEN pathway ²³ Thyroid cancer ³⁸	12.54	FGFR1 PDGFRA PDGFRB
5	Pathways in cancer ³⁸	12.5	FGFR1 PDGFRA PDGFRB
6	MAPK signaling pathway ¹ ³⁸	12.42	FGFR1 PDGFRA PDGFRB
7	Ras signaling pathway ³⁸ Show member pathways Rap1 signaling pathway ³⁸	12.38	FGFR1 PDGFRA PDGFRB
8	Downstream signaling events of B Cell Receptor (BCR) ⁶⁷ Show member pathways Activation of RAS in B cells ⁶⁷ Signaling by the B Cell Receptor (BCR) ⁶⁷	12.37	FGFR1 PDGFRA PDGFRB
9	Glioma ³⁸ Show member pathways Endocrine resistance ³⁸ Melanoma ³⁸ Non-small cell lung cancer ³⁸ Signaling Pathways in Glioblastoma ¹	12.36	FGFR1 PDGFRA PDGFRB
10	Regulation of actin cytoskeleton ³⁸ ¹	12.29	FGFR1 PDGFRA PDGFRB
11	mTOR signaling pathway (KEGG) ³⁸ Show member pathways mTOR Signaling Pathway ⁶⁶	12.15	FGFR1 PDGFRA PDGFRB
12	G-protein signaling RAC1 in cellular process ²³ Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²³ RAC1 signaling pathway ¹	12.06	FGFR1 PDGFRA PDGFRB
13	Apoptosis Pathway ⁷³ Show member pathways Akt Pathway ⁷³ NF-kappaB Pathway ⁷³	12.05	FGFR1 PDGFRA PDGFRB
14	Immune response IFN alpha/beta signaling pathway ²³ Show member pathways Cytokine Network ⁶⁵ Interferon alpha/beta signaling ⁶⁷ Regulation of IFNA signaling ⁶⁷	11.92	FGFR1 PDGFRA PDGFRB
15	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁶ Show member pathways Akt Signaling Pathway ⁶⁶	11.84	FGFR1 PDGFRA PDGFRB
16	AKT Signaling Pathway ⁶⁸	11.74	FGFR1 PDGFRA PDGFRB
17	Glioblastoma Multiforme ⁶⁵	11.68	PDGFRA PDGFRB
18	Tyrosine Kinases / Adaptors ⁴	11.67	FGFR1 PDGFRA PDGFRB
19	Gap junction ³⁸	11.58	PDGFRA PDGFRB
20	VEGF Pathway (Tocris) ⁶² Show member pathways VEGF Pathway ⁷³	11.52	FGFR1 PDGFRB
21	Neural Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁶	11.51	FGFR1 PDGFRA
22	G-protein signaling_RhoA regulation pathway ²³	11.39	FGFR1 PDGFRA PDGFRB
23	Angiogenesis (CST) ⁴	11.38	FGFR1 PDGFRA PDGFRB
24	Central carbon metabolism in cancer ³⁸	11.14	FGFR1 PDGFRA PDGFRB
25	G-protein signaling_Cross-talk between Ras-family GTPases ²³	11.05	FGFR1 PDGFRA PDGFRB
26	Cytoskeleton remodeling_Role of PDGFs in cell migration ²³	10.79	PDGFRA PDGFRB
27	Alzheimers Disease Pathway ⁶⁵	10.79	FGFR1 PDGFRA PDGFRB
28	G-protein signaling_Rap2B regulation pathway ²³	10.7	FGFR1 PDGFRA PDGFRB
29	Osteoblast Signaling ¹	10.51	PDGFRA PDGFRB
30	Vemurafenib Pathway, Pharmacodynamics ⁶²	10.43	FGFR1 PDGFRA PDGFRB

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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 28)

#	Name	GO ID	Score	Top Affiliating Genes
1	phosphorylation	GO:0016310	9.81	FGFR1 PDGFRA PDGFRB
2	protein phosphorylation	GO:0006468	9.81	FGFR1 PDGFRA PDGFRB
3	positive regulation of cell proliferation	GO:0008284	9.77	FGFR1 PDGFRA PDGFRB
4	MAPK cascade	GO:0000165	9.7	FGFR1 PDGFRA PDGFRB
5	cell migration	GO:0016477	9.67	FGFR1 PDGFRA PDGFRB
6	peptidyl-tyrosine phosphorylation	GO:0018108	9.65	FGFR1 PDGFRA PDGFRB
7	transmembrane receptor protein tyrosine kinase signaling pathway	GO:0007169	9.63	PDGFRA PDGFRB
8	protein autophosphorylation	GO:0046777	9.63	FGFR1 PDGFRA PDGFRB
9	wound healing	GO:0042060	9.62	PDGFRA PDGFRB
10	lung development	GO:0030324	9.62	FGFR1 PDGFRA
11	cell chemotaxis	GO:0060326	9.61	PDGFRA PDGFRB
12	positive regulation of protein kinase B signaling	GO:0051897	9.61	FGFR1 PDGFRA PDGFRB
13	positive regulation of MAP kinase activity	GO:0043406	9.59	FGFR1 PDGFRB
14	positive regulation of fibroblast proliferation	GO:0048146	9.58	PDGFRA PDGFRB
15	skeletal system morphogenesis	GO:0048705	9.58	FGFR1 PDGFRA
16	positive regulation of MAPK cascade	GO:0043410	9.58	FGFR1 PDGFRA PDGFRB
17	platelet-derived growth factor receptor signaling pathway	GO:0048008	9.57	PDGFRA PDGFRB
18	positive regulation of phosphatidylinositol 3-kinase activity	GO:0043552	9.56	PDGFRA PDGFRB
19	positive regulation of ERK1 and ERK2 cascade	GO:0070374	9.54	PDGFRA PDGFRB
20	cardiac myofibril assembly	GO:0055003	9.51	PDGFRA PDGFRB
21	positive regulation of phosphatidylinositol 3-kinase signaling	GO:0014068	9.5	FGFR1 PDGFRA PDGFRB
22	retina vasculature development in camera-type eye	GO:0061298	9.37	PDGFRA PDGFRB
23	negative regulation of apoptotic process	GO:0043066	9.3	PDGFRB
24	metanephric glomerular capillary formation	GO:0072277	9.26	PDGFRA PDGFRB
25	cell differentiation	GO:0030154	9.25	ETV6
26	positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway	GO:0038091	9.16	PDGFRA PDGFRB
27	phosphatidylinositol-mediated signaling	GO:0048015	9.13	FGFR1 PDGFRA PDGFRB
28	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	9.61	FGFR1 PDGFRA PDGFRB
2	protein kinase activity	GO:0004672	9.58	FGFR1 PDGFRA PDGFRB
3	nucleotide binding	GO:0000166	9.54	FGFR1 PDGFRA PDGFRB
4	protein tyrosine kinase activity	GO:0004713	9.43	FGFR1 PDGFRA PDGFRB
5	platelet-derived growth factor receptor binding	GO:0005161	9.32	PDGFRA PDGFRB
6	platelet-derived growth factor binding	GO:0048407	9.16	PDGFRA PDGFRB
7	vascular endothelial growth factor binding	GO:0038085	8.96	PDGFRA PDGFRB
8	transmembrane receptor protein tyrosine kinase activity	GO:0004714	8.8	FGFR1 PDGFRA PDGFRB

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Sources for Primary Hypereosinophilic Syndrome

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