HES
MCID: HYP810
MIFTS: 61

Hypereosinophilic Syndrome, Idiopathic (HES)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hypereosinophilic Syndrome, Idiopathic

MalaCards integrated aliases for Hypereosinophilic Syndrome, Idiopathic:

Name: Hypereosinophilic Syndrome, Idiopathic 57 39
Idiopathic Hypereosinophilic Syndrome 73 58 29 54 6 70
Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib 57 29 13 6
Hes 57

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
somatic mutation
isolated cases

Miscellaneous:
occurs at age 20-50 years
considered a myeloproliferative disorder
usually fatal
more common in men (9:1 male:female ratio)


HPO:

31
hypereosinophilic syndrome, idiopathic:
Inheritance somatic mutation sporadic


Classifications:

Orphanet: 58  
Rare haematological diseases


Summaries for Hypereosinophilic Syndrome, Idiopathic

MalaCards based summary : Hypereosinophilic Syndrome, Idiopathic, also known as idiopathic hypereosinophilic syndrome, is related to primary hypereosinophilic syndrome and hypereosinophilic syndrome, and has symptoms including myalgia and pruritus. An important gene associated with Hypereosinophilic Syndrome, Idiopathic is PDGFRA (Platelet Derived Growth Factor Receptor Alpha), and among its related pathways/superpathways are ERK Signaling and Activation of cAMP-Dependent PKA. The drugs Sargramostim and Cytarabine have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone marrow and bone, and related phenotypes are eosinophilia and fever

Wikipedia : 73 Hypereosinophilic syndrome is a disease characterized by a persistently elevated eosinophil count (≥... more...

More information from OMIM: 607685

Related Diseases for Hypereosinophilic Syndrome, Idiopathic

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

(show top 50) (show all 393)
# Related Disease Score Top Affiliating Genes
1 primary hypereosinophilic syndrome 31.8 PDGFRB PDGFRA FIP1L1
2 hypereosinophilic syndrome 30.6 PDGFRB PDGFRA KIT IL5 IL3 FIP1L1
3 polycythemia vera 30.5 PDGFRB PDGFRA KIT IL3 FIP1L1
4 eosinophilic gastroenteritis 30.4 IL5 IL3
5 endomyocardial fibrosis 30.3 PDGFRB PDGFRA IL5 FIP1L1
6 eosinophilic pneumonia 30.2 IL5 IL3
7 trichinosis 30.0 IL5 IL3
8 churg-strauss syndrome 29.8 IL5 IL3
9 myelodysplastic/myeloproliferative neoplasm 29.8 PDGFRB PDGFRA KIT
10 systemic mastocytosis 29.7 PDGFRB PDGFRA KIT FIP1L1
11 urticaria 29.6 KIT IL5 IL3
12 loeffler endocarditis 29.4 PDGFRA IL5 IL3 FIP1L1
13 mastocytosis 29.3 PDGFRB PDGFRA KIT IL3 FIP1L1
14 leukemia, chronic myeloid 29.2 WT1 PDGFRB PDGFRA KIT IL3
15 myelofibrosis 29.1 WT1 PDGFRB KIT IL3
16 myeloproliferative neoplasm 29.0 WT1 PDGFRB PDGFRA KIT IL3 FIP1L1
17 acute leukemia 28.8 WT1 KIT IL3
18 myelodysplastic syndrome 28.5 WT1 PDGFRB KIT IL3
19 chronic eosinophilic leukemia 28.4 WT1 PDGFRB PDGFRA KIT IL5 FIP1L1
20 leukemia, acute myeloid 28.3 WT1 PDGFRB PDGFRA KIT IL3 FIP1L1
21 ovarian cancer 27.8 WT1 TGFA PDGFRB PDGFRA KIT IL3
22 lymphocytic hypereosinophilic syndrome 11.2
23 secondary hypereosinophilic syndrome 11.1
24 helix syndrome 10.5
25 thrombosis 10.5
26 restrictive cardiomyopathy 10.4
27 peripheral nervous system disease 10.4
28 neuropathy 10.4
29 gastroenteritis 10.3
30 splenomegaly 10.3
31 endocarditis 10.3
32 myocarditis 10.3
33 encephalopathy 10.3
34 diarrhea 10.3
35 pericarditis 10.3
36 vasculitis 10.3
37 pdgfra-associated chronic eosinophilic leukemia 10.2 PDGFRA FIP1L1
38 respiratory failure 10.2
39 hemopericardium 10.2
40 cardiac tamponade 10.2
41 mitral valve insufficiency 10.2
42 pericardial effusion 10.2
43 cellulitis 10.2
44 wells syndrome 10.2
45 loeffler syndrome 10.2 IL5 FIP1L1
46 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 10.2 PDGFRB PDGFRA
47 eosinophilic gastritis 10.2 IL5 FIP1L1
48 toxocariasis 10.2 IL5 FIP1L1
49 myeloproliferative disorder, chronic, with eosinophilia 10.2 PDGFRB FIP1L1
50 eosinophilia-myalgia syndrome 10.2 IL5 FIP1L1

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



Diseases related to Hypereosinophilic Syndrome, Idiopathic

Symptoms & Phenotypes for Hypereosinophilic Syndrome, Idiopathic

Human phenotypes related to Hypereosinophilic Syndrome, Idiopathic:

58 31 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eosinophilia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001880
2 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
3 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
4 pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000980
5 myelodysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002863
6 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
7 abdominal distention 58 31 frequent (33%) Frequent (79-30%) HP:0003270
8 hypercoagulability 58 31 frequent (33%) Frequent (79-30%) HP:0100724
9 myocardial eosinophilic infiltration 58 31 frequent (33%) Frequent (79-30%) HP:0031323
10 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
11 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
12 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
13 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
14 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
15 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
16 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
17 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
18 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
19 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
20 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
21 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
22 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
23 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
24 pulmonary fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002206
25 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
26 supraventricular arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005115
27 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
28 transient ischemic attack 58 31 occasional (7.5%) Occasional (29-5%) HP:0002326
29 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
30 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
31 joint swelling 58 31 occasional (7.5%) Occasional (29-5%) HP:0001386
32 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
33 cough 58 31 occasional (7.5%) Occasional (29-5%) HP:0012735
34 asthma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002099
35 chest pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0100749
36 chronic diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002028
37 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
38 urticaria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001025
39 intracranial hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002170
40 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
41 pulmonary embolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002204
42 papule 58 31 occasional (7.5%) Occasional (29-5%) HP:0200034
43 cutis marmorata 58 31 occasional (7.5%) Occasional (29-5%) HP:0000965
44 pruritus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000989
45 erythroderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001019
46 encephalopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001298
47 pleural effusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0002202
48 sensory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0003474
49 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
50 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Spleen:
splenomegaly

Cardiovascular Vascular:
venous thrombosis

Skin Nails Hair Skin:
pruritus

Cardiovascular Heart:
restrictive cardiomyopathy
cardiac infiltration of eosinophils
endomyocardial fibrosis

Neurologic Peripheral Nervous System:
peripheral nervous system involvement

Immunology:
no concurrent parasitic infection
no concurrent allergies

Abdomen Liver:
hepatomegaly

Muscle Soft Tissue:
myalgia

Respiratory Lung:
pulmonary infiltrates

Neurologic Central Nervous System:
paraspinal masses
cauda equina syndrome

Hematology:
sustained eosinophilia (greater than 1,500/cubic mm) for greater than 6 months
total white blood cell count less than 25,000/cubic mm with 30-70% eosinophils
bone marrow biopsy shows increased eosinophils without myeloblasts

Clinical features from OMIM®:

607685 (Updated 20-May-2021)

UMLS symptoms related to Hypereosinophilic Syndrome, Idiopathic:


myalgia; pruritus

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 9.4 KIT
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.4 TGFA
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.4 TGFA
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.4 KIT
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.4 TGFA
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.4 TGFA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.4 KIT
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 9.4 WT1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-35 9.4 WT1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.4 KIT
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.4 TGFA
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.4 TGFA

MGI Mouse Phenotypes related to Hypereosinophilic Syndrome, Idiopathic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.55 IL5 KIT PDGFRA PDGFRB TGFA
2 muscle MP:0005369 9.35 KIT PDGFRA PDGFRB TGFA WT1
3 reproductive system MP:0005389 9.1 IL5 KIT PDGFRA PDGFRB TGFA WT1

Drugs & Therapeutics for Hypereosinophilic Syndrome, Idiopathic

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
2
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
3
Cladribine Approved, Investigational Phase 2 4291-63-8 20279
4
Lenograstim Approved, Investigational Phase 2 135968-09-1
5
Molgramostim Investigational Phase 2 99283-10-0
6 Anti-Infective Agents Phase 2
7 Adjuvants, Immunologic Phase 2
8 2-chloro-3'-deoxyadenosine Phase 2
9 Immunosuppressive Agents Phase 2
10 Immunologic Factors Phase 2
11 Antiviral Agents Phase 2
12 Antimetabolites Phase 2
13 Janus Kinase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open Label Pilot Phase II Study of STI571 in the Treatment of Patients With Idiopathic Hypereosinophilic Syndrome (HES) and Eosinophilic Leukemias Unknown status NCT00276926 Phase 2 STI571
2 Phase II Study: 2-Chlorodeoxyadenosine (2-CdA) and Cytarabine (Ara-C) in Idiopathic Hypereosinophilic Syndrome (HES) Completed NCT00483067 Phase 2 2-CdA;Ara-C;G-CSF (Granulocyte colony-stimulating factor)
3 Phase 2 Study of Ruxolitinib in Idiopathic Hypereosinophilic Syndrome and Primary Eosinophilic Disorders Not yet recruiting NCT03801434 Phase 2 Ruxolitinib
4 A Study to Determine the Safety and Efficacy of Imatinib Mesylate in Patients With Idiopathic Hypereosinophilic Syndrome Terminated NCT00171860 Phase 2 imatinib mesylate
5 Phase II Study of Gleevec (Imatinib Mesylate) in Patients With Idiopathic Hypereosinophilic Syndrome (HES) Withdrawn NCT00230334 Phase 2 Gleevec

Search NIH Clinical Center for Hypereosinophilic Syndrome, Idiopathic

Genetic Tests for Hypereosinophilic Syndrome, Idiopathic

Genetic tests related to Hypereosinophilic Syndrome, Idiopathic:

# Genetic test Affiliating Genes
1 Idiopathic Hypereosinophilic Syndrome 29 PDGFRA
2 Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib 29

Anatomical Context for Hypereosinophilic Syndrome, Idiopathic

MalaCards organs/tissues related to Hypereosinophilic Syndrome, Idiopathic:

40
Myeloid, Bone Marrow, Bone, Heart, Liver, Kidney, Skeletal Muscle

Publications for Hypereosinophilic Syndrome, Idiopathic

Articles related to Hypereosinophilic Syndrome, Idiopathic:

(show top 50) (show all 597)
# Title Authors PMID Year
1
A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. 57 6 61 54
12660384 2003
2
Discovery of a fusion kinase in EOL-1 cells and idiopathic hypereosinophilic syndrome. 57 61
12808148 2003
3
Elevated serum tryptase levels identify a subset of patients with a myeloproliferative variant of idiopathic hypereosinophilic syndrome associated with tissue fibrosis, poor prognosis, and imatinib responsiveness. 61 57
12676775 2003
4
Clonality of isolated eosinophils in the hypereosinophilic syndrome. 57 61
10029594 1999
5
The hypereosinophilic syndrome: analysis of fourteen cases with review of the literature. 57 61
1090795 1975
6
Use of an anti-interleukin-5 antibody in the hypereosinophilic syndrome with eosinophilic dermatitis. 57
14668459 2003
7
Treatment of hypereosinophilic syndrome with imatinib mesilate. 57
12047970 2002
8
Abnormal clones of T cells producing interleukin-5 in idiopathic eosinophilia. 57
10511609 1999
9
Clonal nature of hypereosinophilic syndrome. 57
8018930 1994
10
Brief report: clonal proliferation of type 2 helper T cells in a man with the hypereosinophilic syndrome. 57
8302319 1994
11
Design of chimeric histone deacetylase- and tyrosine kinase-inhibitors: a series of imatinib hybrides as potent inhibitors of wild-type and mutant BCR-ABL, PDGF-Rbeta, and histone deacetylases. 54 61
19301902 2009
12
T670X KIT mutations in gastrointestinal stromal tumors: making sense of missense. 61 54
19176456 2009
13
WT1 transcript amount discriminates secondary or reactive eosinophilia from idiopathic hypereosinophilic syndrome or chronic eosinophilic leukemia. 61 54
17508006 2007
14
Molecular analysis of PDGFRalpha/beta genes in core binding factor leukemia with eosinophilia. 61 54
16343267 2006
15
Molecular characterization of the idiopathic hypereosinophilic syndrome (HES) in 35 French patients with normal conventional cytogenetics. 54 61
15772698 2005
16
Differentiation of eosinophils from cord blood cell precursors: kinetics of Fc epsilon RI and Fc epsilon RII expression. 61 54
9130481 1997
17
Interleukin-5 mRNA levels in blood and bone marrow mononuclear cells from patients with the idiopathic hypereosinophilic syndrome. 54 61
7835952 1994
18
Elevated production of interleukin-4 and interleukin-5 by T cells in a child with idiopathic hypereosinophilic syndrome. 61 54
8006315 1994
19
Expression of the transforming growth factor-alpha gene by human eosinophils is regulated by interleukin-3, interleukin-5, and granulocyte-macrophage colony-stimulating factor. 61 54
8125134 1994
20
Production of transforming growth factor alpha by normal human blood eosinophils. 61 54
7692191 1993
21
The effects of recombinant granulocyte-macrophage colony-stimulating factor (GM-CSF) and interleukin-3 on the secretory capacity of human blood eosinophils. 61 54
2197048 1990
22
Clinical and morphologic spectrum of renal involvement in idiopathic hypereosinophilic syndrome. 61
33398597 2021
23
Idiopathic hypereosinophilic syndrome in hemodialysis patients: Case reports. 61
33725918 2021
24
A flare up of idiopathic hypereosinophilic syndrome due to COVID-19. 61
33106869 2021
25
Reply to Correspondence: Response to a case report: idiopathic hypereosinophilic syndrome in remission with benralizumab treatment after relapse with mepolizumab. 61
33437491 2021
26
A systems biology approach for defining the potential molecular framework of idiopathic hypereosinophilic syndrome with cutaneous involvement. 61
33413980 2021
27
Response to a case report: Idiopathic hypereosinophilic syndrome in remission with benralizumab treatment after relapse with mepolizumab. 61
33425360 2021
28
Hypereosinophilic syndrome with multiorgan involvement: an interdisciplinary work-up. 61
33541953 2021
29
Favorable Response to Interferon-α in Infantile-onset Idiopathic Hypereosinophilic Syndrome Complicated by Status Epilepticus During Treatment. 61
33448715 2021
30
Successful treatment of idiopathic hypereosinophilic syndrome with benralizumab in a pediatric patient. 61
32882445 2021
31
Idiopathic Hypereosinophilic Syndrome with Multiple Organ Involvement. 61
33776712 2021
32
Idiopathic hypereosinophilic syndrome in remission with benralizumab treatment after relapse with mepolizumab. 61
33005423 2020
33
The role of eosinophil morphology in distinguishing between reactive eosinophilia and eosinophilia as a feature of a myeloid neoplasm. 61
32860711 2020
34
Idiopathic hypereosinophilic syndrome: A rare diagnosis in children. 61
33088541 2020
35
Idiopathic hypereosinophilic syndrome with formation of multiple liver mass lesions. 61
32232770 2020
36
Acute progressive stroke with middle cerebral artery occlusion caused by idiopathic hypereosinophilic syndrome: a case report. 61
33003998 2020
37
Idiopathic hypereosinophilic syndrome associated with rapid progression of cardiac, pulmonary and skin infiltration. 61
32555925 2020
38
Idiopathic hypereosinophilic syndrome presenting as mononeurits multiplex. Lessons learned after 18-months follow-up. 61
32900523 2020
39
An unusual presentation of Idiopathic hypereosinophilic syndrome. 61
32377956 2020
40
Colon perforation due to cytomegalovirus infection in a patient with idiopathic hypereosinophilic syndrome: a case report. 61
32703162 2020
41
A systems biology approach for defining the potential molecular framework of idiopathic hypereosinophilic syndrome with cutaneous involvement. 61
32019674 2020
42
Ascites in a young male: idiopathic FIP1L1-PDGFRA-negative hypereosinophilic syndrome. 61
32002188 2020
43
Familial clustering of hypereosinophilic diseases treated with mepolizumab: a case report from Japan. 61
31594295 2020
44
Idiopathic hypereosinophilic syndrome presenting as monoplegia. 61
31818899 2019
45
Idiopathic hypereosinophilic syndrome with cutaneous necrosis and multiorgan embolism. 61
31763430 2019
46
Hypereosinophilic dermatitis: generalised lichenification and gyrate erythema as the sole manifestation of idiopathic hypereosinophilic syndrome. 61
31619402 2019
47
World Health Organization-defined eosinophilic disorders: 2019 update on diagnosis, risk stratification, and management. 61
31423623 2019
48
Acute kidney injury secondary to thrombotic microangiopathy associated with idiopathic hypereosinophilic syndrome: a case report and review of the literature. 61
31484586 2019
49
Loeffler Endocarditis in Idiopathic Hypereosinophilic Syndrome Demonstrated by Magnetic Resonance Imaging Effectively Treated by Corticosteroids. 61
31571804 2019
50
Skin-limited idiopathic hypereosinophilic syndrome presenting with retiform purpura. 61
31453308 2019

Variations for Hypereosinophilic Syndrome, Idiopathic

ClinVar genetic disease variations for Hypereosinophilic Syndrome, Idiopathic:

6 (show top 50) (show all 144)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDGFRA NM_006206.6(PDGFRA):c.2021C>T (p.Thr674Ile) SNV Pathogenic 13550 rs121908587 GRCh37: 4:55144547-55144547
GRCh38: 4:54278380-54278380
2 PDGFRA NM_006206.6(PDGFRA):c.*2856A>G SNV Uncertain significance 348952 rs886059463 GRCh37: 4:55164295-55164295
GRCh38: 4:54298128-54298128
3 PDGFRA NM_006206.6(PDGFRA):c.*2111G>A SNV Uncertain significance 348940 rs554089461 GRCh37: 4:55163550-55163550
GRCh38: 4:54297383-54297383
4 PDGFRA NM_006206.6(PDGFRA):c.*72C>A SNV Uncertain significance 348912 rs886059449 GRCh37: 4:55161511-55161511
GRCh38: 4:54295344-54295344
5 PDGFRA NM_006206.6(PDGFRA):c.219T>C (p.Asn73=) SNV Uncertain significance 348894 rs886059443 GRCh37: 4:55127431-55127431
GRCh38: 4:54261264-54261264
6 PDGFRA NM_006206.6(PDGFRA):c.*970_*973CAAA[1] Microsatellite Uncertain significance 348923 rs757111915 GRCh37: 4:55162406-55162409
GRCh38: 4:54296239-54296242
7 PDGFRA NM_006206.5(PDGFRA):c.-318G>A SNV Uncertain significance 348889 rs533627398 GRCh37: 4:55095277-55095277
GRCh38: 4:54229110-54229110
8 PDGFRA NM_006206.6(PDGFRA):c.*1111del Deletion Uncertain significance 348926 rs34529347 GRCh37: 4:55162535-55162535
GRCh38: 4:54296368-54296368
9 PDGFRA NM_006206.6(PDGFRA):c.2742G>C (p.Arg914=) SNV Uncertain significance 240334 rs56384252 GRCh37: 4:55155033-55155033
GRCh38: 4:54288866-54288866
10 PDGFRA NM_006206.6(PDGFRA):c.*1928G>C SNV Uncertain significance 348936 rs748063948 GRCh37: 4:55163367-55163367
GRCh38: 4:54297200-54297200
11 PDGFRA NM_006206.6(PDGFRA):c.*332G>A SNV Uncertain significance 348915 rs750090756 GRCh37: 4:55161771-55161771
GRCh38: 4:54295604-54295604
12 PDGFRA NM_006206.6(PDGFRA):c.*534A>G SNV Uncertain significance 348918 rs566508858 GRCh37: 4:55161973-55161973
GRCh38: 4:54295806-54295806
13 PDGFRA NM_006206.6(PDGFRA):c.1821G>C (p.Val607=) SNV Uncertain significance 348903 rs886059446 GRCh37: 4:55143589-55143589
GRCh38: 4:54277422-54277422
14 PDGFRA NM_006206.5(PDGFRA):c.-284G>T SNV Uncertain significance 348891 rs145549583 GRCh37: 4:55095311-55095311
GRCh38: 4:54229144-54229144
15 PDGFRA NM_006206.6(PDGFRA):c.*2840A>G SNV Uncertain significance 348951 rs886059462 GRCh37: 4:55164279-55164279
GRCh38: 4:54298112-54298112
16 PDGFRA NM_006206.6(PDGFRA):c.2003-7C>T SNV Uncertain significance 348904 rs886059447 GRCh37: 4:55144522-55144522
GRCh38: 4:54278355-54278355
17 PDGFRA NM_006206.6(PDGFRA):c.827C>T (p.Thr276Met) SNV Uncertain significance 348896 rs142492533 GRCh37: 4:55133523-55133523
GRCh38: 4:54267356-54267356
18 PDGFRA NM_006206.6(PDGFRA):c.*2110C>T SNV Uncertain significance 348939 rs777478254 GRCh37: 4:55163549-55163549
GRCh38: 4:54297382-54297382
19 PDGFRA NM_006206.6(PDGFRA):c.2674+6G>A SNV Uncertain significance 348907 rs886059448 GRCh37: 4:55153714-55153714
GRCh38: 4:54287547-54287547
20 PDGFRA NM_006206.6(PDGFRA):c.*1809G>C SNV Uncertain significance 348934 rs565989173 GRCh37: 4:55163248-55163248
GRCh38: 4:54297081-54297081
21 PDGFRA NM_006206.6(PDGFRA):c.*2494C>A SNV Uncertain significance 348945 rs886059461 GRCh37: 4:55163933-55163933
GRCh38: 4:54297766-54297766
22 PDGFRA NM_006206.6(PDGFRA):c.*936A>C SNV Uncertain significance 348922 rs886059452 GRCh37: 4:55162375-55162375
GRCh38: 4:54296208-54296208
23 PDGFRA NM_006206.6(PDGFRA):c.954A>G (p.Lys318=) SNV Uncertain significance 348898 rs886059444 GRCh37: 4:55133741-55133741
GRCh38: 4:54267574-54267574
24 PDGFRA NM_006206.6(PDGFRA):c.*2475C>T SNV Uncertain significance 348944 rs886059460 GRCh37: 4:55163914-55163914
GRCh38: 4:54297747-54297747
25 PDGFRA NM_006206.6(PDGFRA):c.*1109_*1111del Deletion Uncertain significance 348925 rs34529347 GRCh37: 4:55162535-55162537
GRCh38: 4:54296368-54296370
26 PDGFRA NM_006206.6(PDGFRA):c.*1112_*1113del Deletion Uncertain significance 348927 rs886059456 GRCh37: 4:55162550-55162551
GRCh38: 4:54296383-54296384
27 PDGFRA NM_006206.6(PDGFRA):c.*1971C>T SNV Uncertain significance 348938 rs886059459 GRCh37: 4:55163410-55163410
GRCh38: 4:54297243-54297243
28 PDGFRA NM_006206.6(PDGFRA):c.*1821A>C SNV Uncertain significance 348935 rs187821520 GRCh37: 4:55163260-55163260
GRCh38: 4:54297093-54297093
29 PDGFRA NM_006206.6(PDGFRA):c.*2970G>T SNV Uncertain significance 348953 rs752208389 GRCh37: 4:55164409-55164409
GRCh38: 4:54298242-54298242
30 PDGFRA NM_006206.6(PDGFRA):c.1365-12T>C SNV Uncertain significance 348901 rs886059445 GRCh37: 4:55139692-55139692
GRCh38: 4:54273525-54273525
31 PDGFRA NM_006206.6(PDGFRA):c.*1521C>T SNV Uncertain significance 348931 rs886059457 GRCh37: 4:55162960-55162960
GRCh38: 4:54296793-54296793
32 PDGFRA NM_006206.6(PDGFRA):c.*2604G>T SNV Uncertain significance 348950 rs547925170 GRCh37: 4:55164043-55164043
GRCh38: 4:54297876-54297876
33 PDGFRA NM_006206.6(PDGFRA):c.2574C>A (p.Pro858=) SNV Uncertain significance 348906 rs771421611 GRCh37: 4:55153608-55153608
GRCh38: 4:54287441-54287441
34 PDGFRA NM_006206.6(PDGFRA):c.*1706T>C SNV Uncertain significance 348933 rs886059458 GRCh37: 4:55163145-55163145
GRCh38: 4:54296978-54296978
35 PDGFRA NM_006206.6(PDGFRA):c.*2496A>G SNV Uncertain significance 348946 rs184179322 GRCh37: 4:55163935-55163935
GRCh38: 4:54297768-54297768
36 PDGFRA NM_006206.6(PDGFRA):c.1122-6T>A SNV Uncertain significance 348900 rs754623338 GRCh37: 4:55136794-55136794
GRCh38: 4:54270627-54270627
37 PDGFRA NM_006206.6(PDGFRA):c.*574_*575del Deletion Uncertain significance 348919 rs886059451 GRCh37: 4:55162013-55162014
GRCh38: 4:54295846-54295847
38 PDGFRA NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val) SNV Uncertain significance 218679 rs199827643 GRCh37: 4:55136813-55136813
GRCh38: 4:54270646-54270646
39 PDGFRA NM_006206.6(PDGFRA):c.878G>A (p.Arg293His) SNV Uncertain significance 528615 rs373948582 GRCh37: 4:55133574-55133574
GRCh38: 4:54267407-54267407
40 PDGFRA NM_006206.6(PDGFRA):c.1274A>G (p.His425Arg) SNV Uncertain significance 407410 rs769631321 GRCh37: 4:55138597-55138597
GRCh38: 4:54272430-54272430
41 PDGFRA NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro) SNV Uncertain significance 41793 rs139236922 GRCh37: 4:55138648-55138648
GRCh38: 4:54272481-54272481
42 PDGFRA NM_006206.6(PDGFRA):c.1651C>A (p.Gln551Lys) SNV Uncertain significance 407400 rs770950644 GRCh37: 4:55140790-55140790
GRCh38: 4:54274623-54274623
43 PDGFRA NM_006206.6(PDGFRA):c.2965A>G (p.Ile989Val) SNV Uncertain significance 407398 rs145019788 GRCh37: 4:55156564-55156564
GRCh38: 4:54290397-54290397
44 PDGFRA NM_006206.6(PDGFRA):c.*998C>G SNV Uncertain significance 899743 GRCh37: 4:55162437-55162437
GRCh38: 4:54296270-54296270
45 PDGFRA NM_006206.6(PDGFRA):c.*1039A>G SNV Uncertain significance 899744 GRCh37: 4:55162478-55162478
GRCh38: 4:54296311-54296311
46 PDGFRA NM_006206.6(PDGFRA):c.*1050C>T SNV Uncertain significance 899745 GRCh37: 4:55162489-55162489
GRCh38: 4:54296322-54296322
47 PDGFRA NM_006206.6(PDGFRA):c.*1102T>G SNV Uncertain significance 899746 GRCh37: 4:55162541-55162541
GRCh38: 4:54296374-54296374
48 PDGFRA NM_006206.6(PDGFRA):c.995T>C (p.Val332Ala) SNV Uncertain significance 348899 rs878854837 GRCh37: 4:55133782-55133782
GRCh38: 4:54267615-54267615
49 PDGFRA NM_006206.6(PDGFRA):c.*136G>A SNV Uncertain significance 348914 rs886059450 GRCh37: 4:55161575-55161575
GRCh38: 4:54295408-54295408
50 PDGFRA NM_006206.6(PDGFRA):c.-13+12G>T SNV Uncertain significance 899419 GRCh37: 4:55095594-55095594
GRCh38: 4:54229427-54229427

Copy number variations for Hypereosinophilic Syndrome, Idiopathic from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 120036 18 19523559 19789027 Insertion LAMA3 Idiopathic hypereosinophilic syndrome
2 187722 4 53938619 54020599 Translate FIP1L1 Idiopathic hypereosinophilic syndrome

Expression for Hypereosinophilic Syndrome, Idiopathic

Search GEO for disease gene expression data for Hypereosinophilic Syndrome, Idiopathic.

Pathways for Hypereosinophilic Syndrome, Idiopathic

Pathways related to Hypereosinophilic Syndrome, Idiopathic according to GeneCards Suite gene sharing:

(show all 39)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 TGFA PDGFRB PDGFRA KIT IL5 IL3
2
Show member pathways
13.31 TGFA PDGFRB PDGFRA KIT IL3
3
Show member pathways
13.28 TGFA PDGFRB PDGFRA KIT IL5 IL3
4
Show member pathways
13.26 PDGFRB PDGFRA KIT IL5 IL3
5
Show member pathways
13.14 PDGFRB PDGFRA KIT IL5 IL3
6
Show member pathways
13.1 TGFA PDGFRB PDGFRA KIT IL3
7
Show member pathways
13.1 TGFA PDGFRB PDGFRA KIT IL5 IL3
8
Show member pathways
13.05 TGFA PDGFRB PDGFRA KIT IL3
9
Show member pathways
12.95 TGFA PDGFRB PDGFRA KIT IL5 IL3
10
Show member pathways
12.83 TGFA PDGFRB PDGFRA KIT IL3
11
Show member pathways
12.8 TGFA PDGFRB PDGFRA KIT IL3
12
Show member pathways
12.73 TGFA PDGFRB PDGFRA KIT IL3
13 12.57 TGFA PDGFRB PDGFRA KIT
14
Show member pathways
12.54 TGFA PDGFRB PDGFRA KIT
15
Show member pathways
12.3 TGFA PDGFRB PDGFRA
16
Show member pathways
12.25 PDGFRB PDGFRA IL5
17
Show member pathways
12.22 PDGFRB PDGFRA KIT
18
Show member pathways
12.16 PDGFRB PDGFRA IL5 IL3
19 12.16 TGFA PDGFRB PDGFRA KIT IL5 IL3
20
Show member pathways
12.02 TGFA PDGFRB PDGFRA KIT IL3
21 11.91 WT1 PDGFRB IL3
22 11.82 KIT IL5 IL3
23 11.75 KIT IL5 IL3
24 11.73 TGFA PDGFRB PDGFRA KIT
25 11.68 TGFA PDGFRB PDGFRA
26 11.54 TGFA PDGFRB PDGFRA IL3
27 11.53 PDGFRB PDGFRA KIT
28 11.4 PDGFRA KIT
29 11.36 IL5 IL3
30 11.35 KIT IL3
31 11.32 PDGFRB PDGFRA
32
Show member pathways
11.32 PDGFRB PDGFRA KIT
33
Show member pathways
11.31 TGFA PDGFRB PDGFRA KIT IL5 IL3
34 11.3 PDGFRB PDGFRA
35 11.1 IL5 IL3
36
Show member pathways
11.08 PDGFRB PDGFRA KIT
37 11 PDGFRB PDGFRA
38 10.76 PDGFRB PDGFRA
39 10.54 TGFA PDGFRB PDGFRA KIT IL5 IL3

GO Terms for Hypereosinophilic Syndrome, Idiopathic

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

# Name GO ID Score Top Affiliating Genes
1 intrinsic component of plasma membrane GO:0031226 9.16 PDGFRB PDGFRA
2 receptor complex GO:0043235 9.13 PDGFRB PDGFRA KIT
3 cell surface GO:0009986 8.92 TGFA PDGFRB PDGFRA KIT

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.81 KIT IL5 IL3
2 positive regulation of cell migration GO:0030335 9.81 PDGFRB PDGFRA KIT
3 protein autophosphorylation GO:0046777 9.79 PDGFRB PDGFRA KIT
4 peptidyl-tyrosine phosphorylation GO:0018108 9.76 PDGFRB PDGFRA KIT
5 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.75 PDGFRB PDGFRA KIT
6 male gonad development GO:0008584 9.73 WT1 PDGFRB KIT
7 wound healing GO:0042060 9.72 TGFA PDGFRB PDGFRA
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.69 TGFA IL5 IL3
9 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.67 PDGFRB PDGFRA KIT
10 phosphatidylinositol-mediated signaling GO:0048015 9.65 PDGFRB PDGFRA
11 cell chemotaxis GO:0060326 9.65 PDGFRB PDGFRA KIT
12 positive regulation of fibroblast proliferation GO:0048146 9.64 PDGFRB PDGFRA
13 positive regulation of JAK-STAT cascade GO:0046427 9.63 KIT IL5
14 positive regulation of kinase activity GO:0033674 9.63 PDGFRB PDGFRA KIT
15 platelet-derived growth factor receptor signaling pathway GO:0048008 9.62 PDGFRB PDGFRA
16 positive regulation of mitotic nuclear division GO:0045840 9.62 TGFA PDGFRB
17 positive regulation of protein kinase B signaling GO:0051897 9.62 TGFA PDGFRB PDGFRA KIT
18 adrenal gland development GO:0030325 9.61 WT1 PDGFRA
19 embryonic hemopoiesis GO:0035162 9.6 KIT IL3
20 male genitalia development GO:0030539 9.59 WT1 PDGFRA
21 cardiac myofibril assembly GO:0055003 9.57 PDGFRB PDGFRA
22 metanephric mesenchyme development GO:0072075 9.54 WT1 PDGFRB
23 retina vasculature development in camera-type eye GO:0061298 9.52 PDGFRB PDGFRA
24 metanephric S-shaped body morphogenesis GO:0072284 9.43 WT1 PDGFRB
25 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.43 PDGFRB PDGFRA KIT
26 positive regulation of cell proliferation GO:0008284 9.43 TGFA PDGFRB PDGFRA KIT IL5 IL3
27 metanephric glomerular capillary formation GO:0072277 9.4 PDGFRB PDGFRA
28 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.37 PDGFRB PDGFRA
29 positive regulation of phospholipase C activity GO:0010863 9.33 PDGFRB PDGFRA KIT
30 MAPK cascade GO:0000165 9.1 TGFA PDGFRB PDGFRA KIT IL5 IL3

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.54 TGFA IL5 IL3
2 protein tyrosine kinase activity GO:0004713 9.43 PDGFRB PDGFRA KIT
3 growth factor binding GO:0019838 9.4 PDGFRB PDGFRA
4 platelet-derived growth factor receptor binding GO:0005161 9.32 PDGFRB PDGFRA
5 platelet-derived growth factor binding GO:0048407 9.16 PDGFRB PDGFRA
6 vascular endothelial growth factor binding GO:0038085 8.96 PDGFRB PDGFRA
7 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.8 PDGFRB PDGFRA KIT

Sources for Hypereosinophilic Syndrome, Idiopathic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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