MCID: IGR001
MIFTS: 53

Ige Responsiveness, Atopic

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Ige Responsiveness, Atopic

MalaCards integrated aliases for Ige Responsiveness, Atopic:

Name: Ige Responsiveness, Atopic 57 29 6 40 73
Atopy 57 75 13 55 73
Atopy, Susceptibility to 57 6
Ige, Elevated Level of 57 6
Ige Response Underlying Allergic Asthma and Rhinitis 57
Immunoglobulin E, Basic Level of, in Serum 57
Hypersensitivity, Immediate 44
Immediate Hypersensitivity 73
Atopic Hypersensitivity 75
Ige, Level of; Igel 57
Ige, Level of 57
Iger 57
Igel 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ige responsiveness, atopic:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ige Responsiveness, Atopic

UniProtKB/Swiss-Prot : 75 Atopic hypersensitivity: A condition characterized by predisposition to develop hypersensitivity reactions. Atopic individuals can develop eczema, allergic rhinitis and allergic asthma.

MalaCards based summary : Ige Responsiveness, Atopic, also known as atopy, is related to churg-strauss syndrome and sinusitis. An important gene associated with Ige Responsiveness, Atopic is IL21R (Interleukin 21 Receptor), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. Affiliated tissues include skin, colon and testes, and related phenotypes are asthma and eczema

Description from OMIM: 147050

Related Diseases for Ige Responsiveness, Atopic

Diseases related to Ige Responsiveness, Atopic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 181)
# Related Disease Score Top Affiliating Genes
1 churg-strauss syndrome 31.9 IL10 IL5 RNASE3
2 sinusitis 30.6 IL4R IL5 RNASE3
3 milk allergy 30.4 IL10 IL4 IL5 RNASE3
4 otitis media 30.4 IGHE IL10 RNASE3
5 brucellosis 30.4 IFNG IL10 IL4
6 rhinitis 30.3 IGHE IL13 IL4 IL4R IL5 RNASE3
7 vernal keratoconjunctivitis 30.3 IL13 IL4 IL5 RNASE3
8 aspergillosis 30.1 IFNG IL10 IL4 IL5
9 keratoconjunctivitis 29.8 IFNG IL13 IL4 IL5 RNASE3
10 esophagitis, eosinophilic, 1 29.7 FLG IL13 IL5 STAT6
11 contact dermatitis 29.4 FLG IFNG IL10 IL4 IL5
12 dermatitis 28.8 FLG IFNG IGHE IL13 IL4 IL5
13 myocardial infarction 28.8 ADRB2 CD14 IL10 PLA2G7 SELP
14 bronchiolitis 28.5 IFNG IGHE IL10 IL13 IL4 IL4R
15 allergic rhinitis 28.3 HAVCR1 IFNG IGHE IL10 IL13 IL4
16 skin disease 28.2 FLG IFNG IL10 IL13 IL4 IL5
17 food allergy 27.9 FLG IFNG IL10 IL13 IL4 IL5
18 dermatitis, atopic 26.9 FLG IFNG IGHE IL10 IL13 IL4
19 asthma 26.2 ADRB2 FLG HAVCR1 IFNG IGHE IL10
20 asthma-related traits 4 11.1
21 peeling skin syndrome 1 11.0
22 asthma-related traits 1 10.9
23 asthma-related traits 2 10.9
24 asthma-related traits 5 10.9
25 asthma-related traits 7 10.9
26 peeling skin syndrome 3 10.9
27 peeling skin syndrome 5 10.9
28 mycoplasmal pneumonia 10.9 IFNG IL4
29 angioimmunoblastic lymphadenopathy with dysproteinemia 10.8 IL13 IL5
30 tropical endomyocardial fibrosis 10.8 IL10 IL4
31 eosinophilic fasciitis 10.8 IFNG IL5
32 loeffler endocarditis 10.8 IL5 RNASE3
33 bazex syndrome 10.8
34 asthma-related traits 3 10.8
35 asthma-related traits 6 10.8
36 platelet-activating factor acetylhydrolase deficiency 10.8
37 immunodeficiency 23 10.8
38 allergic angiitis 10.8
39 eosinophilic granulomatosis with polyangiitis 10.8
40 keratosis follicularis spinulosa decalvans 10.8
41 staphylococcal toxic shock syndrome 10.7 IFNG IGHE
42 angiostrongyliasis 10.7 IL13 IL4 IL5
43 eosinophilic meningitis 10.7 IL13 IL4 IL5
44 eosinophilic gastritis 10.7 IL13 IL4 IL5
45 egg allergy 10.7 IGHE IL4 IL5
46 chronic tic disorder 10.7 IL13 IL4 IL5
47 ascaridiasis 10.7 IL10 IL13
48 tungiasis 10.7 IL10 IL4
49 cough variant asthma 10.7 IL4 IL5 RNASE3
50 intrinsic asthma 10.7 IL4 IL5 RNASE3

Graphical network of the top 20 diseases related to Ige Responsiveness, Atopic:



Diseases related to Ige Responsiveness, Atopic

Symptoms & Phenotypes for Ige Responsiveness, Atopic

Symptoms via clinical synopsis from OMIM:

57
Immunology:
atopic hypersensitivity

Skin:
eczema

Pulmonary:
asthma
hay fever

Lab:
ige level control


Clinical features from OMIM:

147050

Human phenotypes related to Ige Responsiveness, Atopic:

32
# Description HPO Frequency HPO Source Accession
1 asthma 32 HP:0002099
2 eczema 32 HP:0000964
3 allergic rhinitis 32 HP:0003193
4 increased ige level 32 HP:0003212

MGI Mouse Phenotypes related to Ige Responsiveness, Atopic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.24 MS4A2 IL21R ADRB2 IL4 CD14 IFNG
2 immune system MP:0005387 10.16 MS4A2 IL21R ADRB2 IL4 CD14 IFNG
3 homeostasis/metabolism MP:0005376 10.13 IL21R ADRB2 IL4 CD14 IFNG IL4R
4 digestive/alimentary MP:0005381 9.95 IL9 IL13 IL4 IFNG IL4R IL10
5 integument MP:0010771 9.76 IL13 IL4 IFNG IL4R IL10 SELP
6 liver/biliary system MP:0005370 9.5 IL4 IFNG IL4R IL10 IL5 SELP
7 respiratory system MP:0005388 9.32 IL4 CD14 IFNG IL4R IL10 IL5

Drugs & Therapeutics for Ige Responsiveness, Atopic

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Vegetation in Kindergartens on the Immune Response of Children Active, not recruiting NCT02733926 Not Applicable

Search NIH Clinical Center for Ige Responsiveness, Atopic

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: hypersensitivity, immediate

Genetic Tests for Ige Responsiveness, Atopic

Genetic tests related to Ige Responsiveness, Atopic:

# Genetic test Affiliating Genes
1 Ige Responsiveness, Atopic 29 HAVCR1 IL21R IL4R MS4A2 PHF11 PLA2G7 SELP SPINK5

Anatomical Context for Ige Responsiveness, Atopic

MalaCards organs/tissues related to Ige Responsiveness, Atopic:

41
Skin, Colon, Testes, Eye, T Cells

Publications for Ige Responsiveness, Atopic

Articles related to Ige Responsiveness, Atopic:

(show all 34)
# Title Authors Year
1
A flavanone derivative from the Asian medicinal herb (Perilla frutescens) potently suppresses IgE-mediated immediate hypersensitivity reactions. ( 27986566 )
2017
2
Prevalence of parent-reported immediate hypersensitivity food allergy in Chilean school-aged children. ( 24388812 )
2014
3
Immediate hypersensitivity and serum IgE antibody responses in patients with dermatophytosis. ( 22523906 )
2012
4
Severe immediate hypersensitivity and allergic contact dermatitis caused by hair dyes. ( 22681466 )
2012
5
Case Report: perioperative immediate hypersensitivity involves not only allergy but also mastocytosis. ( 21347740 )
2011
6
An immunoglobulin-like receptor, Allergin-1, inhibits immunoglobulin E-mediated immediate hypersensitivity reactions. ( 20526344 )
2010
7
Are biologics safe in the treatment of atopic dermatitis? A review with a focus on immediate hypersensitivity reactions. ( 19646779 )
2009
8
Long-term prognosis of immediate hypersensitivity type of occupational laryngitis. ( 18760580 )
2009
9
Immediate hypersensitivity to penicillins with negative skin tests--the value of specific IgE. ( 19877564 )
2009
10
Immediate hypersensitivity elicits renin release from cardiac mast cells. ( 18087164 )
2008
11
Transcriptional analyses before and after suppression of immediate hypersensitivity reactions by CCR3 blockade in eyes with experimental allergic conjunctivitis. ( 18658092 )
2008
12
Immediate hypersensitivity type of occupational laryngitis in a welder exposed to welding fumes of stainless steel. ( 16570256 )
2006
13
Effect of pollen-mediated oxidative stress on immediate hypersensitivity reactions and late-phase inflammation in allergic conjunctivitis. ( 16210058 )
2005
14
Readministration of high-dose methotrexate in a patient with suspected immediate hypersensitivity and T-cell acute lymphoblastic lymphoma. ( 15510585 )
2004
15
Treatment with Propionibacterium acnes modulates the late phase reaction of immediate hypersensitivity in mice. ( 12880687 )
2003
16
Pepsin-resistant 16-kD buckwheat protein is associated with immediate hypersensitivity reaction in patients with buckwheat allergy. ( 12372998 )
2002
17
Specific IgE levels in the diagnosis of immediate hypersensitivity to cows' milk protein in the infant. ( 11150010 )
2001
18
Targeting Janus kinase 3 in mast cells prevents immediate hypersensitivity reactions and anaphylaxis. ( 10480916 )
1999
19
Urticaria from beer: an immediate hypersensitivity reaction due to a 10-kDa protein derived from barley. ( 10202351 )
1999
20
The effect of immediate-hypersensitivity reactions on the level of SLPI, granulocyte elastase, alpha1-antitrypsin, and albumin in nasal secretions, by the method of unilateral antigen challenge. ( 10485390 )
1999
21
Control of IgE responses. V. Oral administration of a synthetic derivative of the inner bacterial cell wall (SDZ 280.636) to sensitized mice induces isotype specific suppression of peak hapten specific IgE antibody forming cell responses, serum IgE levels and immediate hypersensitivity responses. ( 9561922 )
1998
22
[Immediate hypersensitive reactions to the ingestion of egg white and IgE binding to the egg white components]. ( 7802605 )
1994
23
Immediate hypersensitivity to bakery, brewery and wine products in yeast-sensitive atopic dermatitis patients. ( 7812885 )
1994
24
Immediate hypersensitivity. A brief, personal history. ( 7695478 )
1994
25
[Delayed hypersensitivity to protamine and immediate hypersensitivity to insulin]. ( 1831420 )
1991
26
Immediate hypersensitivity reaction to single-dose parenteral ceftriaxone therapy for gonorrhea. ( 2028365 )
1991
27
Immediate hypersensitivity in colon of children with chronic Trichuris trichiura dysentery. ( 1719315 )
1991
28
IgE and immediate hypersensitivity. ( 2249356 )
1990
29
Immediate hypersensitivity gastropathy and duodenogastric reflux. ( 6941390 )
1981
30
The association of an HLA 'asthma-associated' haplotype and immediate hypersensitivity in familial asthma. ( 7334219 )
1981
31
Penicillin allergy: anti-penicillin IgE antibodies and immediate hypersensitivity skin reactions employing major and minor determinants of penicillin. ( 7436456 )
1980
32
Immediate hypersensitivity to seminal fluid and atopic dermatitis. ( 7356355 )
1980
33
Extrinsic allergic alveolitis from bird exposure. Studies on the immediate hypersensitivity reaction. ( 563307 )
1977
34
Infantile agammaglobulinemia and immediate hypersensitivity to penicillin G. ( 576692 )
1977

Variations for Ige Responsiveness, Atopic

ClinVar genetic disease variations for Ige Responsiveness, Atopic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IL21R IL21R, -83T-C single nucleotide variant Pathogenic
2 IL4R NM_000418.3(IL4R): c.1727A> G (p.Gln576Arg) single nucleotide variant risk factor rs1801275 GRCh37 Chromosome 16, 27374400: 27374400
3 IL4R NM_000418.3(IL4R): c.1727A> G (p.Gln576Arg) single nucleotide variant risk factor rs1801275 GRCh38 Chromosome 16, 27363079: 27363079

Expression for Ige Responsiveness, Atopic

Search GEO for disease gene expression data for Ige Responsiveness, Atopic.

Pathways for Ige Responsiveness, Atopic

Pathways related to Ige Responsiveness, Atopic according to GeneCards Suite gene sharing:

(show all 36)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 CD14 IFNG IGHE IL10 IL13 IL4
2
Show member pathways
13.64 CD14 IFNG IL10 IL13 IL21R IL4
3
Show member pathways
13.46 IFNG IL10 IL13 IL4 IL4R IL5
4
Show member pathways
13.36 IL10 IL13 IL4 IL4R IL5 IL9
5
Show member pathways
13.31 IFNG IGHE IL10 IL13 IL4 IL4R
6
Show member pathways
13.25 IL10 IL13 IL4 IL4R IL5 IL9
7
Show member pathways
12.87 IFNG IL10 IL13 IL4 IL4R IL5
8
Show member pathways
12.85 IGHE IL21R IL4 IL4R IL9 STAT6
9 12.78 IFNG IL13 IL4 IL4R IL5 STAT6
10
Show member pathways
12.53 IGHE IL13 IL4 IL5 MS4A2
11
Show member pathways
12.51 IFNG IL10 IL13 IL21R IL4 IL4R
12 12.5 HAVCR1 IFNG IL10 IL4 STAT6
13
Show member pathways
12.38 IFNG IL10 IL4 IL5 IL9
14
Show member pathways
12.35 IFNG IL10 IL13 IL21R IL4 IL4R
15
Show member pathways
12.28 IFNG IL13 IL4 IL5
16
Show member pathways
12.05 IFNG IL10 IL13 IL4 IL4R IL5
17 11.99 CD14 IFNG IL10 IL4 IL5
18 11.99 IGHE IL10 IL13 IL4 IL4R STAT6
19
Show member pathways
11.9 IFNG IL4 STAT6
20 11.88 IFNG IL10 IL21R IL4R STAT6
21 11.85 CD14 IL4 IL4R IL5
22 11.82 CD14 IFNG IL10
23 11.78 IFNG IL10 IL13 IL4 IL5 IL9
24 11.77 IFNG IL13 IL4 IL5
25
Show member pathways
11.72 IFNG IL4 IL5
26 11.7 CD14 IFNG IL10
27 11.61 IL13 IL4 IL5
28 11.53 IL10 IL21R IL4R
29 11.5 IGHE IL10 IL4 IL4R IL5 SELP
30 11.49 IL10 IL13 IL4
31 11.49 IFNG IL10 SELP
32 11.34 IFNG IL13 IL4 IL5 IL9
33 11.33 IFNG IL4 IL4R IL5
34 11.24 IFNG IL10 IL13 IL4 IL5
35 10.89 IFNG IL10 IL13 IL4 IL4R IL5
36 10.85 IFNG IL10 IL13 IL4 IL5 IL9

GO Terms for Ige Responsiveness, Atopic

Cellular components related to Ige Responsiveness, Atopic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.73 CD14 IFNG IGHE IL10 IL13 IL4
2 external side of plasma membrane GO:0009897 9.55 CD14 IGHE IL13 MS4A2 SELP
3 extracellular space GO:0005615 9.36 CD14 IFNG IL10 IL13 IL4 IL4R

Biological processes related to Ige Responsiveness, Atopic according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.88 ADRB2 CD14 IFNG MS4A2
2 response to lipopolysaccharide GO:0032496 9.85 CD14 IL10 IL13 SELP
3 regulation of signaling receptor activity GO:0010469 9.8 IFNG IL10 IL13 IL4 IL5 IL9
4 inflammatory response GO:0006954 9.7 CD14 IL10 IL13 IL5 IL9 MS4A2
5 positive regulation of B cell proliferation GO:0030890 9.67 IL13 IL4 IL5
6 negative regulation of endothelial cell apoptotic process GO:2000352 9.61 IL10 IL13 IL4
7 response to molecule of bacterial origin GO:0002237 9.57 CD14 IL10
8 positive regulation of mast cell degranulation GO:0043306 9.56 IL13 IL4R
9 positive regulation of immunoglobulin production GO:0002639 9.54 IL13 IL4R
10 positive regulation of MHC class II biosynthetic process GO:0045348 9.52 IL10 IL4
11 type 2 immune response GO:0042092 9.51 IL10 IL4
12 cytokine-mediated signaling pathway GO:0019221 9.5 IGHE IL10 IL13 IL4 IL4R IL5
13 regulation of isotype switching GO:0045191 9.48 IL10 IL4
14 interleukin-4-mediated signaling pathway GO:0035771 9.46 IL4R STAT6
15 positive regulation of macrophage activation GO:0043032 9.43 IL10 IL13 IL4R
16 positive regulation of isotype switching to IgE isotypes GO:0048295 9.4 IL4 STAT6
17 negative regulation of complement-dependent cytotoxicity GO:1903660 9.37 IL13 IL4
18 immune response GO:0006955 9.28 IFNG IGHE IL10 IL13 IL4 IL4R

Molecular functions related to Ige Responsiveness, Atopic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.56 IL10 IL4 IL5 IL9
2 lipopolysaccharide binding GO:0001530 9.33 CD14 RNASE3 SELP
3 cytokine receptor binding GO:0005126 9.13 IL13 IL4 IL9
4 cytokine activity GO:0005125 9.1 IFNG IL10 IL13 IL4 IL5 IL9

Sources for Ige Responsiveness, Atopic

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
Content
Loading form....