ATOPY
MCID: IGR001
MIFTS: 62

Ige Responsiveness, Atopic (ATOPY)

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 rhinitis. 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 testes, skin and lung, 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 291)
# Related Disease Score Top Affiliating Genes
1 churg-strauss syndrome 31.9 IL10 IL5 RNASE3
2 rhinitis 30.4 RNASE3 IL5 IL4R IL4 IL13 IGHE
3 dermatitis 30.4 SPINK5 PHF11 IL5 IL4 IL13 IGHE
4 sinusitis 30.2 IL4R IL5 RNASE3
5 milk allergy 30.2 RNASE3 IL5 IL4 IL10
6 esophagitis, eosinophilic, 1 30.1 IL13 IL5 STAT6
7 otitis media 30.0 RNASE3 IL4 IL10 IGHE
8 contact dermatitis 30.0 IL5 IL4 IL10 IFNG
9 asthma 30.0 STAT6 SPINK5 RNASE3 PLA2G7 PHF11 MS4A2
10 vernal keratoconjunctivitis 29.9 RNASE3 IL5 IL4 IL13
11 pollen allergy 29.9 RNASE3 IL5 IL4R IL13 ADRB2
12 pneumonia 29.8 IL10 IL13 IL5
13 aspergillosis 29.8 IL5 IL4 IL10 IFNG
14 drug allergy 29.8 IL4R IL5 MS4A2
15 viral infectious disease 29.8 IFNG IL10 IL4
16 allergic contact dermatitis 29.8 IL5 IL4 IL10 IFNG
17 intrinsic asthma 29.7 IL4 IL5 RNASE3
18 keratoconjunctivitis 29.7 RNASE3 IL5 IL4 IL13 IFNG
19 ascaris lumbricoides infection 29.7 IFNG IL13 IL5
20 latex allergy 29.6 RNASE3 IL5 IL4 IL13 IGHE
21 allergic rhinitis 29.6 RNASE3 MS4A2 IL5 IL4R IL4 IL13
22 autoimmune disease 29.6 IFNG IL10 IL4 IL5
23 cow milk allergy 29.6 IL5 RNASE3 IL10
24 uveitis 29.5 IFNG IL10 IL4
25 food allergy 29.5 STAT6 RNASE3 MS4A2 IL5 IL4 IL13
26 pulmonary tuberculosis 29.5 IFNG IL10 IL4
27 lung disease 29.5 RNASE3 IL5 IL13 IL10 ADRB2
28 mycoplasma pneumoniae pneumonia 29.4 IL4 IL13 IL10 IFNG
29 bronchiolitis 29.3 RNASE3 IL5 IL4R IL4 IL13 IL10
30 multiple sclerosis 29.3 IFNG IL10 IL4 IL5
31 pulmonary disease, chronic obstructive 29.3 ADRB2 IL13 RNASE3
32 tetanus 29.2 IL5 IL4 IL13 IL10 IFNG
33 psoriasis 29.1 IFNG IL10 IL13 IL4
34 skin disease 29.1 SPINK5 RNASE3 IL5 IL4 IL13 IL10
35 upper respiratory tract disease 28.9 RNASE3 MS4A2 IL5 IL4 IL13 IL10
36 dermatitis, atopic 28.8 STAT6 SPINK5 RNASE3 PHF11 MS4A2 IL9
37 malaria 28.7 IFNG IL10 IL13 IL4 IL5 IL9
38 respiratory allergy 28.7 STAT6 RNASE3 MS4A2 IL5 IL4R IL4
39 allergic hypersensitivity disease 28.5 RNASE3 MS4A2 IL9 IL5 IL4R IL4
40 allergic asthma 27.8 STAT6 RNASE3 MS4A2 IL9 IL5 IL4R
41 asthma-related traits 4 11.3
42 allergic angiitis 11.3
43 eosinophilic granulomatosis with polyangiitis 11.3
44 neurodermatitis 11.2
45 peeling skin syndrome 1 11.2
46 asthma-related traits 1 11.1
47 asthma-related traits 2 11.1
48 asthma-related traits 5 11.1
49 asthma-related traits 7 11.1
50 peeling skin syndrome 3 11.1

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
Pulmonary:
asthma
hay fever

Immunology:
atopic hypersensitivity

Skin:
eczema

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 10.17 ADRB2 CD14 IFNG IL10 IL13 IL21R
2 homeostasis/metabolism MP:0005376 10.03 ADRB2 CD14 IFNG IL10 IL13 IL21R
3 immune system MP:0005387 10.03 ADRB2 CD14 IFNG IL10 IL13 IL21R
4 endocrine/exocrine gland MP:0005379 9.97 ADRB2 IFNG IL10 IL13 IL21R IL4
5 digestive/alimentary MP:0005381 9.95 IFNG IL10 IL13 IL4 IL4R IL5
6 integument MP:0010771 9.5 IFNG IL10 IL13 IL4 IL4R SPINK5
7 respiratory system MP:0005388 9.28 CD14 IFNG IL10 IL13 IL4 IL4R

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 IL21R IL4R MS4A2 PLA2G7

Anatomical Context for Ige Responsiveness, Atopic

MalaCards organs/tissues related to Ige Responsiveness, Atopic:

41
Testes, Skin, Lung, Heart, Bone, Breast, T Cells

Publications for Ige Responsiveness, Atopic

Articles related to Ige Responsiveness, Atopic:

(show top 50) (show all 323)
# Title Authors Year
1
Atopy Associated With Positive Patch Test and Possible Allergic Contact Dermatitis. ( 29457485 )
2018
2
African biogeographical ancestry, atopic and non-atopic asthma and atopy: A study in Latin American children. ( 30548437 )
2018
3
Trends in the Prevalence of Childhood Asthma in Seoul Metropolitan City, Korea: The Seoul Atopy ∙ Asthma-friendly School Project. ( 30514057 )
2018
4
Dietary and Plasma Polyunsaturated Fatty Acids Are Inversely Associated with Asthma and Atopy in Early Childhood. ( 30145365 )
2018
5
Atopic dermatitis in US adults: Epidemiology, association with marital status, and atopy. ( 30036584 )
2018
6
Neither self-reported atopy nor IgE-mediated allergy are linked to gastrointestinal symptoms in patients with irritable bowel syndrome. ( 29856100 )
2018
7
Is the Atopy Patch Test Reliable in the Evaluation of Food Allergy-Related Atopic Dermatitis? ( 29332097 )
2018
8
Associations of atopy and asthma during aging of an adult population over a 20-year follow-up. ( 28976229 )
2018
9
Presence of atopy increases the risk of asthma relapse. ( 29021189 )
2018
10
Atopy Is Associated with Age at Asthma Onset in Elderly Patients. ( 29175370 )
2018
11
The Increasing Burden of Atopy and Allergy after Solid Organ Transplantation in Children. ( 29398055 )
2018
12
Benralizumab efficacy by atopy status and serum immunoglobulin E for patients with severe, uncontrolled asthma. ( 29409951 )
2018
13
What can we learn about predictors of atopy from birth cohorts and cord blood biomarkers? ( 29413337 )
2018
14
Atopy and related clinical symptoms among Swiss medical students from 2007 to 2015. ( 29434645 )
2018
15
The nasal microbiome in patients with chronic rhinosinusitis: Analyzing the effects of atopy and bacterial functional pathways in 111 patients. ( 29452201 )
2018
16
Galacto-Oligosaccharide/Polidextrose Enriched Formula Protects against Respiratory Infections in Infants at High Risk of Atopy: A Randomized Clinical Trial. ( 29494489 )
2018
17
IL-4RA gene expression in PBMC with regard to place of living and atopy status. ( 29521059 )
2018
18
Patch testing in gastrointestinal diseases - a systematic review of the patch test and atopy patch test. ( 29524260 )
2018
19
Impact of atopy on risk of glioma: a Mendelian randomisation study. ( 29540232 )
2018
20
The association between endotoxin in house dust with atopy and exercise-induced bronchospasm in children with asthma. ( 29554621 )
2018
21
Interactions of the immune and sensory nervous systems in atopy. ( 29637705 )
2018
22
Local Atopy in Childhood Adenotonsillar Hypertrophy. ( 29649882 )
2018
23
Residential proximity to livestock farms is associated with a lower prevalence of atopy. ( 29712724 )
2018
24
Association of a four-locus gene model including IL13, IL4, FCER1B, and ADRB2 with the Asthma Predictive Index and atopy in Chinese Han children. ( 29761786 )
2018
25
The relationship between atopy and neurological manifestations in HTLV-1 infection. ( 29768555 )
2018
26
Association of ST2 polymorphisms with atopy, asthma, and leukemia. ( 29787780 )
2018
27
Histone modifications and their role in epigenetics of atopy and allergic diseases. ( 29796022 )
2018
28
High burden of atopy in immigrant families in substandard apartments in Sweden - on the contribution of bad housing to poor health in vulnerable populations. ( 29796150 )
2018
29
Allergy and atopy from infancy to adulthood: Messages from the German birth cohort MAS. ( 29803707 )
2018
30
AQUA© Questionnaire as prediction tool for atopy in young elite athletes. ( 29908073 )
2018
31
The impact of fetal umbilical artery Doppler pulsatility index on childhood respiratory function and atopy: a prospective case-control study. ( 29996681 )
2018
32
Polymorphisms in the DAD1 and OXA1L genes are associated with asthma and atopy in a South American population. ( 30032071 )
2018
33
Atopy patch test. ( 30058560 )
2018
34
ABO histo-blood group and risk of respiratory atopy in children: a review of published evidence. ( 30102298 )
2018
35
Prevalence of Atopy following Mass Drug Administration with Albendazole: A Study in School Children on Flores Island, Indonesia. ( 30130756 )
2018
36
Atopy-Dependent and Independent Immune Responses in the Heightened Severity of Atopics to Respiratory Viral Infections: Rat Model Studies. ( 30150981 )
2018
37
Breast-feeding and delivery mode modify the association between maternal atopy and childhood allergic outcomes. ( 30170122 )
2018
38
What is new in HIES? Recent insights from the interface of primary immune deficiency and atopy. ( 30188342 )
2018
39
Allergic Diseases and Atopy Among Schoolchildren in Eastern Croatia. ( 30256014 )
2018
40
Brazilian experience with atopy patch tests for Dermatophagoides pteronyssinus, Dermatophagoides farinae and Blomia tropicalis. ( 30386454 )
2018
41
High levels of butyrate and propionate in early life are associated with protection against atopy. ( 30390309 )
2018
42
Cord-serum per- and poly-fluoroalkyl substances and atopy and eczema at 12-months. ( 30428139 )
2018
43
Longitudinal association of adiposity with wheezing and atopy at 22 years: the 1993 Birth Cohort, Pelotas, Brazil. ( 30555245 )
2018
44
Relationship between diet, atopy, family history, and premature hair graying. ( 30556257 )
2018
45
Otitis media with effusion and atopy: is there a causal relationship? ( 29158869 )
2017
46
Childhood atopy and mental health: a prospective, longitudinal investigation. ( 27762174 )
2017
47
Vitamin D and Atopy. ( 28454657 )
2017
48
Atopy in children with juvenile systemic lupus erythematosus is associated with severe disease. ( 28545118 )
2017
49
Atopy in people aged 40 years and over: Relation to airflow limitation. ( 28972658 )
2017
50
Atopy as a Modifier of the Relationships Between Endotoxin Exposure and Symptoms Among Laboratory Animal Workers. ( 29028247 )
2017

Variations for Ige Responsiveness, Atopic

ClinVar genetic disease variations for Ige Responsiveness, Atopic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HAVCR1 HAVCR1, 6-AA INS insertion Affects
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
4 IL21R IL21R, -83T-C single nucleotide variant Pathogenic

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 44)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.97 CD14 IFNG IGHE IL10 IL13 IL4
2
Show member pathways
13.63 CD14 IFNG IL10 IL13 IL21R IL4
3
Show member pathways
13.49 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
12.85 IFNG IL10 IL13 IL4 IL4R IL5
8 12.82 IFNG IL13 IL4 IL4R IL5 STAT6
9
Show member pathways
12.74 IL21R IL4 IL4R IL9 STAT6
10
Show member pathways
12.61 IFNG IGHE IL10 IL4 IL4R MS4A2
11
Show member pathways
12.57 IFNG IL10 IL13 IL21R IL4 IL4R
12
Show member pathways
12.56 IGHE IL13 IL4 IL5 MS4A2
13
Show member pathways
12.52 CD14 IFNG IL10 STAT6
14 12.5 IFNG IL10 IL4 STAT6
15
Show member pathways
12.42 IFNG IL10 IL4 IL5 IL9
16
Show member pathways
12.36 IGHE IL4 IL4R STAT6
17
Show member pathways
12.29 IFNG IL13 IL4 IL5
18
Show member pathways
12.24 IFNG IL10 IL13 IL4 IL5 IL9
19
Show member pathways
12.17 IFNG IL10 IL13 IL21R IL4 IL4R
20
Show member pathways
12.05 IFNG IL10 IL13 IL4 IL4R IL5
21
Show member pathways
12.02 CD14 IFNG IL13 IL4
22 12.01 IGHE IL10 IL13 IL4 IL4R STAT6
23 11.99 CD14 IFNG IL10 IL4 IL5
24
Show member pathways
11.98 IFNG IL10 IL21R
25
Show member pathways
11.92 IFNG IL4 STAT6
26 11.89 CD14 IL4 IL4R IL5
27 11.88 IFNG IL10 IL21R IL4R STAT6
28 11.84 CD14 IFNG IL10
29 11.81 IFNG IL13 IL4 IL5
30 11.74 IFNG IL10 IL13 IL4
31
Show member pathways
11.73 IFNG IL4 IL5
32 11.71 CD14 IFNG IL10
33 11.7 IFNG IL10 IL13 IL4 IL5 IL9
34 11.63 IL13 IL4 IL5
35 11.55 IL10 IL21R IL4R
36 11.53 IGHE IL10 IL4 IL4R IL5 STAT6
37 11.5 IL10 IL13 IL4
38 11.33 IFNG IL4 IL4R IL5
39 11.31 IFNG IL13 IL4 IL5 IL9
40 11.23 IFNG IL10 IL13 IL4 IL5
41 11.2 IL10 IL13 IL4 IL5 IL9
42 10.98 IL10 IL13 IL4 IL5 IL9
43 10.89 IFNG IL10 IL13 IL4 IL4R IL5
44 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 space GO:0005615 9.65 CD14 IFNG IL10 IL13 IL4 IL4R
2 external side of plasma membrane GO:0009897 9.46 CD14 IGHE IL13 MS4A2
3 extracellular region GO:0005576 9.4 CD14 IFNG IGHE IL10 IL13 IL4

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.88 ADRB2 CD14 IFNG MS4A2
2 regulation of signaling receptor activity GO:0010469 9.85 IFNG IL10 IL13 IL4 IL5 IL9
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.73 IFNG IL13 IL4
4 inflammatory response GO:0006954 9.73 CD14 IL10 IL13 IL5 IL9 MS4A2
5 positive regulation of B cell proliferation GO:0030890 9.65 IL13 IL4 IL5
6 defense response to protozoan GO:0042832 9.59 IL10 IL4R
7 response to molecule of bacterial origin GO:0002237 9.58 CD14 IL10
8 negative regulation of endothelial cell apoptotic process GO:2000352 9.58 IL10 IL13 IL4
9 positive regulation of mast cell degranulation GO:0043306 9.57 IL13 IL4R
10 positive regulation of immunoglobulin production GO:0002639 9.55 IL13 IL4R
11 positive regulation of cold-induced thermogenesis GO:0120162 9.55 ADRB2 IL13 IL4 IL4R STAT6
12 positive regulation of MHC class II biosynthetic process GO:0045348 9.54 IL10 IL4
13 interleukin-4-mediated signaling pathway GO:0035771 9.52 IL4R STAT6
14 regulation of isotype switching GO:0045191 9.51 IL10 IL4
15 positive regulation of macrophage activation GO:0043032 9.5 IL10 IL13 IL4R
16 cytokine-mediated signaling pathway GO:0019221 9.5 IGHE IL10 IL13 IL4 IL4R IL5
17 type 2 immune response GO:0042092 9.49 IL10 IL4
18 negative regulation of complement-dependent cytotoxicity GO:1903660 9.46 IL13 IL4
19 positive regulation of isotype switching to IgE isotypes GO:0048295 9.43 IL4 STAT6
20 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 9.46 IL10 IL4 IL5 IL9
2 cytokine receptor binding GO:0005126 9.13 IL13 IL4 IL9
3 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
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