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ANPAI
MCID: AST052
MIFTS: 39

Asthma, Nasal Polyps, and Aspirin Intolerance (ANPAI)

Categories: Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Asthma, Nasal Polyps, and Aspirin Intolerance

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MalaCards integrated aliases for Asthma, Nasal Polyps, and Aspirin Intolerance:

Name: Asthma, Nasal Polyps, and Aspirin Intolerance 57 29 6 40 72
Asthma and Nasal Polyps 57 74 13 6
Asthma, Aspirin-Induced, Susceptibility to 57 6
Asthma, Aspirin-Induced 57 44
Asa Triad 57 74
Asthma, with Nasal Polyps and Aspirin Intolerance 74
Asthma with Nasal Polyps and Aspirin Intolerance 37
Nasal Polyps Asthma and Aspirin Sensitivity 74
Aspirin-Intolerant Asthma 74
Asthma Aspirin-Induced 74
Samter Triad 74
Anpai 74
Aia 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
asthma, nasal polyps, and aspirin intolerance:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 57 208550
KEGG 37 H01191
MeSH 44 D055963
UMLS 72 C1859648
Sources

Summaries for Asthma, Nasal Polyps, and Aspirin Intolerance

About this section
KEGG : 37
Asthma is a phenotypically heterogeneous disorder with many etiologic factors and clinical characteristics. In some patients with asthma, aspirin and all nonsteroidal anti-inflammatory drugs (NSAIDs) trigger asthmatic attacks. This clinical syndrome is characterized by eosinophilic inflammation of nasal and bronchial tissue, often associated with nasal polyps. It has been reported that genetic variations in TBX21 are associated with susceptibility to asthma with nasal polyps and aspirin intolerance.

MalaCards based summary : Asthma, Nasal Polyps, and Aspirin Intolerance, also known as asthma and nasal polyps, is related to allergic hypersensitivity disease and proteasome-associated autoinflammatory syndrome 1. An important gene associated with Asthma, Nasal Polyps, and Aspirin Intolerance is TBX21 (T-Box Transcription Factor 21), and among its related pathways/superpathways are NF-kappaB Signaling and Calcineurin-regulated NFAT-dependent transcription in lymphocytes. The drugs Aspirin and Ifetroban have been mentioned in the context of this disorder. Affiliated tissues include testes and skin, and related phenotypes are asthma and nasal polyposis

UniProtKB/Swiss-Prot : 74 Asthma, with nasal polyps and aspirin intolerance: A condition consisting of asthma, aspirin sensitivity and nasal polyposis. Nasal polyposis is due to chronic inflammation of the paranasal sinus mucosa, leading to protrusion of edematous polyps into the nasal cavities.

More information from OMIM: 208550
Sources

Related Diseases for Asthma, Nasal Polyps, and Aspirin Intolerance

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Diseases related to Asthma, Nasal Polyps, and Aspirin Intolerance via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 allergic hypersensitivity disease 10.4
2 proteasome-associated autoinflammatory syndrome 1 10.4
3 hepatic coma 10.3
4 hepatic encephalopathy 10.3
5 encephalopathy 10.3
6 asthma 10.2
7 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.1
8 rhinitis 10.1
9 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
10 autoimmune vasculitis 10.1
11 acute cystitis 10.1
12 synovitis 10.1
13 ulcerative colitis 10.1
14 vasculitis 10.1
15 pouchitis 10.1
16 dermatitis, atopic 10.1
17 toxic shock syndrome 10.1
18 staphylococcal toxic shock syndrome 10.1
19 staphylococcal scarlet fever 10.1
20 urticaria 10.0
21 allergic asthma 10.0
22 ige responsiveness, atopic 10.0
23 alpha-1-antitrypsin deficiency 10.0
24 intrinsic asthma 10.0
25 hypereosinophilic syndrome 10.0
26 allergic rhinitis 10.0
27 aplastic anemia 9.2 TBX21 IL3

Graphical network of the top 20 diseases related to Asthma, Nasal Polyps, and Aspirin Intolerance:



Diseases related to Asthma, Nasal Polyps, and Aspirin Intolerance
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Symptoms & Phenotypes for Asthma, Nasal Polyps, and Aspirin Intolerance

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Human phenotypes related to Asthma, Nasal Polyps, and Aspirin Intolerance:

32
# Description HPO Frequency HPO Source Accession
1 asthma 32 HP:0002099
2 nasal polyposis 32 HP:0100582
3 aspirin-induced asthma 32 HP:0012042

Symptoms via clinical synopsis from OMIM:

57
Nose:
polyps

Immunologic:
aspirin intolerance

Pulmonary:
bronchial asthma

Clinical features from OMIM:

208550

MGI Mouse Phenotypes related to Asthma, Nasal Polyps, and Aspirin Intolerance:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.8 ALOX15 PTGER2 TBX21
Sources

Drugs & Therapeutics for Asthma, Nasal Polyps, and Aspirin Intolerance

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Drugs for Asthma, Nasal Polyps, and Aspirin Intolerance (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
2 Ifetroban Investigational Phase 2 143443-90-7
3 Prasugrel hydrochloride Phase 2 389574-19-0
4 Analgesics Phase 2
5 Analgesics, Non-Narcotic Phase 2
6 Cyclooxygenase Inhibitors Phase 2
7 Fibrinolytic Agents Phase 2
8 Anti-Inflammatory Agents, Non-Steroidal Phase 2
9 Peripheral Nervous System Agents Phase 2
10 Platelet Aggregation Inhibitors Phase 2
11 Anti-Inflammatory Agents Phase 2
12 Antipyretics Phase 2
13 Antirheumatic Agents Phase 2
14
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338
15
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
16
Acetaminophen Approved 103-90-2 1983
17
Verapamil Approved 52-53-9 2520
18
Calcium Approved, Nutraceutical 7440-70-2 271
19 Ophthalmic Solutions
20 Omega 3 Fatty Acid
21 Salicylates
22 Antifungal Agents
23 Anti-Infective Agents
24 Keratolytic Agents
25 Dermatologic Agents
26 Hormones
27 Adjuvants, Immunologic
28 Anti-Arrhythmia Agents
29 Vasodilator Agents
30 calcium channel blockers
31 Calcium, Dietary

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 The Effect of Aspirin Desensitization on Patients With Aspirin-exacerbated Respiratory Diseases Completed NCT01867281 Phase 4 aspirin
2 Therapeutic Control of Aspirin-Exacerbated Respiratory Disease (Aspirin) Completed NCT01597375 Phase 2 Placebo Oral Tablet;Prasugrel Oral Tablet
3 A Phase 2 Multicenter, Double-blind, Randomized, Placebo-Controlled Trial to Evaluate Oral Ifetroban in Subjects With Symptomatic Aspirin Exacerbated Respiratory Disease (AERD) Recruiting NCT03028350 Phase 2 Ifetroban Oral Capsule;Placebo Oral Capsule
4 Therapeutic Control of Aspirin-Exacerbated Respiratory Disease Recruiting NCT03326063 Phase 2 Ifetroban;Placebo
5 Challenge Test for Acetylsalicylic Acid Hypersensitivity Unknown status NCT01681615 Acetylsalicylate;Isotonic NaCl
6 A Pilot Study of the Effectiveness of a High Omega-3/Low Omega-6 Treatment Diet for Treating Aspirin-exacerbated Respiratory Disease Completed NCT02064738
7 Diagnosis of Aspirin Hypersensitivity in Aspirin Exacerbated Respiratory Disease Using a Safe, Low Dose Aspirin Challenge Completed NCT01320072
8 Effect of Low Dietary Salicylate on Biochemical Markers of Aspirin Exacerbated Respiratory Disease Completed NCT01778465
9 Characteristics of Patients Diagnosed With NSAID Sensitivity in Thailand Recruiting NCT03849625 aspirin, NSAIDs, paracetamol
10 Role of PDG2 in the Aspirin-Induced Reactions and in the Treatment of Aspirin-Exacerbated Respiratory Disease Recruiting NCT02824523 aspirin
11 Randomized Double Blind Placebo Controlled Trial of Verapamil in Chronic Rhinosinusitis Terminated NCT02454608 Verapamil HCl

Search NIH Clinical Center for Asthma, Nasal Polyps, and Aspirin Intolerance

Cochrane evidence based reviews: asthma, aspirin-induced

Sources

Genetic Tests for Asthma, Nasal Polyps, and Aspirin Intolerance

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Genetic tests related to Asthma, Nasal Polyps, and Aspirin Intolerance:

# Genetic test Affiliating Genes
1 Asthma, Nasal Polyps, and Aspirin Intolerance 29 PTGER2 TBX21
Sources

Anatomical Context for Asthma, Nasal Polyps, and Aspirin Intolerance

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MalaCards organs/tissues related to Asthma, Nasal Polyps, and Aspirin Intolerance:

41
Testes, Skin
Sources

Publications for Asthma, Nasal Polyps, and Aspirin Intolerance

About this section

Articles related to Asthma, Nasal Polyps, and Aspirin Intolerance:

(show all 48)
# Title Authors PMID Year
1
Functional promoter polymorphism in the TBX21 gene associated with aspirin-induced asthma. 8 71
15806396 2005
2
Polymorphisms in the prostaglandin E2 receptor subtype 2 gene confer susceptibility to aspirin-intolerant asthma: a candidate gene approach. 8 71
15496426 2004
3
Familial occurrence of asthma, nasal polyps and aspirin intolerance. 38 8
4682309 1973
4
A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis. 71
30643255 2019
5
Molecular basis for the reduced catalytic activity of the naturally occurring T560M mutant of human 12/15-lipoxygenase that has been implicated in coronary artery disease. 71
21558275 2011
6
A near null variant of 12/15-LOX encoded by a novel SNP in ALOX15 and the risk of coronary artery disease. 71
17959182 2008
7
Leukotriene-receptor expression on nasal mucosal inflammatory cells in aspirin-sensitive rhinosinusitis. 8
12421891 2002
8
Leukotriene receptors and aspirin sensitivity. 8
12421897 2002
9
Overexpression of leukotriene C4 synthase in bronchial biopsies from patients with aspirin-intolerant asthma. 8
9466979 1998
10
Leukotriene C4 synthase promoter polymorphism and risk of aspirin-induced asthma. 8
9393345 1997
11
Aspirin and concomitant idiosyncrasies in adult asthmatic patients. 8
512268 1979
12
Aspirin-induced bronchial asthma in sisters. 8
5155528 1971
13
Biologic Therapy in a Patient with Asthma and Nasal Polyps. 38
31076065 2019
14
Omalizumab's effectiveness in severe allergic asthma and nasal polyps: a real-life study. 38
30931917 2019
15
Rapid and Sensitive Detection of Staphylococcal Enterotoxin B by Recombinant Nanobody Using Phage Display Technology. 38
29984392 2019
16
Role of allergen-specific T-follicular helper cells in immunotherapy. 38
30124489 2018
17
Samter's Triad: State of the Art. 38
29642688 2018
18
Longitudinal improvement and stability of olfactory function in the evaluation of surgical management for chronic rhinosinusitis. 38
27218483 2016
19
Non-Steroidal Anti-Inflammatory Drugs and Aspirin Therapy for the Treatment of Acute and Recurrent Idiopathic Pericarditis. 38
27023565 2016
20
Age-related increased prevalence of asthma and nasal polyps in chronic rhinosinusitis and its association with altered IL-6 trans-signaling. 38
26266960 2015
21
Churg-Strauss syndrome: a new endotype of severe asthma? Results of 14 Turkish patients. 38
24761830 2015
22
Quality of life improvement from sinus surgery in chronic rhinosinusitis patients with asthma and nasal polyps. 38
25256422 2014
23
Relationships of indoleamine 2,3-dioxygenase activity and cofactors with asthma and nasal polyps. 38
24717869 2014
24
Bacterial Toxins-Staphylococcal Enterotoxin B. 38
26184960 2013
25
Two patterns of changes in nasal nitric oxide after lysine aspirin nasal challenge in patients with aspirin-exacerbated respiratory disease. 38
23050514 2012
26
Anti-inflammatory properties of montelukast, a leukotriene receptor antagonist in patients with asthma and nasal polyposis. 38
21370724 2011
27
Ascites as the presenting symptom in a patient with Churg-Strauss syndrome. 38
20593056 2010
28
Matrix metalloproteases in vernal keratoconjunctivitis, nasal polyps and allergic asthma. 38
17517101 2007
29
Do patients with skin allergies have higher levels of anxiety than patients with allergic respiratory diseases? Results of a large-scale cross-sectional study in a French population. 38
16704645 2006
30
[The role of eotaxins in bronchial asthma and nasal polyposis]. 38
16711548 2006
31
Adhesion molecules and their ligands in nasal polyps of aspirin-hypersensitive patients. 38
16440541 2006
32
[Antieosinophil action of IL-12 in human polyp culture]. 38
15757285 2004
33
Leukotriene modifiers to prevent aspirin-provoked respiratory reactions in asthmatics. 38
12196067 2002
34
Aspirin treatment of patients with aspirin intolerance, asthma, and nasal polyps. 38
11775396 2001
35
Means of increasing sensitivity of an in vitro diagnostic test for aspirin intolerance. 38
10520062 1999
36
The clinical relationship of nasal polyps to asthma. 38
8922143 1996
37
Increased in vitro cysteinyl leukotriene release from blood leukocytes in patients with asthma, nasal polyps, and aspirin intolerance. 38
8863928 1996
38
Asthma caused by topical application of ketorolac. 38
8643243 1996
39
[Current aspects of analgetics-induced asthma]. 38
1439416 1992
40
Desensitization to aspirin in aspirin-sensitive patients with rhino-sinusitis and asthma: a review. 38
2661852 1989
41
Sinusitis in adults and its relation to allergic rhinitis, asthma, and nasal polyps. 38
3057048 1988
42
Adverse reaction of acetaminophen as an alternative analgesic in A.A.S. Triad. 38
3147588 1988
43
Aspirin sensitivity and allergy. 38
3066409 1988
44
Sinusitis and asthma. 38
3306945 1987
45
Aspirin-induced asthma and nasal polyps. 38
3461681 1986
46
Histamine, asthma, and nasal polyps. 38
6123907 1982
47
Analgesic sensitivity in children with asthma. 38
103067 1978
48
Aspirin shock associated with asthma and nasal polyps. 38
5121565 1971
Sources

Variations for Asthma, Nasal Polyps, and Aspirin Intolerance

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ClinVar genetic disease variations for Asthma, Nasal Polyps, and Aspirin Intolerance:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TBX21 TBX21, -1993T-C single nucleotide variant Pathogenic,risk factor
2 PTGER2 PTGER2, G-A POLYMORPHISM single nucleotide variant risk factor
3 TBX21 NM_013351.2(TBX21): c.83G> A (p.Gly28Asp) single nucleotide variant Uncertain significance 17:45810903-45810903 17:47733537-47733537
4 TBX21 NM_013351.2(TBX21): c.1272G> T (p.Glu424Asp) single nucleotide variant Uncertain significance 17:45822396-45822396 17:47745030-47745030
5 ALOX15 NM_001140.4(ALOX15): c.1679C> T (p.Thr560Met) single nucleotide variant Benign rs34210653 17:4535314-4535314 17:4632019-4632019
Sources

Expression for Asthma, Nasal Polyps, and Aspirin Intolerance

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Search GEO for disease gene expression data for Asthma, Nasal Polyps, and Aspirin Intolerance.
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Pathways for Asthma, Nasal Polyps, and Aspirin Intolerance

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Pathways related to Asthma, Nasal Polyps, and Aspirin Intolerance according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
NF-kappaB Signaling 4
11.47 TBX21 IL3
2
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 10.5 TBX21 IL3
Sources

GO Terms for Asthma, Nasal Polyps, and Aspirin Intolerance

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Biological processes related to Asthma, Nasal Polyps, and Aspirin Intolerance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 8.96 PTGER2 ALOX15
2 cytokine-mediated signaling pathway GO:0019221 8.62 IL3 ALOX15
Sources

Sources for Asthma, Nasal Polyps, and Aspirin Intolerance

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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