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ANPAI
MCID: AST052
MIFTS: 38

Asthma, Nasal Polyps, and Aspirin Intolerance (ANPAI)

Categories: Genetic diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

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 56 12 29 6 39 71
Asthma and Nasal Polyps 56 73 13 6
Asa Triad 56 12 73
Asthma, Aspirin-Induced, Susceptibility to 56 6
Asthma, Aspirin-Induced 56 43
Asthma, with Nasal Polyps and Aspirin Intolerance 73
Asthma with Nasal Polyps and Aspirin Intolerance 36
Nasal Polyps Asthma and Aspirin Sensitivity 73
Aspirin-Intolerant Asthma 73
Asthma Aspirin-Induced 73
Samter Triad 73
Anpai 73
Aia 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
asthma, nasal polyps, and aspirin intolerance:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0111579
OMIM 56 208550
KEGG 36 H01191
MeSH 43 D055963
UMLS 71 C1859648
Sources

Summaries for Asthma, Nasal Polyps, and Aspirin Intolerance

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KEGG : 36 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 dermatitis, atopic and asthma. 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

Disease Ontology : 12 A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps.

UniProtKB/Swiss-Prot : 73 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 29)
# Related Disease Score Top Affiliating Genes
1 dermatitis, atopic 29.2 TBX21 IL3
2 asthma 28.9 TBX21 PTGER2 IL3 ALOX15
3 allergic hypersensitivity disease 10.4
4 proteasome-associated autoinflammatory syndrome 1 10.4
5 hepatic coma 10.3
6 hepatic encephalopathy 10.3
7 encephalopathy 10.3
8 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.1
9 rhinitis 10.1
10 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
11 autoimmune vasculitis 10.1
12 acute cystitis 10.1
13 synovitis 10.1
14 ulcerative colitis 10.1
15 vasculitis 10.1
16 pouchitis 10.1
17 toxic shock syndrome 10.1
18 staphylococcal toxic shock syndrome 10.1
19 staphylococcal scarlet fever 10.1
20 allergic rhinitis 10.0
21 urticaria 10.0
22 allergic asthma 10.0
23 ige responsiveness, atopic 10.0
24 alpha-1-antitrypsin deficiency 10.0
25 intrinsic asthma 10.0
26 hypereosinophilic syndrome 10.0
27 chronic rhinitis 10.0
28 respiratory allergy 9.5 TBX21 IL3
29 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
Sources

Symptoms & Phenotypes for Asthma, Nasal Polyps, and Aspirin Intolerance

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

31
# Description HPO Frequency HPO Source Accession
1 asthma 31 HP:0002099
2 nasal polyposis 31 HP:0100582
3 aspirin-induced asthma 31 HP:0012042

Symptoms via clinical synopsis from OMIM:

56
Nose:
polyps

Immunologic:
aspirin intolerance

Pulmonary:
bronchial asthma

Clinical features from OMIM:

208550

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.4 TBX21
2 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.4 TBX21
3 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.4 PTGER2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.4 TBX21
5 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.4 PTGER2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.4 TBX21
7 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.4 PTGER2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.4 PTGER2 TBX21
9 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.4 TBX21
10 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.4 PTGER2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.4 TBX21

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

45
# 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 30)
# 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 Fibrinolytic Agents Phase 2
5 Anti-Inflammatory Agents Phase 2
6 Analgesics, Non-Narcotic Phase 2
7 Platelet Aggregation Inhibitors Phase 2
8 Anti-Inflammatory Agents, Non-Steroidal Phase 2
9 Antipyretics Phase 2
10 Cyclooxygenase Inhibitors Phase 2
11 Antirheumatic Agents Phase 2
12 Analgesics Phase 2
13
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338
14
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
15
Acetaminophen Approved 103-90-2 1983
16
Verapamil Approved 52-53-9 2520
17
Calcium Approved, Nutraceutical 7440-70-2 271
18 Ophthalmic Solutions
19 Salicylates
20 Anti-Infective Agents
21 Keratolytic Agents
22 Dermatologic Agents
23 Antifungal Agents
24 Omega 3 Fatty Acid
25 Anti-Arrhythmia Agents
26 Adjuvants, Immunologic
27 Vasodilator Agents
28 Calcium, Dietary
29 calcium channel blockers
30 Hormones

Interventional clinical trials:

(show all 12)
# 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 Effect of Low Dietary Salicylate on Biochemical Markers of Aspirin Exacerbated Respiratory Disease Completed NCT01778465
7 A Pilot Study of the Effectiveness of a High Omega-3/Low Omega-6 Treatment Diet for Treating Aspirin-exacerbated Respiratory Disease Completed NCT02064738
8 Characteristics of Patients Diagnosed With NSAID Sensitivity in Thailand Recruiting NCT03849625 aspirin, NSAIDs, paracetamol
9 Role of PDG2 in the Aspirin-Induced Reactions and in the Treatment of Aspirin-Exacerbated Respiratory Disease Recruiting NCT02824523 aspirin
10 Periostin Levels in Children With Adenoid Hypertrophy Recruiting NCT04152746
11 Diagnosis of Aspirin Hypersensitivity in Aspirin Exacerbated Respiratory Disease Using a Safe, Low Dose Aspirin Challenge Enrolling by invitation NCT01320072
12 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:

40
Testes, Skin
Sources

Publications for Asthma, Nasal Polyps, and Aspirin Intolerance

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

(show all 49)
# Title Authors PMID Year
1
Functional promoter polymorphism in the TBX21 gene associated with aspirin-induced asthma. 56 6
15806396 2005
2
Polymorphisms in the prostaglandin E2 receptor subtype 2 gene confer susceptibility to aspirin-intolerant asthma: a candidate gene approach. 56 6
15496426 2004
3
Familial occurrence of asthma, nasal polyps and aspirin intolerance. 61 56
4682309 1973
4
A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis. 6
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. 6
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. 6
17959182 2008
7
Leukotriene-receptor expression on nasal mucosal inflammatory cells in aspirin-sensitive rhinosinusitis. 56
12421891 2002
8
Leukotriene receptors and aspirin sensitivity. 56
12421897 2002
9
Overexpression of leukotriene C4 synthase in bronchial biopsies from patients with aspirin-intolerant asthma. 56
9466979 1998
10
Leukotriene C4 synthase promoter polymorphism and risk of aspirin-induced asthma. 56
9393345 1997
11
Aspirin and concomitant idiosyncrasies in adult asthmatic patients. 56
512268 1979
12
Aspirin-induced bronchial asthma in sisters. 56
5155528 1971
13
Longitudinal progression of aspirin-exacerbated respiratory disease: analysis of a national insurance claims database. 61
31442000 2019
14
Biologic Therapy in a Patient with Asthma and Nasal Polyps. 61
31076065 2019
15
Omalizumab's effectiveness in severe allergic asthma and nasal polyps: a real-life study. 61
30931917 2019
16
Rapid and Sensitive Detection of Staphylococcal Enterotoxin B by Recombinant Nanobody Using Phage Display Technology. 61
29984392 2019
17
Role of allergen-specific T-follicular helper cells in immunotherapy. 61
30124489 2018
18
Samter's Triad: State of the Art. 61
29642688 2018
19
Longitudinal improvement and stability of olfactory function in the evaluation of surgical management for chronic rhinosinusitis. 61
27218483 2016
20
Non-Steroidal Anti-Inflammatory Drugs and Aspirin Therapy for the Treatment of Acute and Recurrent Idiopathic Pericarditis. 61
27023565 2016
21
Age-related increased prevalence of asthma and nasal polyps in chronic rhinosinusitis and its association with altered IL-6 trans-signaling. 61
26266960 2015
22
Churg-Strauss syndrome: a new endotype of severe asthma? Results of 14 Turkish patients. 61
24761830 2015
23
Quality of life improvement from sinus surgery in chronic rhinosinusitis patients with asthma and nasal polyps. 61
25256422 2014
24
Relationships of indoleamine 2,3-dioxygenase activity and cofactors with asthma and nasal polyps. 61
24717869 2014
25
Bacterial Toxins-Staphylococcal Enterotoxin B. 61
26184960 2013
26
Two patterns of changes in nasal nitric oxide after lysine aspirin nasal challenge in patients with aspirin-exacerbated respiratory disease. 61
23050514 2012
27
Anti-inflammatory properties of montelukast, a leukotriene receptor antagonist in patients with asthma and nasal polyposis. 61
21370724 2011
28
Ascites as the presenting symptom in a patient with Churg-Strauss syndrome. 61
20593056 2010
29
Matrix metalloproteases in vernal keratoconjunctivitis, nasal polyps and allergic asthma. 61
17517101 2007
30
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. 61
16704645 2006
31
[The role of eotaxins in bronchial asthma and nasal polyposis]. 61
16711548 2006
32
Adhesion molecules and their ligands in nasal polyps of aspirin-hypersensitive patients. 61
16440541 2006
33
[Antieosinophil action of IL-12 in human polyp culture]. 61
15757285 2004
34
Leukotriene modifiers to prevent aspirin-provoked respiratory reactions in asthmatics. 61
12196067 2002
35
Aspirin treatment of patients with aspirin intolerance, asthma, and nasal polyps. 61
11775396 2001
36
Means of increasing sensitivity of an in vitro diagnostic test for aspirin intolerance. 61
10520062 1999
37
The clinical relationship of nasal polyps to asthma. 61
8922143 1996
38
Increased in vitro cysteinyl leukotriene release from blood leukocytes in patients with asthma, nasal polyps, and aspirin intolerance. 61
8863928 1996
39
Asthma caused by topical application of ketorolac. 61
8643243 1996
40
[Current aspects of analgetics-induced asthma]. 61
1439416 1992
41
Desensitization to aspirin in aspirin-sensitive patients with rhino-sinusitis and asthma: a review. 61
2661852 1989
42
Sinusitis in adults and its relation to allergic rhinitis, asthma, and nasal polyps. 61
3057048 1988
43
Adverse reaction of acetaminophen as an alternative analgesic in A.A.S. Triad. 61
3147588 1988
44
Aspirin sensitivity and allergy. 61
3066409 1988
45
Sinusitis and asthma. 61
3306945 1987
46
Aspirin-induced asthma and nasal polyps. 61
3461681 1986
47
Histamine, asthma, and nasal polyps. 61
6123907 1982
48
Analgesic sensitivity in children with asthma. 61
103067 1978
49
Aspirin shock associated with asthma and nasal polyps. 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX21 TBX21, -1993T-CSNV Pathogenic,risk factor 5321
2 PTGER2 PTGER2, G-A POLYMORPHISMSNV risk factor 13360
3 TBX21 NM_013351.2(TBX21):c.83G>A (p.Gly28Asp)SNV Uncertain significance 626179 rs1567918419 17:45810903-45810903 17:47733537-47733537
4 TBX21 NM_013351.2(TBX21):c.1272G>T (p.Glu424Asp)SNV Uncertain significance 626180 rs750645061 17:45822396-45822396 17:47745030-47745030
5 ALOX15 NM_001140.4(ALOX15):c.1679C>T (p.Thr560Met)SNV Benign 624559 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 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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