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ANPAI
MCID: AST052
MIFTS: 34

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 58 30 6 41 74
Asthma and Nasal Polyps 58 76 13 6
Asthma, Aspirin-Induced, Susceptibility to 58 6
Asthma, Aspirin-Induced 58 45
Asa Triad 58 76
Asthma, with Nasal Polyps and Aspirin Intolerance 76
Asthma with Nasal Polyps and Aspirin Intolerance 38
Nasal Polyps Asthma and Aspirin Sensitivity 76
Aspirin-Intolerant Asthma 76
Asthma Aspirin-Induced 76
Samter Triad 76
Anpai 76
Aia 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
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)
ICD10: 34


External Ids:

OMIM 58 208550
KEGG 38 H01191
MeSH 45 D055963
ICD10 34 J45.9
UMLS 74 C1859648
Sources

Summaries for Asthma, Nasal Polyps, and Aspirin Intolerance

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UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Asthma, Nasal Polyps, and Aspirin Intolerance, also known as asthma and nasal polyps, is related to asthma and leukotriene c4 synthase deficiency. An important gene associated with Asthma, Nasal Polyps, and Aspirin Intolerance is PTGER2 (Prostaglandin E Receptor 2), and among its related pathways/superpathways are Pathways in cancer and NF-kappaB Signaling. The drugs Aspirin and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotypes are asthma and nasal polyposis

Description 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 13)
# Related Disease Score Top Affiliating Genes
1 asthma 29.9 IL3 TBX21
2 leukotriene c4 synthase deficiency 10.2
3 urticaria 10.1
4 diabetes mellitus 10.1
5 autoimmune vasculitis 10.1
6 acute cystitis 10.1
7 vasculitis 10.1
8 intrinsic asthma 10.0
9 allergic rhinitis 10.0
10 sinusitis 10.0
11 rhinitis 10.0
12 allergic asthma 10.0
13 aplastic anemia 9.6 IL3 TBX21

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:

33
# Description HPO Frequency HPO Source Accession
1 asthma 33 HP:0002099
2 nasal polyposis 33 HP:0100582
3 aspirin-induced asthma 33 HP:0012042

Symptoms via clinical synopsis from OMIM:

58
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:

27 (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-177 9.4 PTGER2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.4 TBX21
6 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.4 PTGER2
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
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 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Not Applicable 50-78-2 2244
2
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
3
Salicylic acid Approved, Investigational, Vet_approved Not Applicable 69-72-7 338
4 Analgesics Not Applicable
5 Antipyretics Not Applicable
6 Ophthalmic Solutions Not Applicable
7 Peripheral Nervous System Agents Not Applicable
8 Anti-Inflammatory Agents Not Applicable
9 Antirheumatic Agents Not Applicable
10 Fibrinolytic Agents Not Applicable
11 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
12 Analgesics, Non-Narcotic Not Applicable
13 Platelet Aggregation Inhibitors Not Applicable
14 Cyclooxygenase Inhibitors Not Applicable
15 Omega 3 Fatty Acid Not Applicable
16 Dermatologic Agents Not Applicable
17 Anti-Infective Agents Not Applicable
18 Antifungal Agents Not Applicable
19 Keratolytic Agents Not Applicable
20 Salicylates Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Challenge Test for Acetylsalicylic Acid Hypersensitivity Unknown status NCT01681615 Not Applicable Acetylsalicylate;Isotonic NaCl
2 High Omega-3/Low Omega-6 Treatment Diet for Aspirin-exacerbated Respiratory Disease (AERD) Completed NCT02064738 Not Applicable
3 Effect of Dietary Salicylate in Aspirin Exacerbated Respiratory Disease Completed NCT01778465 Not Applicable
4 The Effect of Intra-abdominal Pressure Not yet recruiting NCT03931759 Not Applicable

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 30 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:

42
Testes
Sources

Publications for Asthma, Nasal Polyps, and Aspirin Intolerance

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

(show all 16)
# Title Authors Year
1
Omalizumab's effectiveness in severe allergic asthma and nasal polyps: a real-life study. ( 30931917 )
2019
2
Biologic Therapy in a Patient with Asthma and Nasal Polyps. ( 31076065 )
2019
3
A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis. ( 30643255 )
2019
4
Age-related increased prevalence of asthma and nasal polyps in chronic rhinosinusitis and its association with altered IL-6 trans-signaling. ( 26266960 )
2015
5
Relationships of indoleamine 2,3-dioxygenase activity and cofactors with asthma and nasal polyps. ( 24717869 )
2014
6
Quality of life improvement from sinus surgery in chronic rhinosinusitis patients with asthma and nasal polyps. ( 25256422 )
2014
7
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. ( 21558275 )
2011
8
A near null variant of 12/15-LOX encoded by a novel SNP in ALOX15 and the risk of coronary artery disease. ( 17959182 )
2008
9
Functional promoter polymorphism in the TBX21 gene associated with aspirin-induced asthma. ( 15806396 )
2005
10
Polymorphisms in the prostaglandin E2 receptor subtype 2 gene confer susceptibility to aspirin-intolerant asthma: a candidate gene approach. ( 15496426 )
2004
11
Aspirin treatment of patients with aspirin intolerance, asthma, and nasal polyps. ( 11775396 )
2001
12
Increased in vitro cysteinyl leukotriene release from blood leukocytes in patients with asthma, nasal polyps, and aspirin intolerance. ( 8863928 )
1996
13
Sinusitis in adults and its relation to allergic rhinitis, asthma, and nasal polyps. ( 3057048 )
1988
14
Aspirin-induced asthma and nasal polyps. ( 3461681 )
1986
15
Histamine, asthma, and nasal polyps. ( 6123907 )
1982
16
Aspirin shock associated with asthma and nasal polyps. ( 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 Assembly Location
1 TBX21 TBX21, -1993T-C single nucleotide variant Pathogenic,risk factor
2 PTGER2 PTGER2, G-A POLYMORPHISM single nucleotide variant risk factor
3 ALOX15 NM_001140.4(ALOX15): c.1679C> T (p.Thr560Met) single nucleotide variant Benign rs34210653 GRCh38 Chromosome 17, 4632019: 4632019
4 ALOX15 NM_001140.4(ALOX15): c.1679C> T (p.Thr560Met) single nucleotide variant Benign rs34210653 GRCh37 Chromosome 17, 4535314: 4535314
5 TBX21 NM_013351.2(TBX21): c.83G> A (p.Gly28Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 45810903: 45810903
6 TBX21 NM_013351.2(TBX21): c.83G> A (p.Gly28Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 47733537: 47733537
7 TBX21 NM_013351.2(TBX21): c.1272G> T (p.Glu424Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 45822396: 45822396
8 TBX21 NM_013351.2(TBX21): c.1272G> T (p.Glu424Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 47745030: 47745030
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.
Sources

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
Pathways in cancer 38
11.88 IL3 PTGER2
2
NF-kappaB Signaling 4
11.47 IL3 TBX21
3
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 10.5 IL3 TBX21
Sources

GO Terms for Asthma, Nasal Polyps, and Aspirin Intolerance

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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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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