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ANPAI
MCID: AST052
MIFTS: 32

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 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 15)
# Related Disease Score Top Affiliating Genes
1 asthma 29.9 IL3 TBX21
2 leukotriene c4 synthase deficiency 10.2
3 urticaria 10.1
4 dowling-degos disease 1 10.0
5 malignant atrophic papulosis 10.0
6 diabetes mellitus 10.0
7 autoimmune vasculitis 10.0
8 dowling-degos disease 10.0
9 acute cystitis 10.0
10 vasculitis 10.0
11 allergic rhinitis 10.0
12 sinusitis 10.0
13 rhinitis 10.0
14 intrinsic asthma 10.0
15 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
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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:

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 Peripheral Nervous System Agents Not Applicable
5 Anti-Inflammatory Agents Not Applicable
6 Fibrinolytic Agents Not Applicable
7 Cyclooxygenase Inhibitors Not Applicable
8 Ophthalmic Solutions Not Applicable
9 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
10 Antipyretics Not Applicable
11 Analgesics Not Applicable
12 Platelet Aggregation Inhibitors Not Applicable
13 Antirheumatic Agents Not Applicable
14 Analgesics, Non-Narcotic Not Applicable
15 Omega 3 Fatty Acid Not Applicable
16 Anti-Infective Agents Not Applicable
17 Salicylates Not Applicable
18 Keratolytic Agents Not Applicable
19 Antifungal Agents Not Applicable
20 Dermatologic Agents 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

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:

# Title Authors Year
1
Increased in vitro cysteinyl leukotriene release from blood leukocytes in patients with asthma, nasal polyps, and aspirin intolerance. ( 8863928 )
1996
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
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
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

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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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