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ANPAI
MCID: AST052
MIFTS: 32

Asthma, Nasal Polyps, and Aspirin Intolerance (ANPAI)

Categories: Genetic diseases, Respiratory diseases
Genes Variations 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 57 29 40 73
Asthma and Nasal Polyps 57 75 13 6
Asthma, Aspirin-Induced, Susceptibility to 57 6
Asthma, Aspirin-Induced 57 44
Asa Triad 57 75
Asthma, with Nasal Polyps and Aspirin Intolerance 75
Asthma with Nasal Polyps and Aspirin Intolerance 37
Nasal Polyps Asthma and Aspirin Sensitivity 75
Aspirin-Intolerant Asthma 75
Asthma Aspirin-Induced 75
Samter Triad 75
Anpai 75
Aia 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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: 33


External Ids:

OMIM 57 208550
MeSH 44 D055963
KEGG 37 H01191
ICD10 33 J45.9
UMLS 73 C1859648
Sources

Summaries for Asthma, Nasal Polyps, and Aspirin Intolerance

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UniProtKB/Swiss-Prot : 75 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 Platelet Aggregation Inhibitors have been mentioned in the context of this disorder. 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 14)
# Related Disease Score Top Affiliating Genes
1 asthma 30.1 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 vasculitis 10.0
10 allergic rhinitis 10.0
11 sinusitis 10.0
12 rhinitis 10.0
13 intrinsic asthma 10.0
14 aplastic anemia 9.8 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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Symptoms via clinical synopsis from OMIM:

57
Nose:
polyps

Immunologic:
aspirin intolerance

Pulmonary:
bronchial asthma


Clinical features from OMIM:

208550

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

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-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 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Not Applicable 50-78-2 2244
2 Platelet Aggregation Inhibitors Not Applicable
3 Analgesics Not Applicable
4 Peripheral Nervous System Agents Not Applicable
5 Fibrinolytic Agents Not Applicable
6 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
7 Analgesics, Non-Narcotic Not Applicable
8 Antirheumatic Agents Not Applicable
9 Antipyretics Not Applicable
10 Ophthalmic Solutions Not Applicable
11 Cyclooxygenase Inhibitors Not Applicable
12 Anti-Inflammatory Agents Not Applicable
13 Omega 3 Fatty Acid 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

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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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
2
Sinusitis in adults and its relation to allergic rhinitis, asthma, and nasal polyps. ( 3057048 )
1988
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 37
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 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
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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