ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE

General Information (adopted from Orphanet):

Synonyms, Signs: ASTHMA AND NASAL POLYPS, INCLUDED
ASA TRIAD ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO, INCLUDED
Number of Symptoms 6
OrphanetNr:
OMIM Id: 208550
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0100582) Nasal polyposis 14 / 7739
2
(HPO:0002099) Asthma 62 / 7739
3
(HPO:0012042) Aspirin-induced asthma 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(MedDRA:10061529) Polyp 1 / 7739
6
(OMIM) Aspirin intolerance 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lockey et al. (1973) observed 2 families. In 1 family, consanguinity suggested recessive inheritance. The late onset and discordance in a pair of identical twins suggested that environmental factors may be important also. Miller (1971) reported affected sisters. ...
Molecular genetics OMIM Sanak et al. (1997) identified a -444A-C promoter polymorphism in the LTC4S gene that was overrepresented among patients with aspirin-intolerant asthma. Six of 11 AIA patients were homozygous for the -444C allele, compared to only 1 individual in ...