Disorder "Asthma"
Found 58 records
Disorder information
Disorder name:
Asthma
Disoder ID:
Synonyms:
malignant tumor of abdomen (disorder),Exercise induced asthma,bronchial hyperreactivity,chronic obstructive asthma,chronic obstructive asthma with acute exacerbation,chronic obstructive asthma with status asthmaticus,exercise-induced asthma
Definition:
A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.?
Modifier statisitcs
Record:
58
Gene:
23
Variant:
41
Reference:
11
Effect type:
Expressivity(57)
,Penetrance(1)
Modifier effect:
Risk factor(19)
,Altered response to corticosteroid(7)
,Altered response to leukotriene modifiers(4)
,Altered response to montelukast(4)
,Altered response to zileuton and montelukast therapy(4)
,Altered response to therapy(3)
,Altered morning PEF(2)
,Altered response to asthma therapy(2)
,Altered response to b2AR agonist(2)
,Altered response to zileuton therapy(2)
,Promoting asthmatic phenotype(2)
,Altered bronchodilator response(1)
,Altered incidence(1)
,Altered plasma concentrations of montelukast(1)
,Altered response for lung function(1)
,Altered response to inhaled corticosteroid(1)
,Altered response to treatment(1)
,Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TBX21 | TBX21:c.99C>G(p.His33Gln) | Expressivity | Altered response for lung function | From review article | Variants in CRHR1, TBX21, and FCER2 contribute to variability in response for lung function, airways responsiveness, and exacerbations in patients taking inhaled corticosteroids.more | more |
| TBX21:c.99C>G(p.His33Gln) | Expressivity | Altered response to asthma therapy | From review article | In the TBX21 (H33Q), the gene coding for transcription factor T-bet (T-box expressed in T cells), is associated with significant improvement in methacholine responsiveness in children with asthma.more | more | |
| TBX21:n.12935445C>G(p.His33Gln) | Expressivity | Altered response to treatment | From review article | TBX21 nonsynonymous SNP (rs2240017C/G, His33Gln) was shown to be a predictor of improvements in BHR post-corticosteroid treatment in childrenmore | more | |
| TACR2 | TACR2:n.80-28546A>G(p.Gly231Glu) | Expressivity | Altered response to corticosteroid | From review article | Mutations in NK2R improved asthma control with corticosteroid treatmentmore | more |
| STIP1 | STIP1:c.151-1194A>G | Expressivity | Altered response to corticosteroid | From review article | Mutations in STIP1 is Associated with corticosteroid responsemore | more |
| STIP1:c.151-1291A>C | Expressivity | Altered response to corticosteroid | From review article | Mutations in STIP1 is Associated with corticosteroid responsemore | more | |
| STIP1:c.814-138C>T | Expressivity | Altered response to corticosteroid | From review article | Mutations in STIP1 is Associated with corticosteroid responsemore | more | |
| SLCO2B1 | SLCO2B1:c.935G>A(p.Arg312Gln) | Expressivity | Altered plasma concentrations of montelukast | From review article | Mutations in OATP2B1 Reduced morning plasma concentrations of montelukast, resulting in lack of clinical beneftmore | more |
| SLCO2B1:c.935G>A(p.Arg312Gln) | Expressivity | Altered response to leukotriene modifiers | From review article | Variants in ALOX5, LTA4H, LTC4S, ABCC1, CYSLTR2, and SLCO2B1 contribute to variability in response to leukotriene modifiersmore | more | |
| LTC4S | LTC4S:c.*3256C>A | Expressivity | Altered response to zileuton therapy | From review article | Mutations in LTC4S is Associated with LTRA and LTSI response and Causes a differential response to zileuton therapymore | more |