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 |
|---|---|---|---|---|---|---|
| FBXL7 | FBXL7:rs10044254 | Expressivity | Altered response to inhaled corticosteroid | P=9.16×10(-8) | rs10044254, associated with both decreased expression of FBXL7 and improved symptomatic response to ICSs in 2 independent pediatric cohorts.more | more |
| DUSP1 | DUSP1:c.-600C>T | Expressivity | Altered bronchodilator response | From review article | Mutations in DUSP1 is Associated with bronchodilator response and asthma control in the presence of corticosteroidsmore | more |
| CYSLTR2 | CYSLTR2:c.*1493A>G | Expressivity | Altered morning PEF | From review article | Mutations in CYSLT2 is Associated with morning PEF in subjects taking montelukastmore | more |
| CYSLTR2:c.*1493A>G | Expressivity | Altered response to montelukast | P=0.02 | CYSLTR2 and ALOX5 polymorphisms may predispose a minority of individuals to excessive cysteinyl-leukotriene concentrations, yielding a distinct asthma phenotype most likely to respond to leukotriene modifier pharmacotherapy.more | more | |
| CYSLTR2:rs91227 | Expressivity | Altered morning PEF | From review article | Mutations in CYSLT2 is Associated with morning PEF in subjects taking montelukastmore | more | |
| CYSLTR2:rs91227 | Expressivity | Altered response to montelukast | P=0.02 | CYSLTR2 and ALOX5 polymorphisms may predispose a minority of individuals to excessive cysteinyl-leukotriene concentrations, yielding a distinct asthma phenotype most likely to respond to leukotriene modifier pharmacotherapy.more | more | |
| CRHR1 | CRHR1:c.-96-1309A>C | Expressivity | Altered response to corticosteroid | From review article | Mutations in CRHR1 is Associated with corticosteroid responsemore | more |
| CASP8 | CASP8:c.1030G>C(p.Asp344His) | Expressivity | Risk factor | P=0.033 | rs1045485 in CASP8 was modestly associated with asthma in the Hispanic (P=0.033) populations,more | more |
| CASP10 | CASP10:c.922+243C>T | Expressivity | Risk factor | P=0.0009 | These data suggest a role for CASP10 as a potential modifier of the asthma phenotype, specifically with measures of airway obstruction and BHR.more | more |
| CASP10:rs10166093 | Expressivity | Risk factor | P=0.0033 | These data suggest a role for CASP10 as a potential modifier of the asthma phenotype, specifically with measures of airway obstruction and BHR.more | more |