Disorder "Cystic fibrosis"
Found 271 records
Disorder information
Disorder name:
Cystic fibrosis
Disoder ID:
OMIM entry:
Synonyms:
CF,mucoviscidosis
Definition:
Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.
Modifier statisitcs
Record:
271
Gene:
86
Variant:
197
Reference:
76
Effect type:
Expressivity(157)
,Pleiotropy(82)
,Penetrance(32)
Modifier effect:
Altered severity(64)
,Altered phenotype(52)
,Risk factor(44)
,Altered incidence(30)
,Altered FEV1 level(12)
,Altered lung function(7)
,Altered life span(6)
,Altered the contributing organ(5)
,Altered susceptibility(4)
,Altered FEV(1)(4)
,CFTR mediated residual chloride secretion(4)
,Altered Ca2+-influx(3)
,Altered Pseudomonas aeruginosa colonization rate(3)
,Altered onset time(3)
,Age-adjusted lung function(2)
,Altered CF-associated pulmonary inflammation(2)
,Altered gene activity(2)
,Altered onset time of P. aeruginosa airway infection(2)
,Altered pulmonary function(2)
,Altered epithelial chloride secretion(1)
,Altered lung disease progression(1)
,Altered RhoA activity(1)
,Altered X ray score (Chrispin-Norman) and Shwachman score(1)
,Altered acute phase levels(1)
,Altered airway nitric oxide formation(1)
,Altered annual rate of FEV1(1)
,Altered chance of developing portal hypertension(1)
,Altered forced vital capacity and risk of MI or DIOS(1)
,Altered gene activity and Altered severity(1)
,Altered intestinal secretion(1)
,Altered onset time and altered severity(1)
,Altered pulmonary prognosis(1)
,Altered rates of CFRD(1)
,Altered response to pulmonary infection with Pa(1)
,Altered risk of chronic Pseudomonas aeruginosa infection(1)
,Altered variability of FENO and P. aeruginosa colonization(1)
,Anti-inflammatory target(1)
,Prevention of disease(1)
,Protective effect against severe pulmonary disease(1)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
GSTM3 | GSTM3 | Pleiotropy | Altered FEV1 level | From review article | Higher mean percent predicted FEV1 and mean FVC associated with A/B and B/B genotypesmore | more |
GSTM1 | GSTM1:deletion | Pleiotropy | Altered X ray score (Chrispin-Norman) and Shwachman score | From review article | Higher chest X ray score (Chrispin-Norman) and lower Shwachman score associated with 0/0more | more |
GSTM1:Null deletion | Expressivity | Risk factor | Gene activity study | High levels of GSTM1 0/0 genotypes in E patients favor the substantial contribution of certain environmental toxins in the pathogenesis of this widespread disease.more | more | |
GSTM1:Null deletion | Expressivity | Altered severity | P=0.02 | The genetic factor has been identified which appear to influence disease severity in cystic fibrosis.more | more | |
GCLC | GCLC:c.-594C>T | Expressivity | Altered severity | Balance testing accuracy=0.6824, P=0.008 | Polymorphisms in genes associated with metabolism of GSH act on the CF's severity.more | more |
GCLC:c.-594C>T | Expressivity | Altered severity | P=0.044 | CF severity is associated with polymorphisms in GSH pathways and CFTR mutationsmore | more | |
GCLC:c.-3506A>G | Expressivity | Altered severity | Balance testing accuracy=0.6824, P=0.008 | Polymorphisms in genes associated with metabolism of GSH act on the CF's severity.more | more | |
GCLC:c.-3506A>G | Expressivity | Altered severity | P=0.012 | CF severity is associated with polymorphisms in GSH pathways and CFTR mutationsmore | more | |
FCGR2A | FCGR2A:rs1801274 | Pleiotropy | Altered risk of chronic Pseudomonas aeruginosa infection | From review article | Higher risk of chronic Pseudomonas aeruginosa infection associated with His/Arg, Arg/Arg genotypesmore | more |
FAM13A | FAM13A | Expressivity | Altered RhoA activity | Gene activity study | FAM13A is a modifier gene of CF lung phenotype regulating RhoA activity, actin cytoskeleton dynamics and epithelial-mesenchymal transition.more | more |