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 |
---|---|---|---|---|---|---|
TNFRSF1B | TNFRSF1B:c.587T>G(p.Met196Arg) | Expressivity | Altered severity | P=0.0005, OR=4.92, 95% CI:2.34-10.34 | TNFα -857T allele and GG genotype of TNFR2 +587 were more frequent in CF patients compared to healthy controls and hence, they showed an association with CF and severe pulmonary phenotype in Iranian patients.more | more |
TNF | TNF:c.-308G>A | Expressivity | Altered FEV(1) | 8.1ah comprises linked polymorphisms of major pro-inflammatory cytokines including lta, tnf, hsp and rage. On average, fev1 was significantly lower in 8.1 ah carriers (P<0.04). | These findings support the concept that 8.1AH is an important genetic modifier of lung disease in CF.more | more |
TNF:c.-1037C>T | Expressivity | Altered severity | P=0.0005, OR=7.06, 95% CI:3.71-13.45 | TNFα -857T allele and GG genotype of TNFR2 +587 were more frequent in CF patients compared to healthy controls and hence, they showed an association with CF and severe pulmonary phenotype in Iranian patients.more | more | |
TNF:c.-308G>A | Expressivity | Altered severity | OR=5.98, 95% CI:1.06-49.68 | The -308G>A polymorphism of the TNF-α gene was associated with the CF severity.more | more | |
TNF:c.-308G>A | Expressivity | Altered severity | P=0.02 | The genetic factor has been identified which appear to influence disease severity in cystic fibrosis.more | more | |
TNF:c.-238G>A | Expressivity | Altered life span | P=0.022 | TNFalpha-238 G/A and MBL2 O/O genotypes appear to be genetic modifiers of survival of cystic fibrosis.more | more | |
TNF:c.-308G>A | Pleiotropy | Altered FEV1 level | From review article | Lower FEV1 predicted associated with the G/A genotypemore | more | |
TLR5 | TLR5:c.1174C>T(p.Arg392*) | Expressivity | Anti-inflammatory target | P<0.0001 | Adults with CF carrying the TLR5 premature stop codon (CT or TT genotype) had a higher body mass index than did CF patients homozygous for the fully functional allele (CC genotype)more | more |
TLR5:c.1174C>T(p.Arg392*) | Pleiotropy | Altered phenotype | From review article | Lung diseasemore | more | |
TGFB1 | TGFB1:c.869T>C | Expressivity | Altered lung disease progression | P<0.05 | These findings support the concept that TGFB1 gene variants appear to be important genetic modifiers of lung disease progression in CF.more | more |