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 |
---|---|---|---|---|---|---|
MSRA | MSRA | Pleiotropy | Altered phenotype | From review article | Meconium ileusmore | more |
MC3R | MC3R | Pleiotropy | Altered phenotype | From review article | Lung diseasemore | more |
MBL2 | MBL2:c.154C>T(p.R52C) | Expressivity | Altered life span | Gene activity study | Presence of MBL variant alleles is therefore associated with poor prognosis and early death in patients with CF.more | more |
MBL2:c.161G>A(p.Gly54Asp) | Expressivity | Altered life span | Gene activity study | Presence of MBL variant alleles is therefore associated with poor prognosis and early death in patients with CF.more | more | |
MBL2:c.170G>A(p.Gly57Glu) | Expressivity | Altered life span | Gene activity study | Presence of MBL variant alleles is therefore associated with poor prognosis and early death in patients with CF.more | more | |
MBL2:c.-619C>G | Expressivity | Risk factor | P=0.022, OR=2.87, 95% CI: 1.14-7.27 | The MBL2 and ADRB2 genes exerts an important genetic influence on the lung diseasemore | more | |
MBL2:O/O | Expressivity | Altered life span | P=0.016 | TNFalpha-238 G/A and MBL2 O/O genotypes appear to be genetic modifiers of survival of cystic fibrosis.more | more | |
MBL2 | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | FEV1 values were significantly lowered and a significantly earlier age at onset of Pseudomonas aeruginosa colonisation was found in CF patients with at least one MBL2 variantmore | more | |
MBL2 | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | MBL2 deficiency was significantly associated with earlier onset of infectionmore | more | |
MBL2 | Expressivity | Altered severity | Assessment of genotype–phenotype associations, P=0.002 | MBL2 AO or OO genotypes were more likely to have a more severe pulmonary phenotype than patients having the AA genotype(p=0.002).more | more |