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
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