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 |
---|---|---|---|---|---|---|
CLCA4 | CLCA4 | Pleiotropy | Altered phenotype | From review article | Intestinemore | more |
CLCA1 | CLCA1:p.S357N | Expressivity | Altered severity | P=0.009 | CLCA1 has important functions in CF-related intestinal obstruction in humansmore | more |
CLCA1:rs2734705 | Expressivity | Altered severity | P=0.002 | The polymorphism is associated with the CF severity.more | more | |
CHI3L1 | CHI3L1:rs871799 | Expressivity | Age-adjusted lung function | OR=0.24, P=0.043 | Two CHI3L1 SNPs (rs871799 and rs880633) were found to modulate age-adjusted lung function in CF patients.more | more |
CHI3L1:rs880633 | Expressivity | Age-adjusted lung function | OR=0.46, P=0.016 | Two CHI3L1 SNPs (rs871799 and rs880633) were found to modulate age-adjusted lung function in CF patients.more | more | |
CFTR | CFTR:c.1040G>A(p.Arg347His) | Expressivity | Risk factor | From review article | Genetic modifiers of CF-associated liver diseasemore | more |
CFTR:c.1364C>A(p.Ala455Glu) | Expressivity | Risk factor | From review article | Genetic modifiers of CF-associated liver diseasemore | more | |
CFTR:c.1408G>A(p.Met470Val) | Expressivity | Risk factor | OR= 0.29, 95% CI: 0.11–0.80, P=0.016 | Patients with VV470 genotype had a 3.4-fold decreased risk for the appearance of severe/very severe COPD symptoms,more | more | |
CFTR:c.1475C>T(p.Ser492Phe) | Expressivity | Risk factor | From review article | Genetic modifiers of CF-associated liver diseasemore | more | |
CFTR:c.1521_1523delCTT(p.Phe508del) | Expressivity | Risk factor | From review article | In DF508 mutant mice increased faecal bile acid loss leads to more hydrophobic bile salts in hepatic bile and to hyperbilirubinbiliamore | more |