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 |
|---|---|---|---|---|---|---|
| DCTN4 | DCTN4:c.1047C>G(p.Phe349Leu) | Expressivity | Altered onset time of P. aeruginosa airway infection | P<0.05 | Variants in DCTN4 are associated with time to first Pseudomonas aeruginosa (P. aeruginosa) airway infection, chronic P. aeruginosa infection and mucoid P. aeruginosa among individuals with cystic fibrosis (MIM219700).more | more |
| DCTN4:c.809A>G(p.Tyr263Cys) | Expressivity | Altered onset time of P. aeruginosa airway infection | P<0.05 | Variants in DCTN4 are associated with time to first Pseudomonas aeruginosa (P. aeruginosa) airway infection, chronic P. aeruginosa infection and mucoid P. aeruginosa among individuals with cystic fibrosis (MIM219700).more | more | |
| DCTN4:c.809A>G(p.Tyr263Cys) | Expressivity | Altered response to pulmonary infection with Pa | P=0.06 | p.Tyr263Cys tend to be more frequently observed in CF patients with CPA than in patients without CPAmore | more | |
| DCTN4 | Pleiotropy | Altered phenotype | From review article | P. aeruginosamore | more | |
| CXCR2 | CXCR2 | Pleiotropy | Altered phenotype | From review article | Lung diseasemore | more |
| CXCR1 | CXCR1 | Pleiotropy | Altered phenotype | From review article | Lung diseasemore | more |
| CXCL8 | CXCL8:c.-352A>T | Expressivity | Altered severity | Assessment of genotype–phenotype associations | The rs4073, rs2227306 and rs2227307 polymorphisms are potentiating factors for the degree of variability in the severity of CF, especially in pulmonary clinical manifestation correlated with increased morbidity and mortality.more | more |
| CXCL8:c.64+230T>G | Expressivity | Altered severity | Assessment of genotype–phenotype associations | The rs4073, rs2227306 and rs2227307 polymorphisms are potentiating factors for the degree of variability in the severity of CF, especially in pulmonary clinical manifestation correlated with increased morbidity and mortality.more | more | |
| CXCL8:c.65-204C>T | Expressivity | Altered severity | Assessment of genotype–phenotype associations | The rs4073, rs2227306 and rs2227307 polymorphisms are potentiating factors for the degree of variability in the severity of CF, especially in pulmonary clinical manifestation correlated with increased morbidity and mortality.more | more | |
| CXCL8 | Expressivity | Risk factor | From review article | Association observed in ≥2 independent populations with ≥500 participants in aggregate.more | more |