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 |
---|---|---|---|---|---|---|
TGFB1 | TGFB1:c.C29T | Expressivity | Altered severity | Assessment of genotype–phenotype associations | The polymorphisms are associated with a more severe lung phenotype among subjects with CF.more | more |
TGFB1:c.C29T | Pleiotropy | Altered phenotype | From review article | Lung diseasemore | more | |
TGFB1:c.74G>C(p.Arg25Pro) | Expressivity | Altered severity | Assessment of genotype–phenotype associations | The polymorphisms are associated with a more severe lung phenotype among subjects with CF.more | more | |
TGFB1:c.74G>C(p.Arg25Pro) | Pleiotropy | Altered FEV1 level | From review article | NS for FEV1 predicted and FVC; Younger age at which FEV1 decreased to 50% expected associated with 915G in F508 homozygotes onlymore | more | |
TGFB1:c.869T>C | Pleiotropy | Altered FEV1 level | From review article | FEV1 <50% predicted and FVC <70% predicted associated with 869Tmore | more | |
TGFB1:c.869T>C | Expressivity | Altered lung function | P<0.05 | TGFB1 is a modifier of CF lung disease and reveal a previously unrecognized beneficial effect of TGFB1 variants upon the pulmonary phenotype.more | more | |
TGFB1:c.869T>C | Expressivity | Altered severity | Recessive model: P=0.0002;codominant model P=0.0009;dominant model P=0.04 | The replication study confirmed the association of the TGFβ1 codon 10 CC genotype with more severe lung diseasemore | more | |
TGFB1:c.869T>C | Pleiotropy | Altered pulmonary function | RR=1.74, 95% CI: 1.11 to 2. 73 | TGF-beta(1) genotypes may have a role in mediating pulmonary dysfunction in patients with cystic fibrosis.more | more | |
TGFB1 | Expressivity | Risk factor | From review article | Association observed in ≥3 independent populations with ≥1000 participants in aggregatemore | more | |
TGFB1 | Expressivity | Altered gene activity | Gene activity study | TGF-beta is sufficient to downregulate two critical chloride transporters in two CF-affected tissues that precedes expression changes of two distinct TGF-beta regulated proteins.more | more |