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 |
|---|---|---|---|---|---|---|
| CFTR | CFTR:c.349C>G(p.Arg117Gly) | Expressivity | Risk factor | From review article | Genetic modifiers of CF-associated liver diseasemore | more |
| CFTR:c.3909C>G(p.Asn1303Lys) | Expressivity | Risk factor | From review article | Genetic modifiers of CF-associated liver diseasemore | more | |
| CFTR:c.443T>A(p.Ile148Asn) | Expressivity | Risk factor | P=0.0014 | It is concluded that I148T occurs on at least three haplotypes and the complex allele I148T + 9T + 3199del6 is associated with a classic CF phenotype.more | more | |
| CFTR:c.680T>G(p.Leu227Arg) | 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 | F508del-CFTR exhibits multiple defects in protein folding, maturation, and delivery with only a small percentage delivered to the cell surfacemore | more | |
| CFTR:p.Glu831* | Expressivity | Altered severity | Pedigree analysis | As the origin of the mild to asymptomatic phenotype observed in cystic fibrosis patients homozygous for the E831X mutation (2623G>T) in the CFTR gene.more | more | |
| CFTR:c.443T>A(p.Ile148Asn) | Expressivity | Risk factor | Assessment of genotype–phenotype associations | Phenotype modifiermore | more | |
| CFTR:c.443T>A(p.Ile148Asn) | Expressivity | Altered onset time and altered severity | Assessment of genotype–phenotype associations, P=0.002 | Residual anion secretion was detected in 40% of CF patients, and was associated with later disease onset (P < 0.0001), higher frequency of PS (P < 0.0001), and less severe lung disease (P < 0.05).more | more | |
| CFTR:rs982968807 | Expressivity | Altered severity | Gene activity study | The sequence change (-102T>A) in the CFTR minimal promoter could attenuate the severe clinical phenotype associated with mutation S549R(T>G).more | more | |
| CFM1 | CFM1 | Penetrance | Altered incidence | Gene activity study | Suppressormore | more |