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 |
---|---|---|---|---|---|---|
NOS3 | NOS3:c.894T>G(p.Asp298Glu) | Expressivity | Altered airway nitric oxide formation | P=0.02 | The 894T variant in the endothelial nitric oxide synthase gene is associated with increased airway nitric oxide formation in female cystic fibrosis patients, possibly affecting colonization of airways with P. aeruginosa.more | more |
NOS3:c.894T>G(p.Asp298Glu) | Pleiotropy | Altered annual rate of FEV1 | From review article | Lower Pseudomonas aeruginosa colonization rate in females with T allelemore | more | |
NOS1 | NOS1:AAT repeat polymorphism in intron 20 of the NOS1 | Pleiotropy | Altered variability of FENO and P. aeruginosa colonization | 4.0 +/- 0.8 [mean +/- sem] ppb versus 6.4 +/- 0.9 ppb, P=0.027 | The NOS1 gene is not only associated with the variability of FENO, but also with P. aeruginosa colonization of airways in CF patients.more | more |
NOS1:AAT repeat polymorphism in intron 20 of the NOS1 | Pleiotropy | Altered Pseudomonas aeruginosa colonization rate | From review article | Higher Pseudomonas aeruginosa colonization rate with both alleles >12 repeatsmore | more | |
NOS1:GT repeats (from 18 to 36) in the 5 untranslated region | Pleiotropy | Altered FEV1 level | From review article | Lower annual rate of FEV1 decline with both alleles >27 repeatsmore | more | |
NOS1:GT repeats (from 18 to 36) in the 5 untranslated region | Expressivity | Altered lung function | P=0.025 | The annual percentage loss of FEV1 was 3.3% (95% CI 1.1 to 5.4), 3.2% (95% CI 2.4 to 4.0),and 0.8% (20.5 to 2.1) for patients with 0, 1, and 2 alleles with > 27 repeats, respectivelymore | more | |
NAGNAG | NAGNAG | Expressivity | Altered severity | Pedigree analysis | Alternative splicing at a NAGNAG tandem site can remove a disease-causing UAG stop codon.more | more |
MUC5AC | MUC5AC | Pleiotropy | Altered phenotype | From review article | Lung diseasemore | more |
MUC4 | MUC4:c.14986+555T>C | Expressivity | Altered severity | Genome-wide association meta-analysis | Altered severity of lung diseasemore | more |
MSRA | MSRA | Expressivity | Risk factor | From review article | Association observed in ≥3 independent populations with ≥1000 participants in aggregatemore | more |