PhenoModifier-Disease Detail

Disorder "Cystic fibrosis"

Found 271 records

Disorder information

Disorder name:

Cystic fibrosis

Disoder ID:

DOID_1485

OMIM entry:

OMIM:219700

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
SLC26A9	SLC26A9	Pleiotropy	Altered phenotype	From review article	Meconium ileus + diabetesmore	25053892 more
SLC26A9	SLC26A9	Expressivity	Altered epithelial chloride secretion	Study on animal models	SLC26A9 as a disease modifier and supported an important role of this alternative chloride channel in the pathophysiology of several organ manifestations in CFmore	30327603 more
SLC11A1	SLC11A1:rs17234516	Pleiotropy	Altered phenotype	OR=3.333; 95% CI: 1.085-10.24	The clinical and laboratory variability of CF were associated with the variants in the genes of SLC familymore	28756021 more
SERPINE1	SERPINE1:p.Arg101His	Penetrance	Altered incidence	Assessment of genotype–phenotype associations	May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore	19467940 more
	SERPINE1:p.Asp256Asp	Penetrance	Altered incidence	Assessment of genotype–phenotype associations	May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore	19467940 more
	SERPINE1:p.Glu264Val	Penetrance	Altered incidence	Assessment of genotype–phenotype associations	May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore	19467940 more
	SERPINE1:p.Glu376Asp	Penetrance	Altered incidence	Assessment of genotype–phenotype associations	May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore	19467940 more
	SERPINE1:p.Val213Ala	Penetrance	Altered incidence	Assessment of genotype–phenotype associations	May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore	19467940 more
SERPINA1	SERPINA1:c.*1331G>A	Pleiotropy	Altered pulmonary prognosis	1237a: 0.2+/-0.1; 1237g: 1.2+/-0.1; P=0.002	This AAT enhancer polymorphism is associated with better pulmonary prognosis in CF.more	11313771 more
SERPINA1	SERPINA1:c.1096G>A(p.Glu366Lys)	Expressivity	Risk factor	HR=1.6; 95% CI: 1.1-2.4, P=0.019	CF patients carrying the SERPINA1 Z allele had an increased risk of developing CFLD and related complications compared with noncarriers.more	30739910 more

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