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
Haplotype	Haplotype:(KRT8:rs1907671,rs4300473,rs2035878,rs2035875)	Expressivity	Altered severity	P=0.0051	The KRT8 haplotype 2211 was associated with mild CF disease while 1122 was observed as risk haplotype.more	21548936 more
	Haplotype:(TGFB1:-509–codon 10–intron 5:C–T–C)	Expressivity	Altered lung function	P=0.009	TGFB1 is a modifier of CF lung disease and reveal a previously unrecognized beneficial effect of TGFB1 variants upon the pulmonary phenotype.more	18424453 more
	Haplotype:(TGFB1:-509–codon 10–intron 5:T–C)	Expressivity	Altered lung function	P=0.015	TGFB1 is a modifier of CF lung disease and reveal a previously unrecognized beneficial effect of TGFB1 variants upon the pulmonary phenotype.more	18424453 more
	Haplotype:(TGFB1:-509–codon 10–intron 5:T–C–C)	Expressivity	Altered lung function	P=0.032	TGFB1 is a modifier of CF lung disease and reveal a previously unrecognized beneficial effect of TGFB1 variants upon the pulmonary phenotype.more	18424453 more
GSTP1	GSTP1:pV105I	Expressivity	Altered severity	Balance testing accuracy=0.6824, P=0.008	Polymorphisms in genes associated with metabolism of GSH act on the CF's severity.more	23758905 more
	GSTP1:pV105I	Expressivity	Altered severity	P=0.036	CF severity is associated with polymorphisms in GSH pathways and CFTR mutationsmore	24593045 more
	GSTP1:p.Ile105Val	Expressivity	Risk factor	P<0.03	GSTP1-Ile105/Ile105 genotype was associated with a 8-fold increase in the risk of liver diseasemore	12297838 more
	GSTP1:pV105I	Expressivity	Risk factor	From review article	The mutation associated with Gilbert syndrome represents a lithogenic risk factor for gallstone formation in CFmore	20955961 more
	GSTP1	Pleiotropy	Altered phenotype	From review article	Liver diseasemore	25053892 more
GSTM3	GSTM3	Expressivity	Altered severity	Assessed by both mean values of fev1 and of fvc (respectively P=0.01 and P=0.002)	Polymorphism of the GSTM3 gene contributes to clinical severity in CFmore	15115915 more

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