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
SERPINA1	SERPINA1:c.1096G>A(p.Glu366Lys)	Expressivity	Altered severity	OR=4.72; 95% CI: 2.31-9.61; P=3.3×10(-6)	Patients who carry the Z allele are at greater risk of developing severe liver disease with portal hypertension.more	19738092 more
	SERPINA1:c.1237G>A	Expressivity	Altered acute phase levels	From review article	1237G>A in the 3′untranslated region, which may result in a decrease in acute phase levelsmore	18812833 more
	SERPINA1:c.4627G>A	Expressivity	Altered severity	Gene activity study	Deficiency of alpha 1-AT is not associated with more severe pulmonary disease in cystic fibrosis and may be associated with milder lung disease.more	10195072 more
	SERPINA1:c.863A>T(p.Glu288Val)	Expressivity	Altered severity	Gene activity study	Deficiency of alpha 1-AT is not associated with more severe pulmonary disease in cystic fibrosis and may be associated with milder lung disease.more	10195072 more
	SERPINA1:p.Glu264Val	Expressivity	Altered severity	From review article	Glu264Val or c2313T>A and Glu342Lys or c4627G>A reduced plasma levels of α1-antitrypsin,affect lung disease or nutritional status and have mixed results regarding infection status and liver disease.more	18812833 more
	SERPINA1:p.Glu342Lys	Expressivity	Altered severity	From review article	Glu264Val or c2313T>A and Glu342Lys or c4627G>A reduced plasma levels of α1-antitrypsin,affect lung disease or nutritional status and have mixed results regarding infection status and liver disease.more	18812833 more
	SERPINA1:p.Gly264Val	Expressivity	Risk factor	From review article	The mutation associated with Gilbert syndrome represents a lithogenic risk factor for gallstone formation in CFmore	20955961 more
	SERPINA1:p.Gly342Leu	Expressivity	Risk factor	From review article	The mutation associated with Gilbert syndrome represents a lithogenic risk factor for gallstone formation in CFmore	20955961 more
	SERPINA1	Pleiotropy	Altered Pseudomonas aeruginosa colonization rate	From review article	Higher FEV1 and fewer colonized with Pseudomonas aeruginosa for deficient patientsmore	16124861 more
	SERPINA1	Expressivity	Risk factor	From review article	Association observed in ≥2 independent populations with ≥500 participants in aggregatemore	21175684 more

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