|
Pancreatitis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In patients with cystic fibrosis, mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene typically cause pulmonary and pancreatic insufficiency while rarely causing pancreatitis.
|
9725922 |
1998 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Though it is debatable whether these three individuals can be considered affected by CF, their pancreatitis is possibly a clinical manifestation of some CFTR-related disease.Hum Mutat 18:166, 2001.
|
11462247 |
2001 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Though it is debatable whether these three individuals can be considered affected by CF, their pancreatitis is possibly a clinical manifestation of some CFTR-related disease.Hum Mutat 18:166, 2001.
|
11462247 |
2001 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The length of recurrences of pancreatitis before diagnosis of chronic pancreatitis was shorter in chronic pancreatitis patients with one or more CFTR gene mutations than in the other idiopathic chronic pancreatitis patients (7.4+/-5.8 vs. 2.1+/-2 years).
|
12779072 |
2003 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Complex disease alleles and modifier genes are discussed along with alternative disorders, such as disseminated bronchiectasis and pancreatitis, which are also thought to result from CFTR mutations.
|
12940920 |
2003 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Inheritance of polymorphisms in SPINK1 and CFTR are associated with an increased risk of developing pancreatitis.
|
14688470 |
2004 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Compared to the controls with a known cause of pancreatitis (N = 78), cases had a higher prevalence of CFTR mutations (19% vs 2.6%, OR = 9.4; CI, 2.1-41.7; p= 0.0005).
|
15233679 |
2004 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
CFTR and SPINK-1 mutations have been reported to increase the risk of pancreatitis, but no data are available in HIV-positive patients.
|
15238770 |
2004 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It summarizes recent studies on the relationship between CFTR mutations and pancreatitis, and it reviews several unresolved issues in the field.
|
15528020 |
2004 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It summarizes recent studies on the relationship between CFTR mutations and pancreatitis, and it reviews several unresolved issues in the field.
|
15749233 |
2005 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to evaluate the incidence of pancreatitis in a large heterogeneous CF population, to determine the relationship with pancreatic function, and to assess whether pancreatitis is associated with specific CFTR mutations.
|
15772171 |
2005 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
This haplotype should be included in the genetic panel when evaluating patients of central or eastern European genetic background for possible CFTR related pancreatitis.
|
15775704 |
2005 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
This haplotype should be included in the genetic panel when evaluating patients of central or eastern European genetic background for possible CFTR related pancreatitis.
|
15775704 |
2005 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The authors examine whether mild or severe CFTR mutations, homozygous or compound heterozygous CFTR mutations, or even simple cystic fibrosis carrier status alone increases the risk of developing pancreatitis.
|
15987793 |
2005 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Twelve of 56 patients with pancreatitis (21%) fulfilled current clinical criteria for the diagnosis of CF, but CFTR genotyping alone confirmed the diagnosis in only two of these patients.
|
16193325 |
2005 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Genetic mutations in the pancreatic secretory trypsin inhibitor and the cystic fibrosis transmembrane conductance regulator have been described to play a role in the development of pancreatitis as well.
|
16764792 |
2006 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
No association between CFTR mutations and pancreatitis was observed.
|
16954950 |
2006 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
We analyzed 381 patients with a primary diagnosis of chronic or recurrent pancreatitis using the Ambry Test: Pancreatitis to obtain comprehensive genetic information for the CFTR, SPINK1, and PRSS1 genes.
|
17003641 |
2006 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We analyzed 381 patients with a primary diagnosis of chronic or recurrent pancreatitis using the Ambry Test: Pancreatitis to obtain comprehensive genetic information for the CFTR, SPINK1, and PRSS1 genes.
|
17003641 |
2006 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
A model of interactions between environmental triggers of pancreatic inflammation and disease susceptibility or modifying genes (including PRSS1, SPINK1 and CFTR) provides a framework within which to understand disease pathogenesis.
|
17090903 |
2006 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis.
|
17489851 |
2007 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
These observations suggest that impaired epithelial ion transport due to mild CFTR genotype (namely, IVS8-5T-TG12) might be involved as a triggering factor in acute onsets of pancreatitis in PD, possibly through abnormal pancreatic fluid secretion.
|
17575549 |
2007 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These observations suggest that impaired epithelial ion transport due to mild CFTR genotype (namely, IVS8-5T-TG12) might be involved as a triggering factor in acute onsets of pancreatitis in PD, possibly through abnormal pancreatic fluid secretion.
|
17575549 |
2007 |