PRSS1, serine protease 1, 5644

N. diseases: 117; N. variants: 33
Disease: Hereditary pancreatitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Mutations in the trypsinogen gene (PRSS1) cause human hereditary pancreatitis. 31419436 2020
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE In 1996, mutations in PRSS1 were linked to the development of HP. 31550238 2020
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Mutations in the <i>PRSS1</i> (serine protease 1) gene encoding human cationic trypsinogen cause hereditary pancreatitis or may be associated with sporadic chronic pancreatitis. 30792736 2019
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis. 30420730 2018
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Hereditary pancreatitis (HP), an autosomal dominant disease typically caused by mutations in PRSS1, has a broad range of clinical characteristics and high cumulative risk of pancreatic cancer. 30018304 2018
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 Biomarker disease BEFREE Age and Disease Duration Impact Outcomes of Total Pancreatectomy and Islet Autotransplant for PRSS1 Hereditary Pancreatitis. 29517634 2018
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE PRSS1 and SPINK1 mutations serve as genetic background for HP in Japan. 28861620 2018
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Mutations of PRSS1 gene were found in 80% (33/41) of HP patients. 27179762 2017
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Despite 90% identity with PRSS1 and a strong propensity for autoactivation, mutations in PRSS2 are not found in hereditary pancreatitis suggesting that activation of this isoform is more tightly regulated. 27129265 2016
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Mutations of the human cationic trypsinogen gene (PRSS1) are frequently found in association with hereditary pancreatitis. 25546417 2015
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis. 24780743 2015
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease CLINVAR Genetic and electrophysiological characteristics of recurrent acute pancreatitis. 25383785 2015
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE A mutation in the PRSS1 gene is present in greater than 70% of HP kindreds and leads to a gain-of-function characterized by the increased autocatalytic conversion of trypsinogen to active trypsin, promoting autodigestion and damage to acinar cells. 26376395 2015
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis. 23455445 2014
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 Biomarker disease BEFREE In summary, PRSS1 hereditary pancreatitis is characterized by progressive lipomatous atrophy of the pancreas. 24525505 2014
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Hereditary pancreatitis is caused by mutations in human cationic trypsinogen (PRSS1) which lead to increased autoactivation by altering chymotrypsin C (CTRC)-dependent trypsinogen activation and degradation. 23455445 2014
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR Chronic pancreatitis associated with the p.G208A variant of PRSS1 gene in a European patient. 24413785 2014
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR PRSS1 c.623G>C (p.G208A) variant is associated with pancreatitis in Japan. 23686146 2014
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis. 24458023 2014
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Since the identification of mutations in the cationic trypsinogen (PRSS1) gene as a cause of hereditary pancreatitis in 1996, we have seen great progress in our understanding of the genetics of pancreatitis. 24522117 2014
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 Biomarker disease BEFREE Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants. 23601753 2013
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study. 24002981 2013
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease CLINVAR Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants. 23601753 2013
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR An overview of hereditary pancreatitis. 21907651 2012
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE We found that in the presence of CTRC, trypsinogen mutants associated with classic hereditary pancreatitis (N29I, N29T, V39A, R122C, and R122H) autoactivated at increased rates and reached markedly higher active trypsin levels compared with wild-type cationic trypsinogen. 22539344 2012