MCID: PRS050
MIFTS: 19

Prss1-Related Hereditary Pancreatitis

Categories: Endocrine diseases

Aliases & Classifications for Prss1-Related Hereditary Pancreatitis

MalaCards integrated aliases for Prss1-Related Hereditary Pancreatitis:

Name: Prss1-Related Hereditary Pancreatitis 24

Characteristics:

GeneReviews:

24
Penetrance The reported penetrance of prss1-related hp varies:...

Classifications:



Summaries for Prss1-Related Hereditary Pancreatitis

MalaCards based summary : Prss1-Related Hereditary Pancreatitis is related to acute pancreatitis and recurrent acute pancreatitis. An important gene associated with Prss1-Related Hereditary Pancreatitis is CFTR (CF Transmembrane Conductance Regulator), and among its related pathways/superpathways are Matrix Metalloproteinases and Pancreatic secretion. Affiliated tissues include kidney and testes.

GeneReviews: NBK84399

Related Diseases for Prss1-Related Hereditary Pancreatitis

Graphical network of the top 20 diseases related to Prss1-Related Hereditary Pancreatitis:



Diseases related to Prss1-Related Hereditary Pancreatitis

Symptoms & Phenotypes for Prss1-Related Hereditary Pancreatitis

Drugs & Therapeutics for Prss1-Related Hereditary Pancreatitis

Search Clinical Trials , NIH Clinical Center for Prss1-Related Hereditary Pancreatitis

Genetic Tests for Prss1-Related Hereditary Pancreatitis

Anatomical Context for Prss1-Related Hereditary Pancreatitis

MalaCards organs/tissues related to Prss1-Related Hereditary Pancreatitis:

41
Kidney, Testes

Publications for Prss1-Related Hereditary Pancreatitis

Articles related to Prss1-Related Hereditary Pancreatitis:

(show top 50) (show all 75)
# Title Authors PMID Year
1
Accelerating the Drug Delivery Pipeline for Acute and Chronic Pancreatitis: Summary of the Working Group on Drug Development and Trials in Recurrent Acute Pancreatitis at the National Institute of Diabetes and Digestive and Kidney Diseases Workshop. 4
30325857 2018
2
Accelerating the Drug Delivery Pipeline for Acute and Chronic Pancreatitis: Summary of the Working Group on Drug Development and Trials in Chronic Pancreatitis at the National Institute of Diabetes and Digestive and Kidney Diseases Workshop. 4
30325858 2018
3
Accelerating the Drug Delivery Pipeline for Acute and Chronic Pancreatitis: Summary of the Working Group on Drug Development and Trials in Acute Pancreatitis at the National Institute of Diabetes and Digestive and Kidney Diseases Workshop. 4
30325856 2018
4
Accelerating the Drug Delivery Pipeline for Acute and Chronic Pancreatitis-Knowledge Gaps and Research Opportunities: Overview Summary of a National Institute of Diabetes and Digestive and Kidney Diseases Workshop. 4
30325855 2018
5
Hereditary Pancreatitis in the United States: Survival and Rates of Pancreatic Cancer. 4
30018304 2018
6
Germline Variants and Risk for Pancreatic Cancer: A Systematic Review and Emerging Concepts. 4
30113427 2018
7
Recurrent Acute Pancreatitis: International State-of-the-Science Conference With Recommendations. 4
29894415 2018
8
The Interface of Pancreatic Cancer With Diabetes, Obesity, and Inflammation: Research Gaps and Opportunities: Summary of a National Institute of Diabetes and Digestive and Kidney Diseases Workshop. 4
29702529 2018
9
Known genetic susceptibility factors for chronic pancreatitis in patients of European ancestry are rare in patients of African ancestry. 4
29859674 2018
10
Age and Disease Duration Impact Outcomes of Total Pancreatectomy and Islet Autotransplant for PRSS1 Hereditary Pancreatitis. 4
29517634 2018
11
Fluid resuscitation with lactated Ringer's solution vs normal saline in acute pancreatitis: A triple-blind, randomized, controlled trial. 4
29435315 2018
12
Guidelines for the understanding and management of pain in chronic pancreatitis. 4
28734722 2017
13
Patient and Disease Characteristics Associated With the Presence of Diabetes Mellitus in Adults With Chronic Pancreatitis in the United States. 4
28741615 2017
14
Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations. 4
28502372 2017
15
Clinical profile and treatment outcome of chronic pancreatitis in children: a long-term follow-up study of 156 cases. 4
28276824 2017
16
Quality of Life in Chronic Pancreatitis is Determined by Constant Pain, Disability/Unemployment, Current Smoking, and Associated Co-Morbidities. 4
28244497 2017
17
Long-term pain relief with optimized medical treatment including antioxidants and step-up interventional therapy in patients with chronic pancreatitis. 4
27061119 2017
18
PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis. 4
27578509 2016
19
Risk Factors Associated With Pediatric Acute Recurrent and Chronic Pancreatitis: Lessons From INSPPIRE. 4
27064572 2016
20
Chronic pancreatitis: An international draft consensus proposal for a new mechanistic definition. 4
26924663 2016
21
Timing, rates and spectra of human germline mutation. 4
26656846 2016
22
Mechanism, assessment and management of pain in chronic pancreatitis: Recommendations of a multidisciplinary study group. 4
26620965 2016
23
Common Variants in CLDN2 and MORC4 Genes Confer Disease Susceptibility in Patients with Chronic Pancreatitis. 4
26820620 2016
24
Association of claudin2 and PRSS1-PRSS2 polymorphisms with idiopathic recurrent acute and chronic pancreatitis: A case-control study from India. 4
26110235 2015
25
Polymorphisms at PRSS1-PRSS2 and CLDN2-MORC4 loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study. 4
25253127 2015
26
A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. 4
25774637 2015
27
Screening and early detection of pancreatic cancer in high risk population. 4
24605033 2014
28
Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis. 4
23455445 2014
29
Total pancreatectomy and islet autotransplantation in chronic pancreatitis: recommendations from PancreasFest. 4
24555976 2014
30
Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study. 4
24002981 2013
31
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated? 4
22427236 2013
32
Classification of acute pancreatitis--2012: revision of the Atlanta classification and definitions by international consensus. 4
23100216 2013
33
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. 4
23143602 2012
34
Endoscopic therapy is effective for patients with chronic pancreatitis. 4
22245964 2012
35
Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexican pediatric patients with acute and recurrent pancreatitis. 4
22699143 2012
36
Correlation of histopathology, islet yield, and islet graft function after islet autotransplantation in chronic pancreatitis. 4
21404456 2011
37
Use and perceived effectiveness of non-analgesic medical therapies for chronic pancreatitis in the United States. 4
21083584 2011
38
Metformin and cancer risk in diabetic patients: a systematic review and meta-analysis. 4
20947488 2010
39
Total pancreatectomy and islet cell autotransplantation as a means of treating patients with genetically linked pancreatitis. 4
20846557 2010
40
Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark. 4
20502448 2010
41
The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families. 4
19951905 2010
42
Outcomes of interventional ERCP in hereditary pancreatitis. 4
19713862 2010
43
Genetic aspects of pancreatitis. 4
20059346 2010
44
Alcohol consumption, cigarette smoking, and the risk of recurrent acute and chronic pancreatitis. 4
19506173 2009
45
Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families. 4
19454815 2009
46
Chronic pancreatitis: genetics and pathogenesis. 4
19453252 2009
47
The natural history of hereditary pancreatitis: a national series. 4
18755888 2009
48
Assessment of chronic pancreatitis: utility of diffusion-weighted MR imaging with secretin enhancement. 4
19001148 2009
49
Genetic mutations in a Spanish population with chronic pancreatitis. 4
19657220 2009
50
Outcome after pancreatectomy and islet autotransplantation in a pediatric population. 4
18607267 2008

Variations for Prss1-Related Hereditary Pancreatitis

Expression for Prss1-Related Hereditary Pancreatitis

Search GEO for disease gene expression data for Prss1-Related Hereditary Pancreatitis.

Pathways for Prss1-Related Hereditary Pancreatitis

Pathways related to Prss1-Related Hereditary Pancreatitis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.15 PRSS2 PRSS1
2 10.81 PRSS2 PRSS1 CFTR
3 10.28 PRSS1 CTRC

GO Terms for Prss1-Related Hereditary Pancreatitis

Cellular components related to Prss1-Related Hereditary Pancreatitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 8.92 SPINK1 PRSS2 PRSS1 CTRC

Biological processes related to Prss1-Related Hereditary Pancreatitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.5 PRSS2 PRSS1 CTRC
2 extracellular matrix disassembly GO:0022617 9.26 PRSS2 PRSS1
3 digestion GO:0007586 9.16 PRSS2 PRSS1
4 sperm capacitation GO:0048240 8.96 SPINK1 CFTR
5 cobalamin metabolic process GO:0009235 8.62 PRSS1 CTRC

Molecular functions related to Prss1-Related Hereditary Pancreatitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.43 PRSS2 PRSS1 CTRC
2 hydrolase activity GO:0016787 9.33 PRSS2 PRSS1 CTRC
3 serine-type endopeptidase activity GO:0004252 9.13 PRSS2 PRSS1 CTRC
4 serine-type peptidase activity GO:0008236 8.8 PRSS2 PRSS1 CTRC

Sources for Prss1-Related Hereditary Pancreatitis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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