PRSS1 gene related symptoms and diseases

All the information presented here about the PRSS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PRSS1 gene

Symptoms // Phenotype % Cases
Neoplasm Uncommon - Between 30% and 50% cases
Abnormal enzyme/coenzyme activity Uncommon - Between 30% and 50% cases
Peritonitis Uncommon - Between 30% and 50% cases
Abnormal thrombosis Uncommon - Between 30% and 50% cases
Elevated C-reactive protein level Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PRSS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Chronic pancreatitis
  • Portal vein thrombosis
  • Recurrent pancreatitis
  • Pancreatic calcification
  • Exocrine pancreatic insufficiency
  • Pancreatic pseudocyst
  • Chronic calcifying pancreatitis
  • Splanchnic vein thrombosis

And 22 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PRSS1 gene

Here you will find a list of rare diseases related to the PRSS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY CHRONIC PANCREATITIS

Alternate names

HEREDITARY CHRONIC PANCREATITIS Is also known as hp, pancreatitis, chronic, hpc

Description

Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.

Most common symptoms of HEREDITARY CHRONIC PANCREATITIS

  • Neoplasm
  • Pain
  • Fever
  • Vomiting
  • Diabetes mellitus


More info about HEREDITARY CHRONIC PANCREATITIS

SOURCES: OMIM ORPHANET

TRYPSINOGEN DEFICIENCY

Most common symptoms of TRYPSINOGEN DEFICIENCY

  • Failure to thrive
  • Edema
  • Anal atresia
  • Hypoproteinemia


More info about TRYPSINOGEN DEFICIENCY

SOURCES: OMIM


Potential gene panels for PRSS1 gene

Hereditary Pancreatitis (PRSS1, SPINK1, CTRC) Panel

United States.

By Center for Human Genetics, Inc Hereditary Pancreatitis (PRSS1, SPINK1, CTRC) that also includes the following genes: SPINK1 CTRC PRSS1

More info about this panel
United States.

Hereditary Pancreatitis (PRSS1, SPINK1) Panel

United States.

By Center for Human Genetics, Inc Hereditary Pancreatitis (PRSS1, SPINK1) that also includes the following genes: SPINK1 PRSS1

More info about this panel
United States.

Hereditary Pancreatitis (PRSS1, SPINK1, CTRC, CFTR) Panel

United States.

By Center for Human Genetics, Inc Hereditary Pancreatitis (PRSS1, SPINK1, CTRC, CFTR) that also includes the following genes: SPINK1 CFTR CTRC PRSS1

More info about this panel
United States.

PRSS1-Related Hereditary Pancreatitis Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the PRSS1 gene.

More info about this panel
United States.

Pancreatitis: PRSS1 (Full Gene Sequencing) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the PRSS1 gene.

More info about this panel
Canada.

Pancreatitis: PRSS1 (Known Mutation) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the PRSS1 gene.

More info about this panel
Canada.

Pancreatitis: Three-gene Profile (PRSS1, SPINK1, CFTR) (Full Gene Sequencing) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta Pancreatitis: Three-gene Profile (PRSS1, SPINK1, CFTR) (Full Gene Sequencing) that also includes the following genes: SPINK1 CFTR PRSS1

More info about this panel
Canada.

Hereditary Pancreatitis PRSS1 Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the PRSS1 gene.

More info about this panel
United States.

Pancreas Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Pancreas Panel that also includes the following genes: SPINK1 CASR UBR1 CEL CFTR SBDS CLDN2 CPA1 CTRC PRSS1

More info about this panel
United States.

Pancreatitis (PRSS1) Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the PRSS1 gene.

More info about this panel
United States.

Pancreatitis, Panel (CTRC, CFTR, PRSS1, SPINK1) Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Pancreatitis, Panel (CTRC, CFTR, PRSS1, SPINK1) Sequencing that also includes the following genes: SPINK1 CFTR CTRC PRSS1

More info about this panel
United States.

Hereditary Pancreatitis Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the PRSS1 gene.

More info about this panel
Canada.

Pancreatitis Panel Panel

United States.

By Ambry Genetics Pancreatitis Panel that also includes the following genes: SPINK1 CFTR CTRC PRSS1

More info about this panel
United States.

PRSS1. Sequencing of the exons 2 and 3 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PRSS1 gene.

More info about this panel
Spain.

PRSS1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PRSS1 gene.

More info about this panel
Spain.

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13

More info about this panel
United States.

Hereditary Pancreatic Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Pancreatic Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL CDK4 CDKN2A PALB2

More info about this panel
United States.

Pancreatitis Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pancreatitis Seq Analysis that also includes the following genes: SPINK1 CASR CFTR CTRC PRSS1

More info about this panel
United States.

Pancreatitis Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pancreatitis Seq + Del/Dup Panel that also includes the following genes: SPINK1 CASR CFTR CTRC PRSS1

More info about this panel
United States.

Pancreatitis, hereditary (sequence analysis of PRSS1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PRSS1 gene.

More info about this panel
Portugal.

Pancreatitis, hereditary (deletion/duplication analysis of PRSS1 and SPINK genes) Panel

Portugal.

By CGC Genetics Pancreatitis, hereditary (deletion/duplication analysis of PRSS1 and SPINK genes) that also includes the following genes: SPINK1 PRSS1

More info about this panel
Portugal.

Pancreatitis, chronic (N34S mutation on SPINK gene and R122H and N29I mutations on PRSS1 gene) Panel

Portugal.

By CGC Genetics Pancreatitis, chronic (N34S mutation on SPINK gene and R122H and N29I mutations on PRSS1 gene) that also includes the following genes: SPINK1 PRSS1

More info about this panel
Portugal.

Pancreatitis, hereditary (sequence analysis of SPINK1 and PRSS1 genes) Panel

Portugal.

By CGC Genetics Pancreatitis, hereditary (sequence analysis of SPINK1 and PRSS1 genes) that also includes the following genes: SPINK1 PRSS1

More info about this panel
Portugal.

PRSS1 related Hereditary Pancreatitis Panel

United Kingdom.

By Mersey Regional Genetics Laboratories Liverpool Women's Hospital

This panel specifically test the PRSS1 gene.

More info about this panel
United Kingdom.

Chronic Hereditary Pancreatitis via PRSS1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PRSS1 gene.

More info about this panel
United States.

Chronic Pancreatitis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Chronic Pancreatitis Sequencing Panel with CNV Detection that also includes the following genes: SPINK1 CASR CFTR CTRC PRSS1

More info about this panel
United States.

FOX3P Panel

Slovakia.

By Department of Clinical Genetics St. Elisabeth Cancer Institute

This panel specifically test the PRSS1 gene.

More info about this panel
Slovakia.

Pancreatitis Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the PRSS1 gene.

More info about this panel
Germany.

PRSS1-Related Hereditary Pancreatitis Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the PRSS1 gene.

More info about this panel
Germany.

PRSS1-Related Hereditary Pancreatitis Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the PRSS1 gene.

More info about this panel
Germany.

Hereditary Pancretitis Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Hereditary Pancretitis that also includes the following genes: SPINK1 PRSS1

More info about this panel
Germany.

Hereditary pancreatitis Panel

Czech Republic.

By DNA Diagnostics Laboratory University Hospital Ostrava Hereditary pancreatitis that also includes the following genes: SPINK1 CFTR PRSS1

More info about this panel
Czech Republic.

Pancreatitis hereditary Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PRSS1 gene.

More info about this panel
Germany.

Hereditary Pancreatitis Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum Hereditary Pancreatitis that also includes the following genes: SPINK1 CFTR PRSS1

More info about this panel
Germany.

Pancreatic cancer Panel Panel

Germany.

By CeGaT GmbH Pancreatic cancer Panel that also includes the following genes: BRCA1 BRCA2 SPINK1 STK11 EPCAM TP53 VHL PALLD CDKN2A PALB2

More info about this panel
Germany.

Single gene testing PRSS1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the PRSS1 gene.

More info about this panel
Germany.

Cancer Predisposition Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel
Estonia.

PRSS1-Related Hereditary Pancreatitis Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the PRSS1 gene.

More info about this panel
Germany.

Hereditary pancreatitis (SPINK1, PRSS1) Panel

Belgium.

By Center for Human Genetics Cliniques Universitaires Saint Luc Hereditary pancreatitis (SPINK1, PRSS1) that also includes the following genes: SPINK1 PRSS1

More info about this panel
Belgium.

Pancreatitis Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PRSS1 gene.

More info about this panel
Austria.

Hereditary pancreatitis Panel

Slovakia.

By Department of Clinical Genetics St. Elisabeth Cancer Institute Hereditary pancreatitis that also includes the following genes: SPINK1 PRSS1

More info about this panel
Slovakia.

Pancreatitis Panel

Slovakia.

By MedGene

This panel specifically test the PRSS1 gene.

More info about this panel
Slovakia.

Invitae Chronic Pancreatitis Panel Panel

United States.

By Invitae Invitae Chronic Pancreatitis Panel that also includes the following genes: SPINK1 CASR CFTR CTRC PRSS1

More info about this panel
United States.

Pancreatitis, Hereditary: PRSS1mutation analysis gene (R122H) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PRSS1 gene.

More info about this panel
Spain.

Pancreatitis, Hereditary: PRSS1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PRSS1 gene.

More info about this panel
Spain.

Pancreatitis, Hereditary: PRSS1 gene screening Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PRSS1 gene.

More info about this panel
Spain.

Pancreatitis, Hereditary: PRSS1 gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PRSS1 gene.

More info about this panel
Spain.

HEREDITARY PANCREATITIS Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases HEREDITARY PANCREATITIS that also includes the following genes: SPINK1 CASR CFTR CTRC PRSS1

More info about this panel
Spain.

ONCOLOGY, PANEL Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4

More info about this panel
Spain.

Pancreatic Cancer: Sequencing Panel and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pancreatic Cancer: Sequencing Panel and Deletion/Duplication Panel that also includes the following genes: BRCA1 BRCA2 STK11 TP53 CDKN2A PALB2 APC SMAD4 MLH1 MSH2

More info about this panel
United States.

PRSS1 Gene, Full Gene Analysis Panel

United States.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic

This panel specifically test the PRSS1 gene.

More info about this panel
United States.

Hereditary Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel
United States.

Chronic Pancreatitis NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Chronic Pancreatitis NGS Panel that also includes the following genes: SPINK1 CASR CFTR CTRC PRSS1

More info about this panel
United States.

PRSS1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PRSS1 gene.

More info about this panel
United States.

Comprehensive Cancer Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel
United States.

Pancreatitis Panel Panel

Finland.

By Blueprint Genetics Pancreatitis Panel that also includes the following genes: SPINK1 UBR1 APOA5 CFTR CPA1 GPIHBP1 CTRC APOC2 PRSS1

More info about this panel
Finland.

Hereditary chronic pancreatitis Panel

Spain.

By Bioarray

This panel specifically test the PRSS1 gene.

More info about this panel
Spain.

Mutation Analysis of common mutations for hereditary pancreatitis Panel

India.

By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics Mutation Analysis of common mutations for hereditary pancreatitis that also includes the following genes: SPINK1 PRSS1

More info about this panel
India.

Hereditary Cancer Comprehensive Panel Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Hereditary Cancer Comprehensive Panel that also includes the following genes: RUNX1 SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TERC

More info about this panel
United States.

CHRONIC PANCREATITIS Panel

Spain.

By Laboratorio de Genetica Clinica SL CHRONIC PANCREATITIS that also includes the following genes: SPINK1 CASR CFTR CTRC PRSS1

More info about this panel
Spain.

CHRONIC PANCREATITIS: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CHRONIC PANCREATITIS: NGS PANEL that also includes the following genes: SPINK1 CASR CFTR CTRC PRSS1

More info about this panel
Spain.

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel
United States.

Hereditary Chronic Pancreatitis , Sequencing PRSS1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PRSS1 gene.

More info about this panel
Spain.

Hereditary Chronic Pancreatitis , Mutation (R122H) PRSS1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PRSS1 gene.

More info about this panel
Spain.

Hereditary Chronic Pancreatitis , Screening Frequent Mutations PRSS1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PRSS1 gene.

More info about this panel
Spain.

Hereditary Chronic Pancreatitis , Deletions-Duplications (MLPA) PRSS1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PRSS1 gene.

More info about this panel
Spain.

Hereditary Pancreatitis , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Pancreatitis , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SPINK1 CFTR CTRC PRSS1 PRSS2

More info about this panel
Spain.

Hereditary pancreatitis Panel

Germany.

By Labor Dr. Wisplinghoff Hereditary pancreatitis that also includes the following genes: SPINK1 CFTR CTRC PRSS1

More info about this panel
Germany.

Phosphorus Pancreatic Cancer including Chronic Pancreatitis Genes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pancreatic Cancer including Chronic Pancreatitis Genes Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 SPINK1 STK11 EPCAM TP53 TSC1 TSC2 VHL

More info about this panel
United States.

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel
United States.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

Pancreatic Cancer: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pancreatic Cancer: Gene Deletion/Duplication Panel that also includes the following genes: BRCA1 BRCA2 STK11 EPCAM TP53 VHL CDKN2A PALB2 APC MLH1

More info about this panel
Canada.

Pancreatic Cancer: Gene Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pancreatic Cancer: Gene Sequencing Panel that also includes the following genes: BRCA1 BRCA2 STK11 TP53 VHL CDKN2A PALB2 APC MLH1 MSH2

More info about this panel
Canada.

Pancreatitis: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pancreatitis: gene sequencing panel that also includes the following genes: SPINK1 CFTR CTRC PRSS1

More info about this panel
Canada.

PancreasDx Panel

United States.

By Ariel Precision Medicine PancreasDx that also includes the following genes: SPINK1 SLC26A9 CASR UBR1 CEL CFTR SBDS CLDN2 CTRC GGT1

More info about this panel
United States.

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