1. Mendelian
  2. Rare Disease Genes
  3. PRSS2

PRSS2 gene related symptoms and diseases

All the information presented here about the PRSS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to PRSS2 gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Steatorrhea Very Common - Between 80% and 100% cases
Chronic calcifying pancreatitis Very Common - Between 80% and 100% cases
Pancreatic pseudocyst Very Common - Between 80% and 100% cases
Pancreatic calcification Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PRSS2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Abnormal enzyme/coenzyme activity
  • Recurrent pancreatitis
  • Portal vein thrombosis
  • Chronic pancreatitis
  • Elevated C-reactive protein level
  • Abnormal thrombosis
  • Peritonitis
  • Neoplasm of the pancreas

And 18 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PRSS2 gene

Here you will find a list of rare diseases related to the PRSS2. 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


Potential gene panels for PRSS2 gene

Pancreatitis, chronic, protection against Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PRSS2 gene.

More info about this panel
Germany.

PRSS2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PRSS2 gene.

More info about this panel
United States.

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.

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.

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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