CPA1 gene related symptoms and diseases

All the information presented here about the CPA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CPA1 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 CPA1 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.

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Rare diseases associated to CPA1 gene

Here you will find a list of rare diseases related to the CPA1. 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 CPA1 gene

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

Chronic Hereditary Pancreatitis via CPA1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CPA1 gene.

More info about this panel

CPA1 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the CPA1 gene.

More info about this panel

CPA1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CPA1 gene.

More info about this panel

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


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