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.
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
Search interest in CPA1
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 United States.
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 United States.
CPA1 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the CPA1 gene.
More info about this panel Germany.
CPA1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CPA1 gene.
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.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PCSK9 HADH ITGA7 RAD51B