CPN1 gene related symptoms and diseases
All the information presented here about the CPN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CPN1 gene
Symptoms // Phenotype | % Cases |
---|---|
Fever | Very Common - Between 80% and 100% cases |
Asthma | Very Common - Between 80% and 100% cases |
Urticaria | Very Common - Between 80% and 100% cases |
Allergic rhinitis | Very Common - Between 80% and 100% cases |
Angioedema | Very Common - Between 80% and 100% cases |
Rare diseases associated to CPN1 gene
Here you will find a list of rare diseases related to the CPN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CARBOXYPEPTIDASE N DEFICIENCY
Description
An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity.
Most common symptoms of CARBOXYPEPTIDASE N DEFICIENCY
- Fever
- Asthma
- Urticaria
- Allergic rhinitis
- Angioedema
More info about CARBOXYPEPTIDASE N DEFICIENCY
Search interest in CPN1
Potential gene panels for CPN1 gene
CPN1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CPN1 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EFNB1 HBD SPG34 GHR CDHR1 DTNA MOCOS