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

SOURCES: MESH OMIM


Potential gene panels for CPN1 gene

CPN1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CPN1 gene.

More info about this panel


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