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.
Clinical Features
Phenotypes and symptoms related to Carboxypeptidase N Deficiency
- Fever
- Asthma
- Urticaria
- Allergic rhinitis
- Angioedema
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Carboxypeptidase N Deficiency Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 CPN1.
By Fulgent Genetics Fulgent Genetics (United States).
CPN1
Specificity
100 %
Genes
100 % |
You can get up to -7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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