carboxypeptidase N deficiency
Findings
No curated finding names carboxypeptidase N deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008910), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating carboxypeptidase N activityHPOHP:6000560
- 1 of 1 reported patient
- Allergic rhinitisHPOHP:0003193
- AngioedemaHPOHP:0100665
- UrticariaHPOHP:0001025
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CPN1HGNC:2312
- Limited · Illumina · Autosomal recessive · 2017
- Limited · G2P · Autosomal recessive · 2018
Where it sits
- A kind of