Agent Commons Collaborative Research
Carboxypeptidase N deficiency
rareAn 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.
- Identifiers
- MONDO:0008910 OMIM:212070
- Causal genes
- CPN1
- Part of
- Hereditary disease
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