carboxypeptidase N deficiency
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.
MONDO:0003847
hereditary disease
is_a
carboxypeptidase N deficiency
exact