Carboxypeptidase N deficiency

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.

Also known as carboxypeptidase N deficiency — per MONDO

Also identified as

• DOID 0111583 per MONDO
• ICD9 279.8 per MONDO
• MESH C562876 per MONDO
• NCIT C132196 per MONDO
• OMIM 212070 per MONDO
• SCTID 234627009 per MONDO
• UMLS C0398782 per MONDO