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carboxypeptidase N deficiency

Disease Summary
Associated Targets (1)
Tchem

1


Mondo 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.
Uniprot Description Patients affected present some combination of angioedema or chronic urticaria, as well as hay fever or asthma, and have also slightly depressed serum carboxy peptidase N, suggestive of autosomal recessive inheritance of this disorder.
Mondo Term and Equivalent IDs
MONDO:0008910:  carboxypeptidase N deficiency
DOID:0111583: 
MESH:C562876: 
NCIT:C132196: 
SCTID:234627009: 
UMLS:C0398782: