carboxypeptidase N deficiency (DOID:0111583)
Alliance: disease page
Synonyms: anaphylotoxin inactivator deficiency; deficiency of carboxypeptidase B
Alt IDs: OMIM:212070, MESH:C562876, NCI:C132196, UMLS_CUI:C0398782
Definition: A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2.