Human genes for carboxypeptidase N deficiency
Carboxypeptidase N deficiency [DOID:0111583]
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 CPN1 on chromosome 10q24.2.
Synonyms: carboxypeptidase N deficiency, carboxypeptidase N deficiencies, DOID:0111583, anaphylotoxin inactivator deficiency, deficiency of carboxypeptidase B ...