Term Name: carboxypeptidase N deficiency
Synonyms: anaphylotoxin inactivator deficiency, deficiency of carboxypeptidase B
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.
Ontology: Human Disease [DOID:0111583]   ( DOID:0111583 )

Relationships
is a type of: autosomal recessive disease plasma protein metabolism disease