carboxypeptidase N deficiency

Term ID

DOID:0111583

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. (2)

References

• MESH:C562876
• NCI:C132196
• OMIM:212070
• SNOMEDCT_US_2023_03_01:234627009
• UMLS_CUI:C0398782

Ontology

Human Disease   ( DOID:0111583 )