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Disease Ontology Browser
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
02/20/2024
MGI 6.23
The Jackson Laboratory