Version: 8.0.0
Date: Tue Jan 28 2025
1 results
Disease Genes: CPN1 (Hsa)

carboxypeptidase N deficiency

Disease
Source: DOID:0111583
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.
Genes: CPN1 (Hsa)