OBO ID: DOID:0111583
Term Name: carboxypeptidase N deficiency Search Ontology:
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 CPN1 on chromosome 10q24.2. (2)
References:
Ontology: Human Disease   (DOID:0111583)
OTHER carboxypeptidase N deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CPN1 Carboxypeptidase N deficiency 212070
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None