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Metadata
ID DOID:0111583
Name carboxypeptidase N deficiency
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.
https://www.ncbi.nlm.nih.gov/pubmed/12560874, https://www.ncbi.nlm.nih.gov/pubmed/7437116
Xrefs

MESH:C562876

NCI:C132196

OMIM:212070

SNOMEDCT_US_2023_03_01:234627009

UMLS_CUI:C0398782

Subsets

NCIthesaurus

Synonyms

anaphylotoxin inactivator deficiency [EXACT]

deficiency of carboxypeptidase B [EXACT]

Parent Relationships

is_a plasma protein metabolism disease

is_a autosomal recessive disease

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