ZFIN Human Disease: carboxypeptidase N deficiency

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 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 )

Relationships

is a type of:	autosomal recessive disease plasma protein metabolism disease autosomal recessive disease plasma protein metabolism disease Show first 5 Terms

OTHER carboxypeptidase N deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CPN1	cpn1	Carboxypeptidase N deficiency	212070

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None