Details of Disease | DrugMAP

General Information of Disease (ID: DISYA73V)

Disease Name	Carboxypeptidase N deficiency
Synonyms	carboxypeptidase N deficiency
Definition	An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity.
Disease Hierarchy	DISYKSRF: Genetic disease DISYA73V: Carboxypeptidase N deficiency
Disease Identifiers	MONDO ID MONDO_0008910 MESH ID C562876 UMLS CUI C0398782 OMIM ID 212070 MedGen ID 98312 SNOMED CT ID 124493003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CPN1	TT8V2KD	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CPN1	DEPWYLT	Limited	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CPN1	OTKXIFI6	Limited	Autosomal recessive	[2]
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References

1	DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency. J Hum Genet. 2003;48(1):20-2. doi: 10.1007/s100380300003.
2	Targeted disruption of the gene encoding the murine small subunit of carboxypeptidase N (CPN1) causes susceptibility to C5a anaphylatoxin-mediated shock. J Immunol. 2009 May 15;182(10):6533-9. doi: 10.4049/jimmunol.0804207.