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Anaphylotoxin inactivator deficiency

Synonyms
Carboxypeptidase N deficiency; Deficiency of carboxypeptidase B

Summary

Carboxypeptidase-N deficiency (CPND) is an autosomal recessive disorder characterized by episodic angioedema, acute or chronic urticaria, asthma, and/or allergic hypersensitivities such as hay fever. Homozygous individuals as well as their heterozygous family members have levels of carboxypeptidase N that are below the reference range, and heterozygotes are symptomatic, albeit to a generally milder degree (Mathews et al., 1980; Vincent et al., 2024). [from OMIM]

Available tests

5 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CPN, SCPN, CPN1
    Summary: carboxypeptidase N subunit 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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