CARBOXYPEPTIDASE N DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 212070
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000951) Abnormality of the skin 147 / 7739
2
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(OMIM) Carboxypeptidase N deficiency 1 / 7739
5
(OMIM) Angioedema, face, tongue, limbs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Carboxypeptidase N is a serum alpha globulin metalloenzyme that inactivates C3a, C4a, C5a, bradykinin, kallidin, and fibrinopeptides. Mathews et al. (1980) found a low level of this enzyme (21% of normal) in a 65-year-old man with an 11-year ...
Molecular genetics OMIM By sequencing the CPN1 gene in genomic DNA extracted from cells of the index patient reported by Mathews et al. (1980), Cao and Hegele (2003) demonstrated that the allergic manifestations in this family were due to presumed compound ...