- Decreased circulating carboxypeptidase N activity (HP:6000560): Activity of the enzyme Carboxypeptidase N (arginine carboxypeptidase, EC 3.4.17.3) in the blood circulation below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:12560874)
- Urticaria (HP:0001025): Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. Evidence: PCS. (PMID:12560874)
- Angioedema (HP:0100665): Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis. Evidence: PCS. (PMID:12560874)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:12560874)
- Allergic rhinitis (HP:0003193): It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea. Evidence: PCS. (PMID:12560874)
These phenotypes are associated with the disease carboxypeptidase N deficiency (OMIM:212070).