CPND
MCID: CRB041
MIFTS: 24

Carboxypeptidase N Deficiency (CPND)

Categories: Genetic diseases, Immune diseases, Metabolic diseases

Aliases & Classifications for Carboxypeptidase N Deficiency

MalaCards integrated aliases for Carboxypeptidase N Deficiency:

Name: Carboxypeptidase N Deficiency 56 12 73 36 13 43 15 39 71
Anaphylotoxin Inactivator Deficiency 12 29 6
Deficiency of Carboxypeptidase B 12
Cpnd 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
carboxypeptidase n deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111583
OMIM 56 212070
KEGG 36 H01136
MeSH 43 C562876
NCIt 49 C132196
SNOMED-CT 67 124493003
MedGen 41 C0398782
SNOMED-CT via HPO 68 258211005 400075008 41291007
UMLS 71 C0398782

Summaries for Carboxypeptidase N Deficiency

KEGG : 36 Carboxypeptidase N (CPN) is a plasma zinc metalloprotease that inactivates C3a, C4a, C5a, bradykinin, kalladin, and fibrinopeptides. CPN has been implicated as a major regulator of inflammation. Although deficiency of CPN produces a severe allergic syndrome, there are no reported cases of complete deficiency of CPN in humans. There are a few documented cases of partial CPN deficiency. Patients present some combination of angioedema or chronic urticaria, as well as hay fever or asthma. It has been reported that mutations in CPN1, which encodes the catalytic subunit of CPN, cause CPN deficiency.

MalaCards based summary : Carboxypeptidase N Deficiency, also known as anaphylotoxin inactivator deficiency, is related to autoimmune disease and urticaria. An important gene associated with Carboxypeptidase N Deficiency is CPN1 (Carboxypeptidase N Subunit 1). Affiliated tissues include tongue, and related phenotype is angioedema.

Disease Ontology : 12 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 CPN1 on chromosome 10q24.2.

UniProtKB/Swiss-Prot : 73 Carboxypeptidase N deficiency: Patients affected present some combination of angioedema or chronic urticaria, as well as hay fever or asthma, and have also slightly depressed serum carboxy peptidase N, suggestive of autosomal recessive inheritance of this disorder.

More information from OMIM: 212070

Related Diseases for Carboxypeptidase N Deficiency

Diseases related to Carboxypeptidase N Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autoimmune disease 9.9
2 urticaria 9.9
3 angioedema 9.9
4 allergic encephalomyelitis 9.9

Symptoms & Phenotypes for Carboxypeptidase N Deficiency

Human phenotypes related to Carboxypeptidase N Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 angioedema 31 HP:0100665

Symptoms via clinical synopsis from OMIM:

56
Skin:
angioedema, face, tongue, limbs

Lab:
carboxypeptidase n deficiency

Clinical features from OMIM:

212070

Drugs & Therapeutics for Carboxypeptidase N Deficiency

Search Clinical Trials , NIH Clinical Center for Carboxypeptidase N Deficiency

Cochrane evidence based reviews: carboxypeptidase n deficiency

Genetic Tests for Carboxypeptidase N Deficiency

Genetic tests related to Carboxypeptidase N Deficiency:

# Genetic test Affiliating Genes
1 Anaphylotoxin Inactivator Deficiency 29 CPN1

Anatomical Context for Carboxypeptidase N Deficiency

MalaCards organs/tissues related to Carboxypeptidase N Deficiency:

40
Tongue

Publications for Carboxypeptidase N Deficiency

Articles related to Carboxypeptidase N Deficiency:

# Title Authors PMID Year
1
DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency. 61 56 6
12560874 2003
2
Familial carboxypeptidase N deficiency. 61 6 56
7437116 1980
3
Deficiencies in regulator proteins. 4. Anaphylatoxin inactivator. 56
3562474 1986
4
Decreased synthesis of serum carboxypeptidase N (SCPN) in familial SCPN deficiency. 56
3958137 1986
5
Major carboxypeptidase N deficiency. 61
18068674 2008

Variations for Carboxypeptidase N Deficiency

ClinVar genetic disease variations for Carboxypeptidase N Deficiency:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CPN1 CPN1, 1-BP INS, 385Ginsertion Pathogenic 6622
2 CPN1 NM_001308.3(CPN1):c.533G>A (p.Gly178Asp)SNV Benign 6623 rs61751507 10:101829514-101829514 10:100069757-100069757

UniProtKB/Swiss-Prot genetic disease variations for Carboxypeptidase N Deficiency:

73
# Symbol AA change Variation ID SNP ID
1 CPN1 p.Gly178Asp VAR_042415 rs61751507

Expression for Carboxypeptidase N Deficiency

Search GEO for disease gene expression data for Carboxypeptidase N Deficiency.

Pathways for Carboxypeptidase N Deficiency

GO Terms for Carboxypeptidase N Deficiency

Sources for Carboxypeptidase N Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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