CPND
MCID: CRB041
MIFTS: 20

Carboxypeptidase N Deficiency (CPND)

Categories: Genetic diseases

Aliases & Classifications for Carboxypeptidase N Deficiency

MalaCards integrated aliases for Carboxypeptidase N Deficiency:

Name: Carboxypeptidase N Deficiency 57 74 37 13 72
Cpnd 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
carboxypeptidase n deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 212070
KEGG 37 H01136
MedGen 42 C0398782
UMLS 72 C0398782

Summaries for Carboxypeptidase N Deficiency

KEGG : 37
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 cpnd, 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 heart, and related phenotype is angioedema.

UniProtKB/Swiss-Prot : 74 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:

32
# Description HPO Frequency HPO Source Accession
1 angioedema 32 HP:0100665

Symptoms via clinical synopsis from OMIM:

57
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

Genetic Tests for Carboxypeptidase N Deficiency

Anatomical Context for Carboxypeptidase N Deficiency

MalaCards organs/tissues related to Carboxypeptidase N Deficiency:

41
Tongue, Heart

Publications for Carboxypeptidase N Deficiency

Articles related to Carboxypeptidase N Deficiency:

(show all 13)
# Title Authors PMID Year
1
DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency. 38 8 71
12560874 2003
2
Familial carboxypeptidase N deficiency. 38 8 71
7437116 1980
3
Deficiencies in regulator proteins. 4. Anaphylatoxin inactivator. 8
3562474 1986
4
Decreased synthesis of serum carboxypeptidase N (SCPN) in familial SCPN deficiency. 8
3958137 1986
5
Nano/micron particles released from newspapers under different reading conditions. 38
30235604 2019
6
Contrasting seasonal responses in dinitrogen fixation between shallow and deep-water colonies of the model coral Stylophora pistillata in the northern Red Sea. 38
29902263 2018
7
Myocardial tissue characterization in Chagas' heart disease by cardiovascular magnetic resonance. 38
26581396 2015
8
Dietary camphene attenuates hepatic steatosis and insulin resistance in mice. 38
23818423 2014
9
Major carboxypeptidase N deficiency. 38
18068674 2008
10
Useful effect size interpretations for single case research. 38
17292698 2007
11
Disease adaptation may have decreased quality-of-life responsiveness in patients with chronic progressive neurological disorders. 38
15528054 2004
12
Cloning and characterization of a gene cluster involved in cyclopentanol metabolism in Comamonas sp. strain NCIMB 9872 and biotransformations effected by Escherichia coli-expressed cyclopentanone 1,2-monooxygenase. 38
12406764 2002
13
[Thermal properties of collagen-water system. 1. Increments of heat capacity during denaturation and glass transition]. 38
9181803 1997

Variations for Carboxypeptidase N Deficiency

ClinVar genetic disease variations for Carboxypeptidase N Deficiency:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CPN1 CPN1, 1-BP INS, 385G insertion Pathogenic
2 CPN1 NM_001308.3(CPN1): c.533G> A (p.Gly178Asp) single nucleotide variant Benign rs61751507 10:101829514-101829514 10:100069757-100069757

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

74
# 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....