CPND
MCID: CRB041
MIFTS: 14

Carboxypeptidase N Deficiency (CPND)

Categories: Genetic diseases

Aliases & Classifications for Carboxypeptidase N Deficiency

MalaCards integrated aliases for Carboxypeptidase N Deficiency:

Name: Carboxypeptidase N Deficiency 58 76 38 13 74
Cpnd 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
carboxypeptidase n deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 212070
KEGG 38 H01136
MedGen 43 C0398782
SNOMED-CT via HPO 70 258211005 400075008 41291007
UMLS 74 C0398782

Summaries for Carboxypeptidase N Deficiency

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Carboxypeptidase N Deficiency, also known as cpnd, is related to allergic encephalomyelitis. An important gene associated with Carboxypeptidase N Deficiency is CPN1 (Carboxypeptidase N Subunit 1). Affiliated tissues include tongue, and related phenotype is angioedema.

Description 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 allergic encephalomyelitis 9.9

Symptoms & Phenotypes for Carboxypeptidase N Deficiency

Human phenotypes related to Carboxypeptidase N Deficiency:

33
# Description HPO Frequency HPO Source Accession
1 angioedema 33 HP:0100665

Symptoms via clinical synopsis from OMIM:

58
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:

42
Tongue

Publications for Carboxypeptidase N Deficiency

Articles related to Carboxypeptidase N Deficiency:

# Title Authors Year
1
Major carboxypeptidase N deficiency. ( 18068674 )
2008
2
DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency. ( 12560874 )
2003
3
Familial carboxypeptidase N deficiency. ( 7437116 )
1980

Variations for Carboxypeptidase N Deficiency

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

76
# Symbol AA change Variation ID SNP ID
1 CPN1 p.Gly178Asp VAR_042415 rs61751507

ClinVar genetic disease variations for Carboxypeptidase N Deficiency:

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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