MCID: CRB041
MIFTS: 16

Carboxypeptidase N Deficiency

Categories: Genetic diseases

Aliases & Classifications for Carboxypeptidase N Deficiency

MalaCards integrated aliases for Carboxypeptidase N Deficiency:

Name: Carboxypeptidase N Deficiency 57 75 37 13 73
Cpnd 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
carboxypeptidase n deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 212070
MedGen 42 C0398782
KEGG 37 H01136
SNOMED-CT via HPO 69 258211005 199879009 95320005
UMLS 73 C0398782

Summaries for Carboxypeptidase N Deficiency

UniProtKB/Swiss-Prot : 75 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 skin, and related phenotypes are abnormality of the skin and abnormality of metabolism/homeostasis

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 9.8

Symptoms & Phenotypes for Carboxypeptidase N Deficiency

Symptoms via clinical synopsis from OMIM:

57
Skin:
angioedema, face, tongue, limbs

Lab:
carboxypeptidase n deficiency


Clinical features from OMIM:

212070

Human phenotypes related to Carboxypeptidase N Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the skin 32 HP:0000951
2 abnormality of metabolism/homeostasis 32 HP:0001939

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, Skin

Publications for Carboxypeptidase N Deficiency

Articles related to Carboxypeptidase N Deficiency:

# Title Authors Year
1
Carboxypeptidase N-deficient mice present with polymorphic disease phenotypes on induction of experimental autoimmune encephalomyelitis. ( 24028840 )
2014
2
Major carboxypeptidase N deficiency. ( 18068674 )
2008
3
DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency. ( 12560874 )
2003
4
Familial carboxypeptidase N deficiency. ( 7437116 )
1980

Variations for Carboxypeptidase N Deficiency

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

75
# 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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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