MCID: DRG023
MIFTS: 12

Drug Metabolism, Altered, Ces1-Related

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Drug Metabolism, Altered, Ces1-Related

MalaCards integrated aliases for Drug Metabolism, Altered, Ces1-Related:

Name: Drug Metabolism, Altered, Ces1-Related 57 6

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM® 57 618057

Summaries for Drug Metabolism, Altered, Ces1-Related

OMIM® : 57 Carboxylesterase-1 (114835) is a widely expressed serine esterase that is involved in the hydrolysis of multiple amide-containing and ester-containing endogenous and xenobiotic compounds including therapeutic agents such as methylphenidate, oseltamivir, angiotensin-converting enzyme inhibitors (e.g., trandolapril and temocapril), and anticancer drugs (e.g., capecitabin). In addition, CES1 is the primary enzyme responsible for metabolizing clopidogrel and its derivatives (summary by Lewis et al., 2013). (618057) (Updated 20-May-2021)

MalaCards based summary : Drug Metabolism, Altered, Ces1-Related An important gene associated with Drug Metabolism, Altered, Ces1-Related is CES1 (Carboxylesterase 1).

Related Diseases for Drug Metabolism, Altered, Ces1-Related

Symptoms & Phenotypes for Drug Metabolism, Altered, Ces1-Related

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Metabolic Features:
altered metabolism of methylphenidate, oseltamivir, angiotensin-converting enzyme inhibitors (e.g., trandolapril and temocapril), anticancer drugs (e.g., capecitabin), and clopidogrel and its derivatives

Laboratory Abnormalities:
negative monocyte alpha-naphthylacetate and alpha-naphthylbutyrate esterase staining reactions

Clinical features from OMIM®:

618057 (Updated 20-May-2021)

Drugs & Therapeutics for Drug Metabolism, Altered, Ces1-Related

Search Clinical Trials , NIH Clinical Center for Drug Metabolism, Altered, Ces1-Related

Genetic Tests for Drug Metabolism, Altered, Ces1-Related

Anatomical Context for Drug Metabolism, Altered, Ces1-Related

Publications for Drug Metabolism, Altered, Ces1-Related

Articles related to Drug Metabolism, Altered, Ces1-Related:

# Title Authors PMID Year
1
Dabigatran etexilate activation is affected by the CES1 genetic polymorphism G143E (rs71647871) and gender. 57 6
27614009 2016
2
Sacubitril Is Selectively Activated by Carboxylesterase 1 (CES1) in the Liver and the Activation Is Affected by CES1 Genetic Variation. 6 57
26817948 2016
3
The functional G143E variant of carboxylesterase 1 is associated with increased clopidogrel active metabolite levels and greater clopidogrel response. 57 6
23111421 2013
4
Two CES1 gene mutations lead to dysfunctional carboxylesterase 1 activity in man: clinical significance and molecular basis. 57 6
18485328 2008
5
The impact of CES1 genotypes on the pharmacokinetics of methylphenidate in healthy Danish subjects. 57
28087982 2017
6
Monocyte esterase? A factor involved in the pathogenesis of lymphoproliferative neoplasia. 57
3669745 1987
7
Hereditary monocyte esterase deficiency. 57
3718875 1986

Variations for Drug Metabolism, Altered, Ces1-Related

ClinVar genetic disease variations for Drug Metabolism, Altered, Ces1-Related:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CES1 NM_001025195.2(CES1):c.428G>A (p.Gly143Glu) SNV Pathogenic 17602 rs121912777 GRCh37: 16:55857573-55857573
GRCh38: 16:55823661-55823661
2 CES1 NM_001025195.2(CES1):c.783del (p.Asp261fs) Deletion Pathogenic 17603 rs778068631 GRCh37: 16:55854302-55854302
GRCh38: 16:55820390-55820390
3 CES1 NM_001025195.2(CES1):c.862C>T (p.Arg288Ter) SNV Pathogenic 1032546 GRCh37: 16:55853491-55853491
GRCh38: 16:55819579-55819579

Expression for Drug Metabolism, Altered, Ces1-Related

Search GEO for disease gene expression data for Drug Metabolism, Altered, Ces1-Related.

Pathways for Drug Metabolism, Altered, Ces1-Related

GO Terms for Drug Metabolism, Altered, Ces1-Related

Sources for Drug Metabolism, Altered, Ces1-Related

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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