MCID: DRG023
MIFTS: 6

Drug Metabolism, Altered, Ces1-Related

Categories: Genetic diseases, Metabolic diseases

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

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

Name: Drug Metabolism, Altered, Ces1-Related 58 6

Classifications:



External Ids:

OMIM 58 618057

Summaries for Drug Metabolism, Altered, Ces1-Related

OMIM : 58 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)

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

Diseases in the Drug Metabolism, Altered, Cyp2c8-Related family:

Drug Metabolism, Altered, Ces1-Related

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

Clinical features from OMIM:

618057

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

Variations for Drug Metabolism, Altered, Ces1-Related

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CES1 NM_001025195.1(CES1): c.428G> A (p.Gly143Glu) single nucleotide variant Pathogenic rs121912777 GRCh37 Chromosome 16, 55857573: 55857573
2 CES1 NM_001025195.1(CES1): c.428G> A (p.Gly143Glu) single nucleotide variant Pathogenic rs121912777 GRCh38 Chromosome 16, 55823661: 55823661
3 CES1 NM_001025195.1(CES1): c.783del (p.Asp261Glufs) deletion Pathogenic GRCh38 Chromosome 16, 55820390: 55820390
4 CES1 NM_001025195.1(CES1): c.783del (p.Asp261Glufs) deletion Pathogenic GRCh37 Chromosome 16, 55854302: 55854302

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

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75 UMLS via Orphanet
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