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DRUG METABOLISM, ALTERED, CES1-RELATED

MedGen UID:
1648492
Concept ID:
C4748035
Finding
Gene (location): CES1 (16q12.2)
 
OMIM®: 618057

Definition

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). [from OMIM]

Clinical features

From HPO
Abnormal drug response
MedGen UID:
1690735
Concept ID:
C5209254
Finding
An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy.

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