CARBOXYLESTERASE 1

General Information (adopted from Orphanet):

Synonyms, Signs: CARBOXYLESTERASE 1 DEFICIENCY, INCLUDED
CHOLESTEROL ESTER HYDROLASE, NEUTRAL, MACROPHAGE-DERIVED
CEH MONOCYTE ESTERASE DEFICIENCY, INCLUDED
CARBOXYLESTERASE 2, FORMERLY
MONOCYTE CARBOXYLESTERASE DEFICIENCY, INCLUDED
CARBOXYLESTERASE, LIVER
TRIACYLGLYCEROL HYDROLASE
CES2, FORMERLY
SERINE ESTERASE 1
CES1
TGH
SES1
Number of Symptoms 8
OrphanetNr:
OMIM Id: 114835
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001370) Rheumatoid arthritis 12 / 7739
2
 (HPO:0005550) Chronic lymphatic leukemia 5 / 7739
3
 (HPO:0002665) Lymphoma 60 / 7739
4
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
 (OMIM) CES1 deficiency reported in rheumatoid arthritis 1 / 7739
7
 (OMIM) Increased frequency of CES1 deficiency in non-Hodgkin lymphoma (NHL) and B-cell chronic lymphocytic leukemia (CLL) 1 / 7739
8
 (OMIM) Negative monocyte alpha-naphthylacetate and alpha-naphthylbutyrate esterase staining reactions 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mammalian liver carboxylesterases (CESs; EC 3.1.1.1) hydrolyze various xenobiotics and endogenous substrates with ester, thioester, or amide bonds and are thought to function mainly in drug metabolism and detoxication of harmful chemicals (Satoh, 1987). CES1 is also responsible ...
Molecular genetics OMIM During the course of a pharmacokinetic study of methylphenidate, which is widely used to treat attention-deficit/hyperactivity disorder (ADHD; 143465), Zhu et al. (2008) observed profoundly elevated MPH concentrations, distorted isomer dispositions, and increases in hemodynamic measures in a ...