OMIM®:
57
Abdominal obesity-metabolic syndrome-4 (AOMS4) is characterized by obesity, hypertension, and early-onset coronary artery disease. Most affected individuals meet the criteria for metabolic syndrome, including elevated triglyceride and low high-density lipoprotein levels, and type 2 diabetes (Esteghamat et al., 2019).
For a discussion of the genetic heterogeneity of abdominal obesity-metabolic syndrome, see AOMS1 (605552). (618620) (Updated 08-Dec-2022)
MalaCards based summary:
Abdominal Obesity-Metabolic Syndrome 4, is also known as aoms4. An important gene associated with Abdominal Obesity-Metabolic Syndrome 4 is CELA2A (Chymotrypsin Like Elastase 2A). Related phenotypes are hypertension and hypertriglyceridemia
UniProtKB/Swiss-Prot:
73
A form of abdominal obesity-metabolic syndrome, a disorder characterized by abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol, high blood pressure, and elevated fasting glucose levels. AOMS4 is an autosomal dominant disease. Patients manifest obesity, hypertension, early-onset coronary artery disease and type 2 diabetes.
Disease Ontology:
11
An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has material basis in heterozygous mutation in the CELA2A gene on chromosome 1p36.
