Features include common findings: Low HDL ("good") cholesterol (decreased hdl cholesterol concentration), Hypertriglyceridemia, Increased LDL cholesterol concentration, and Hypertension and others. 10 total HPO annotations.

CELA2A encodes chymotrypsin like elastase 2A (269 aa). Elastase that enhances insulin signaling and might have a physiologic role in cellular glucose metabolism. Highest expression in Pancreas (5,128 TPM) and Adrenal Gland (2.1 TPM).

Abdominal obesity-metabolic syndrome 4 is associated with mutations in the CELA2A gene on chromosome 1.

The CELA2A protein participates in CELA2A propeptide and Pancreatic pro-acinar cell produces pancreatic acinar cell pathways.

CELA2A is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 0.0.

Genetic testing for CELA2A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for abdominal obesity-metabolic syndrome 4 has been reported in the published literature.

Phenotype severity distribution: 6 common features.

No clinical trials have been registered for abdominal obesity-metabolic syndrome 4.

5 publications have been identified in PubMed for abdominal obesity-metabolic syndrome 4. Research spans Diagnostic / Biomarker (40%), Basic Science / Preclinical (40%), and Case Report / Case Series (20%).

Recent Publications

• Marrone N (2025). [PMID: 41095709](https://pubmed.ncbi.nlm.nih.gov/41095709/). *Diagnostics (Basel, Switzerland)*. [Diagnostic / Biomarker]

• Chen L (2025). [PMID: 41025730](https://pubmed.ncbi.nlm.nih.gov/41025730/). *Advanced science (Weinheim, Baden-Wurttemberg, Germany)*. [Diagnostic / Biomarker]

• Nankova BB (2025). [PMID: 40693139](https://pubmed.ncbi.nlm.nih.gov/40693139/). *Frontiers in microbiology*. [Basic Science / Preclinical]

• Larson CIW (2025). [PMID: 40652086](https://pubmed.ncbi.nlm.nih.gov/40652086/). *Scientific reports*. [Basic Science / Preclinical]

• Radi S (2024). [PMID: 39108603](https://pubmed.ncbi.nlm.nih.gov/39108603/). *JCEM case reports*. [Case Report / Case Series]