CHRM3 encodes cholinergic receptor muscarinic 3 (590 aa). The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Highest expression in Esophagus Muscularis (12.4 TPM) and Esophagus Gastroesophageal Junction (11.2 TPM).

Prune belly syndrome is associated with mutations in the CHRM3 gene on chromosome 1.

CHRM3 is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 1.4.

Genetic testing for CHRM3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for prune belly syndrome has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 1 common feature.

Estimated prevalence: Unknown (Unknown prevalence).

1 clinical trial registered. Interventions under study include procedural interventions. Research is primarily sponsored by academic and government institutions.

167 publications have been identified in PubMed for prune belly syndrome. Research spans Review / Meta-Analysis (54%), Case Report / Case Series (19%), and Basic Science / Preclinical (11%).

Recent Publications

• Chu E (2026). [PMID: 41719823](https://pubmed.ncbi.nlm.nih.gov/41719823/). *J Pediatr Urol*. [Case Report / Case Series]

• Nayak M (2026). [PMID: 41667200](https://pubmed.ncbi.nlm.nih.gov/41667200/). *BMJ Case Rep*. [Case Report / Case Series]

• Sebode M (2026). [PMID: 41432137](https://pubmed.ncbi.nlm.nih.gov/41432137/). *Curr Opin Gastroenterol*. [Review / Meta-Analysis]

• Avelino-Silva TJ (2026). [PMID: 41591773](https://pubmed.ncbi.nlm.nih.gov/41591773/). *JAMA Netw Open*. [Epidemiology / Natural History]

• Buel KL (2026). [PMID: 41569909](https://pubmed.ncbi.nlm.nih.gov/41569909/). *FP Essent*. [Review / Meta-Analysis]

• Braz Ascar PC (2026). [PMID: 42055902](https://pubmed.ncbi.nlm.nih.gov/42055902/). *J Pediatr Urol*. [Case Report / Case Series]

• Sayyed Ahmad M (2026). [PMID: 41625586](https://pubmed.ncbi.nlm.nih.gov/41625586/). *Radiol Case Rep*. [Case Report / Case Series]

• Sati DM (2026). [PMID: 42185115](https://pubmed.ncbi.nlm.nih.gov/42185115/). *J Pediatr Urol*. [Other]

• Archambeaud A (2026). [PMID: 41056436](https://pubmed.ncbi.nlm.nih.gov/41056436/). *Rheumatology (Oxford)*. [Review / Meta-Analysis]

• Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Diagnostic / Biomarker]