GATA6 encodes GATA binding protein 6 (595 aa). Transcriptional activator. Regulates SEMA3C and PLXNA2. Involved in gene regulation specifically in the gastric epithelium. May regulate genes that protect epithelial cells from bacterial infection. Highest expression in Ovary (121.3 TPM) and Adrenal Gland (65.6 TPM).

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is associated with mutations in the GATA6 gene on chromosome 18.

The GATA6 protein participates in GATA6-AS1 lncRNA, Expression of GATA6 in cardiogenesis, and Expression of GATA6 in definitive endoderm pathways.

GATA6 is classified as a druggable target (Clinically Actionable, Transcription Factor, and Transcription Factor Complex categories) with score 13.1.

Genetic testing for GATA6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pancreatic hypoplasia-diabetes-congenital heart disease syndrome has been reported in the published literature.

Phenotype severity distribution: 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for pancreatic hypoplasia-diabetes-congenital heart disease syndrome.

111 publications have been identified in PubMed for pancreatic hypoplasia-diabetes-congenital heart disease syndrome. Research spans Review / Meta-Analysis (41%), Case Report / Case Series (22%), and Epidemiology / Natural History (19%).

Recent Publications

• Lang SH (2026). [PMID: 41610485](https://pubmed.ncbi.nlm.nih.gov/41610485/). *Mol Genet Metab*. [Basic Science / Preclinical]

• Zani GS (2026). [PMID: 41759469](https://pubmed.ncbi.nlm.nih.gov/41759469/). *Poult Sci*. [Basic Science / Preclinical]

• Benson AA (2026). [PMID: 41642670](https://pubmed.ncbi.nlm.nih.gov/41642670/). *Metab Syndr Relat Disord*. [Epidemiology / Natural History]

• Biasin M (2026). [PMID: 41703411](https://pubmed.ncbi.nlm.nih.gov/41703411/). *J Cardiovasc Med (Hagerstown)*. [Epidemiology / Natural History]

• Vujasinovic M (2026). [PMID: 41689768](https://pubmed.ncbi.nlm.nih.gov/41689768/). *United European Gastroenterol J*. [Review / Meta-Analysis]

• Perez K (2026). [PMID: 40344544](https://pubmed.ncbi.nlm.nih.gov/40344544/). *JCO Oncol Pract*. [Review / Meta-Analysis]

• Gunasekaran P (2026). [PMID: 41991422](https://pubmed.ncbi.nlm.nih.gov/41991422/). *Dis Mon*. [Review / Meta-Analysis]

• Tsai HJ (2026). [PMID: 41707782](https://pubmed.ncbi.nlm.nih.gov/41707782/). *Biomed J*. [Review / Meta-Analysis]

• Chen Z (2026). [PMID: 42192387](https://pubmed.ncbi.nlm.nih.gov/42192387/). *BMC Med*. [Epidemiology / Natural History]

• Parlatan C (2026). [PMID: 41870583](https://pubmed.ncbi.nlm.nih.gov/41870583/). *Pediatr Radiol*. [Case Report / Case Series]