Disease

Pancreatic agenesis and congenital heart defects1, 2

Gene

GATA6

Inheritance AD
Current Treatments Insulin, oral pancreatic enzymes
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test fecal elastase and pancreatic enzymes (pancreatic amylase and lipase) , imaging using abdominal ultrasonography, computed tomography, or magnetic resonance imaging2
Disease Frequency (per 100,000) 0.871
Genes Included in Disease Frequency ABCC8, GCK, INS, KCNJ11, SLC19A2, PDX1, GATA4, GATA6, PTF1A, EIF2AK3, GLIS3, RFX6, NEUROD1, NEUROG3, PAX4, WFS1, MNX1, NKX2-2, IER3IP1
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=gata6&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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