Heart Defects, Congenital, and other Congenital Anomalies
OMIM number: 600001
Comments closing date: 08/05/2026
GATA6 gene changes can affect the development of the heart and other organs. In the heart, these changes can cause structural problems such as holes between the chambers (atrial or atrioventricular septal defects), abnormalities of the main arteries (persistent truncus arteriosus), or a combination of defects like tetralogy of Fallot. The pancreas may also be affected, leading to early-onset diabetes, sometimes developing in infancy or childhood. Other organs may also be affected. Common issues include an underactive thyroid (hypothyroidism), problems with the liver or gallbladder (such as missing gallbladder or blocked bile ducts), and digestive system problems, most often congenital hernias. The severity and combination of these features can vary from person to person, even in the same family.
