Type of disease: Rare conditions
Pancreatic agenesis is a rare condition that occurs when the pancreas fails to develop before birth. The severity depends on how much functional pancreatic tissue is present. Children with this condition usually have permanent neonatal diabetes mellitus due to a lack of insulin. Pancreatic agenesis can also be associated with abnormalities in other parts of the body. Mutations in the GATA6, PDX1, and PTF1A genes have been found to cause pancreatic agenesis. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.