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  • Partial agenesis of the pancreas is an absence of a critical mass of pancreatic tissue. It is a rare disorder with only around 50 cases being reported in the literature so far. The severity of the disease depends on the amount of functional pancreatic tissue present. Pancreatic agenesis is commonly associated with other malformations, in particular pancreaticobiliary duct anomalies or more rarely, polysplenia. In the majority of cases, patients are diagnosed after reporting abdominal pain. Agenesis of the dorsal pancreas usually manifests as diabetes. Pancreatic agenesis has been associated with mutations in the PDX1 gene (13q12.1), which encodes the insulin promoter factor-1 (IPF-1) transcription factor.
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