Pancreatic Agenesis 1
Autosomal recessive
Caused by changes in both copies of PDX1, a master regulator of pancreas development and of insulin production. A change in a single copy can cause a form of diabetes known as MODY4.
Signs and symptoms
Diabetes from the newborn period, with slow growth before birth. When the pancreas does not form, or makes too few digestive enzymes, poor digestion of fat and other nutrients can occur.
What a diagnosis changes
Insulin treatment, pancreatic enzyme replacement where digestive enzymes are lacking, and checks of fat-soluble vitamin levels, with dietetic support. Carrier parents may be at risk of diabetes and can be offered screening. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.
Genes analysed
Also known as
PAGEN1; pancreatic agenesis caused by mutation in PDX1; PDX1 pancreatic agenesis
