PDX1-Associated Monogenic Diabetes

**Semantic type:** Disease or Syndrome

**Definition:** Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes.

**Synonyms:** - MODY4 - Maturity Onset Diabetes of the Young, Type 4