SUR1-Associated Diabetes Mellitus

**Semantic type:** Disease or Syndrome

**Definition:** Diabetes mellitus caused by activating mutation(s) in the ABCC8 gene, encoding the sulfonylurea receptor 1 (SUR1) subunit of the pancreatic beta cell adenosine triphosphate-sensitive potassium channel. Note: Inactivating mutation(s) in the ABCC8 gene result in hyperinsulinism.