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SUR1-Associated Diabetes Mellitus

MedGen UID:
1380999
•Concept ID:
C4331268
•
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. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSUR1-Associated Diabetes Mellitus

Supplemental Content

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