Details of Disease

General Information of Disease (ID: DISGMI3Q)

• Disease Name: Autosomal dominant hyperinsulinism due to SUR1 deficiency
• Synonyms: autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
• Definition: Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism).
• Disease Hierarchy:
  DISOEYSO: Diazoxide-sensitive diffuse hyperinsulinism
  DISGMI3Q: Autosomal dominant hyperinsulinism due to SUR1 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0017184
  UMLS CUI: C4274080
  MedGen ID: 900764
  Orphanet ID: 276575
  SNOMED CT ID: 717046003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCC8	TTP835K	moderate	GermlineCausalMutation	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC8	DTI58LU	Supportive	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCC8	OTCWQ54I	Supportive	Autosomal dominant	[2]

References

• [1] Molecular mechanisms of congenital hyperinsulinism.J Mol Endocrinol. 2015 Apr;54(2):R119-29. doi: 10.1530/JME-15-0016. Epub 2015 Mar 2.
• [2] Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest. 2000 Oct;106(7):897-906. doi: 10.1172/JCI9804.