Details of Disease

General Information of Disease (ID: DISLXSXT)

• Disease Name: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• Synonyms: autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency; dominant KATP hyperinsulinism due to Kir6.2 deficiency
• Definition: Autosomal dominant hyperinsulinism due to Kir6.2 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, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).
• Disease Hierarchy:
  DISOEYSO: Diazoxide-sensitive diffuse hyperinsulinism
  DIS5DEVG: Hyperinsulinemic hypoglycemia, familial, 2
  DISLXSXT: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0017185
  UMLS CUI: C4274081
  MedGen ID: 903936
  Orphanet ID: 276580
  SNOMED CT ID: 717045004

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
KCNJ11	TT329V4	moderate	GermlineCausalMutation	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
KCNJ11	DTGZICY	Supportive	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNJ11	OTPUUELV	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] Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Invest. 2008 Aug;118(8):2877-86. doi: 10.1172/JCI35414.