Details of Disease

General Information of Disease (ID: DISHNQUZ)

• Disease Name: Hyperinsulinism due to glucokinase deficiency
• Synonyms: hyperinsulinemic hypoglycemia, familial, 3; HHF3; hyperinsulinemic hypoglycemia familial 3; hyperinsulinemic hypoglycemia, familial, type 3; hyperinsulinemic hypoglycemia due to glucokinase deficiency
• Definition: Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.
• Disease Hierarchy:
  DISOEYSO: Diazoxide-sensitive diffuse hyperinsulinism
  DIS30PPZ: Disorder of glycolysis
  DISHNQUZ: Hyperinsulinism due to glucokinase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0011236
  MESH ID: C538374
  UMLS CUI: C1865290
  OMIM ID: 602485
  MedGen ID: 355435
  Orphanet ID: 79299

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GCK	TTDLNGZ	Strong	Genetic Variation	[1]
GCK	TTDLNGZ	Definitive	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GCK	OTR3Q0NN	Definitive	Autosomal dominant	[2]

References

• [1] Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.Clin Endocrinol (Oxf). 2017 Jun;86(6):778-783. doi: 10.1111/cen.13318. Epub 2017 Mar 27.
• [2] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.