Details of Disease | DrugMAP

General Information of Disease (ID: DIS9LK5R)

Disease Name	Hyperinsulinism due to UCP2 deficiency
Synonyms	hyperinsulinemic hypoglycemia due to UCP2 deficiency
Definition	HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.
Disease Hierarchy	DISOEYSO: Diazoxide-sensitive diffuse hyperinsulinism DIS9LK5R: Hyperinsulinism due to UCP2 deficiency
Disease Identifiers	MONDO ID MONDO_0017183 UMLS CUI C4303082 MedGen ID 928751 Orphanet ID 276556 SNOMED CT ID 721834007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UCP2	OTA556MK	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
UCP2	TTSC2YM	moderate	GermlineCausalMutation	[2]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
UCP2	DTNYBG7	Supportive	Autosomal dominant	[1]
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References

1	Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. PLoS One. 2008;3(12):e3850. doi: 10.1371/journal.pone.0003850. Epub 2008 Dec 9.
2	Molecular mechanisms of congenital hyperinsulinism.J Mol Endocrinol. 2015 Apr;54(2):R119-29. doi: 10.1530/JME-15-0016. Epub 2015 Mar 2.