Details of Disease | DrugMAP

General Information of Disease (ID: DISM0NJG)

Disease Name	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Synonyms	hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form
Disease Hierarchy	DIS5DEVG: Hyperinsulinemic hypoglycemia, familial, 2 DISP2O1V: Diazoxide-resistant focal hyperinsulinism DISM0NJG: Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Disease Identifiers	MONDO ID MONDO_0017188 UMLS CUI C5191060 MedGen ID 1673560 Orphanet ID 276603 SNOMED CT ID 783741006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
KCNJ11	DTGZICY	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNJ11	OTPUUELV	Supportive	Autosomal recessive	[1]
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References

1	Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet J Rare Dis. 2011 Oct 3;6:63. doi: 10.1186/1750-1172-6-63.