Details of Disease | DrugMAP

General Information of Disease (ID: DISICZZL)

Disease Name	Hyperinsulinism due to INSR deficiency
Synonyms	HHF5; hyperinsulinemic hypoglycemia, familial, 5; hyperinsulinemic hypoglycemia due to insulin receptor deficiency; hyperinsulinemic hypoglycemia, familial, type 5; hyperinsulinemic hypoglycemia due to INSR deficiency
Definition	Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.
Disease Hierarchy	DISHQKQE: Familial hyperinsulinism DISICZZL: Hyperinsulinism due to INSR deficiency
Disease Identifiers	MONDO ID MONDO_0012381 MESH ID C566494 UMLS CUI C1864952 OMIM ID 609968 MedGen ID 355335 Orphanet ID 263458

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
INSR	TTCBFJO	Strong	Autosomal dominant	[1]
INSR	TTCBFJO	Strong	GermlineCausalMutation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
INSR	OTTY341H	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2	A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. Diabetes. 2004 Jun;53(6):1592-8. doi: 10.2337/diabetes.53.6.1592.