Details of Disease | DrugMAP

General Information of Disease (ID: DISG8994)

Disease Name	Hypoglycemia, leucine-induced
Synonyms	LIH; hypoglycemia leucine-induced; familial infantile hypoglycemia precipitated by leucine; hypoglycemia leucine induced; leucine-sensitive hypoglycemia of infancy; hypoglycemia of infancy, leucine-sensitive; hypoglycemia, leucine-induced
Disease Hierarchy	DISYKSRF: Genetic disease DISG8994: Hypoglycemia, leucine-induced
Disease Identifiers	MONDO ID MONDO_0009415 MESH ID C537150 UMLS CUI C0271714 OMIM ID 240800 MedGen ID 82888 SNOMED CT ID 62151007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCC8	TTP835K	moderate	Genetic Variation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC8	DTI58LU	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCC8	OTCWQ54I	Strong	Autosomal dominant	[2]
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References

1	Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor.J Clin Endocrinol Metab. 2004 Sep;89(9):4450-6. doi: 10.1210/jc.2004-0441.
2	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.