Details of Disease | DrugMAP

General Information of Disease (ID: DIS5NBUS)

Disease Name	Hyperinsulinemic hypoglycemia, familial, 1
Synonyms	hyperinsulinism, congenital; persistent hyperinsulinemic hypoglycemia of infancy; HHF1; hypoglycemia, hyperinsulinemic, of infancy; Nesidioblastosis of pancreas; hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia; hyperinsulinism, familial, with pancreatic Nesidioblastosis; hyperinsulinemic hypoglycemia, familial, 1; hyperinsulinemic hypoglycemia due to SUR1 deficiency; hyperinsulinemic hypoglycemia, familial, type 1; hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8; ABCC8 hyperinsulinemic hypoglycemia (disease)
Definition	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene.
Disease Hierarchy	DIS3KP5D: Hyperinsulinemic hypoglycemia DIS5NBUS: Hyperinsulinemic hypoglycemia, familial, 1
Disease Identifiers	MONDO ID MONDO_0009734 MESH ID D044903 UMLS CUI C2931832 OMIM ID 256450 MedGen ID 419505

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCC8	TTP835K	moderate	CausalMutation	[1]
GCK	TTDLNGZ	Strong	Biomarker	[2]
KCNJ11	TT329V4	Definitive	Biomarker	[3]
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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	Definitive	Semidominant	[4]
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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	Definitive	Semidominant	[4]
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References

1	Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia.Endocr Connect. 2018 Nov 12;7(12):1251-1261. doi: 10.1530/EC-18-0240.
2	Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.Diabetes. 2004 Aug;53(8):2164-8. doi: 10.2337/diabetes.53.8.2164.
3	Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.J Clin Endocrinol Metab. 2004 Dec;89(12):6224-34. doi: 10.1210/jc.2004-1233.
4	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.