Details of Disease | DrugMAP

General Information of Disease (ID: DIS5DEVG)

Disease Name	Hyperinsulinemic hypoglycemia, familial, 2
Synonyms	hyperinsulinemic hypoglycemia familial 2; hyperinsulinism, congenital; persistent hyperinsulinemic hypoglycemia of infancy; hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia; hyperinsulinemic hypoglycemia, persistent; nesidioblastosis; hyperinsulinism, familial; HHF2; hyperinsulinism, neonatal; KCNJ11 hyperinsulinemic hypoglycemia (disease); hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11; hyperinsulinemic hypoglycemia, familial, type 2; hyperinsulinemic hypoglycemia, familial, 2; hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Definition	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.
Disease Hierarchy	DIS1EPQ3: Congenital hyperinsulinism DIS3KP5D: Hyperinsulinemic hypoglycemia DIS5DEVG: Hyperinsulinemic hypoglycemia, familial, 2
Disease Identifiers	MONDO ID MONDO_0011153 UMLS CUI C2931833 OMIM ID 601820 MedGen ID 419173

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	Strong	Genetic Variation	[1]
GCK	TTDLNGZ	Strong	Biomarker	[2]
KCNJ11	TT329V4	Strong	Genetic Variation	[3]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
KCNJ11	DTGZICY	Definitive	Autosomal recessive	[4]
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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	Definitive	Autosomal recessive	[4]
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References

1	Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center.J Pediatr Endocrinol Metab. 2016 Oct 1;29(10):1187-1194. doi: 10.1515/jpem-2016-0103.
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	Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.Orphanet J Rare Dis. 2016 Dec 1;11(1):163. doi: 10.1186/s13023-016-0547-3.
4	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.