Details of Disease | DrugMAP

General Information of Disease (ID: DIS4XHXN)

Disease Name	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Synonyms	autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Disease Hierarchy	DIS5DEVG: Hyperinsulinemic hypoglycemia, familial, 2 DISNNPQJ: Diazoxide-resistant diffuse hyperinsulinism DIS4XHXN: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Disease Identifiers	MONDO ID MONDO_0019334 UMLS CUI C5191078 MedGen ID 1677653 Orphanet ID 79644 SNOMED CT ID 783768006

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	Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet. 1996 Nov;5(11):1809-12. doi: 10.1093/hmg/5.11.1809.