Details of Disease | DrugMAP

General Information of Disease (ID: DISZXJA3)

Disease Name	Autosomal recessive hyperinsulinism due to SUR1 deficiency
Synonyms	autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency
Disease Hierarchy	DIS5NBUS: Hyperinsulinemic hypoglycemia, familial, 1 DISNNPQJ: Diazoxide-resistant diffuse hyperinsulinism DISZXJA3: Autosomal recessive hyperinsulinism due to SUR1 deficiency
Disease Identifiers	MONDO ID MONDO_0019333 UMLS CUI C5191077 MedGen ID 1683144 Orphanet ID 79643 SNOMED CT ID 783767001

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
ABCC8	DTI58LU	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
ABCC8	OTCWQ54I	Supportive	Autosomal recessive	[1]
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References

1	Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. J Clin Endocrinol Metab. 2005 Feb;90(2):789-94. doi: 10.1210/jc.2004-1604. Epub 2004 Nov 23.