A form of diazoxide-sensitive diffuse hyperinsulinism characterised by hypoglycaemic episodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations.
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Concept Alternate Designations
SDO Designation ID
Concept Designation Description
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Code Flag
3308269015
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency
Active
Synonym
false
false
3308270019
Autosomal dominant hyperinsulinism due to sulphonylurea receptor 1 deficiency
Active
Synonym
false
false
3308271015
Autosomal dominant hyperinsulinism due to SUR1 deficiency