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hyperinsulinemic hypoglycemia

Disease Summary
Associated Targets (12)
Tbio

5

Tchem

4

Tclin

3


Mondo Description An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11.
Disease Ontology Description A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
Mondo Term and Equivalent IDs
MONDO:0005803:  hyperinsulinemic hypoglycemia
EFO:0007318: 
SCTID:42681006: