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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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:13317
EFO:0007318
SCTID:42681006
MONDO:0005803
High level summary of knowledge for a disease, including descriptions and datasource references.