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Hyperinsulinemic hypoglycemia

MONDO:0005803

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.

Also known as: hyperinsulinemia hypoglycemia, hyperinsulinemic hypoglycemia (disease), nesidioblastosis

41 clinical trials for this condition and its sub-types.

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Sub-types

Familial hyperinsulinism (8) Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia (1) Hyperinsulinemic hypoglycemia, familial, 1 (1) Hyperinsulinemic hypoglycemia, familial, 2 (1) Hyperinsulinism-hyperammonemia syndrome (1) Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (0) Autosomal dominant hyperinsulinism due to SUR1 deficiency (0) Autosomal recessive hyperinsulinism due to Kir6.2 deficiency (0) Autosomal recessive hyperinsulinism due to SUR1 deficiency (0) Congenital isolated hyperinsulinism (0) Diazoxide-resistant diffuse hyperinsulinism (0) Diazoxide-resistant focal hyperinsulinism (0) Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency (0) Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency (0) Diazoxide-resistant hyperinsulinism (0) Diazoxide-sensitive diffuse hyperinsulinism (0) Exercise-induced hyperinsulinism (0) Hyperinsulinemic hypoglycemia, familial, 3 (0) Hyperinsulinemic hypoglycemia, familial, 4 (0) Hyperinsulinemic hypoglycemia, familial, 8 (0)

Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Endocrine system disorder (61) Inborn errors of metabolism (42) Human disease (14) Carbohydrate metabolism disease (3) Disease of genetic or genomic mechanism (2) Inborn carbohydrate metabolic disorder (2) Disease by body system or component (0)
Trials to join now! 22 Not yet recruiting 3 Not yet finished but already full! 8 Completed 8
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