Congenital Hyperinsulinism

A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).

Also Known As:

Familial Hyperinsulinemic Hypoglycemia 1; Familial Hyperinsulinism; Hyperinsulinemia Hypoglycemia of Infancy; Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia; Hyperinsulinemic Hypoglycemia, Familial, 1; Hyperinsulinemic Hypoglycemia, Familial, 2; Hyperinsulinemic Hypoglycemia, Persistent; Hyperinsulinism, Congenital; Hyperinsulinism, Familial; Hyperinsulinism, Neonatal; Hypoglycemia, Hyperinsulinemic, of Infancy; Infancy Hyperinsulinemia Hypoglycemia; Neonatal Hyperinsulinism; PHHI Hypoglycemia; Persistent Hyperinsulinemic Hypoglycemia; Congenital Hyperinsulinisms; Familial Hyperinsulinisms; Hyperinsulinemic Hypoglycemias, Persistent; Hyperinsulinisms, Congenital; Hyperinsulinisms, Familial; Hyperinsulinisms, Neonatal; Hypoglycemia, PHHI; Hypoglycemia, Persistent Hyperinsulinemic; Hypoglycemias, PHHI; Hypoglycemias, Persistent Hyperinsulinemic; Infancy Hyperinsulinemia Hypoglycemias; Neonatal Hyperinsulinisms; PHHI Hypoglycemias; Persistent Hyperinsulinemic Hypoglycemias; Persistent Hyperinsulinemia Hypoglycemia of Infancy

Digestive System Diseases: 1042
- Pancreatic Diseases: 1635
  - Congenital Hyperinsulinism: 516
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Diseases Newborn Infant: 266
  - Congenital Hyperinsulinism: 516
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Glucose Metabolism Disorders: 375
    - Hypoglycemia: 22833
      - Congenital Hyperinsulinism: 516
    - Hyperinsulinism: 9517
      - Congenital Hyperinsulinism: 516

autosomal recessive Hyperinsulinism

Disease Context: Research Results