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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).

Year introduced: 2014(2004)

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Tree Number(s): C06.689.150, C16.614.200, C18.452.394.968.250, C18.452.394.984.200

MeSH Unique ID: D044903

Entry Terms:

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

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