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GENATLAS PHENOTYPE
last update : 30-06-2015
Symbol HHF1
Location 11p15.1
Name hyperinsulinemic hypoglycemia, familial, 1
Other name(s)
  • persistent hypoglycemia, hyperinsulinemic of infancy
  • hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia
  • nesidioblastosis of pancreas
  • congenital hyperinsulinism
    • Corresponding gene ABCC8 , KCNJ11
    Other symbol(s) PHHID1, CHI
    Main clinical features
  • familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels
  • brain damage from recurrent episodes of hypoglycemia may occur
  • two histologic groups of nesidioblastosis among cases of hyperinsulinemic hypoglycemia : group I had diffuse hyperplasia of the islets of Langerhans as well as nesidioblastosis; group II had more subtle nesidioblastosis alone
    • Genetic determination autosomal recessive
    autosomal dominant
    Prevalence ABCC8 or KCNJ11 defects were found in 82% of the CHI cases, PMID:20685672
    Function/system disorder metabolism/carbohydrates
    Type disease
    Gene product
    Name encoding the SUR1 and KIR6.2 subunits of the ATP-sensitive potassium (K(ATP)) channel.
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   abnormal protein/loss of function C terminal mutations in the most severe forms leading to the loss of KATP channels which resulting in a constitutive depolarization that allows voltage gated Ca2+ channels to open spontaneously, increasing the cytosolic Ca2+ levels enough to trigger continuous release of insulin uncoupling the electrical activity of beta-cells from their metabolic activity
    various types   abnormal protein/loss of function inactivating mutations cause congenital hyperinsulinism (CHI)
    Remark(s)
  • congenital hyperinsulinism (CHI) is characterised by an over secretion of insulin by the pancreatic β-cells. CHI patients are classified according to their responsiveness to diazoxide and to their histopathological diagnosis (either focal, diffuse or atypical forms). PMID:20685672
  • inactivating mutations cause congenital hyperinsulinism (CHI) (PMID: 21989597))