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Condition report · Endocrine

Congenital Hyperinsulinism

Abnormally high levels of insulin in the blood.

A condition report looks for rare variants known to cause the conditions it covers.

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What your report covers

The 6 conditions we analyse

Hyperinsulinism

Abnormally high levels of insulin in the blood.

Genes analysed

Also known as

hyperinsulinism (disease)

Includes 22 related subtypes ↓
  • adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
  • autosomal dominant hyperinsulinism due to Kir6.2 deficiency
  • autosomal dominant hyperinsulinism due to SUR1 deficiency
  • autosomal recessive hyperinsulinism due to Kir6.2 deficiency
  • autosomal recessive hyperinsulinism due to SUR1 deficiency
  • congenital isolated hyperinsulinism
  • diazoxide-resistant diffuse hyperinsulinism
  • diazoxide-resistant focal hyperinsulinism
  • diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
  • diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
  • diazoxide-resistant hyperinsulinism
  • diazoxide-sensitive diffuse hyperinsulinism
  • exercise-induced hyperinsulinism
  • familial hyperinsulinism
  • hyperinsulinemic hypoglycemia, familial, 2
  • hyperinsulinemic hypoglycemia, familial, 3
  • hyperinsulinemic hypoglycemia, familial, 4
  • hyperinsulinism due to HNF1A deficiency
  • hyperinsulinism due to HNF4A deficiency
  • hyperinsulinism due to INSR deficiency
  • hyperinsulinism due to UCP2 deficiency
  • hyperinsulinism-hyperammonemia syndrome
MONDO:0002177MedGen 43779

Islet Cell Adenomatosis

Autosomal dominant

A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.

Genes analysed

Also known as

INSDM

Includes 19 related subtypes ↓
  • autosomal dominant hyperinsulinism due to Kir6.2 deficiency
  • autosomal dominant hyperinsulinism due to SUR1 deficiency
  • autosomal recessive hyperinsulinism due to Kir6.2 deficiency
  • autosomal recessive hyperinsulinism due to SUR1 deficiency
  • congenital isolated hyperinsulinism
  • diazoxide-resistant diffuse hyperinsulinism
  • diazoxide-resistant focal hyperinsulinism
  • diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
  • diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
  • diazoxide-resistant hyperinsulinism
  • diazoxide-sensitive diffuse hyperinsulinism
  • exercise-induced hyperinsulinism
  • hyperinsulinemic hypoglycemia, familial, 2
  • hyperinsulinemic hypoglycemia, familial, 3
  • hyperinsulinemic hypoglycemia, familial, 4
  • hyperinsulinism due to HNF1A deficiency
  • hyperinsulinism due to HNF4A deficiency
  • hyperinsulinism due to UCP2 deficiency
  • hyperinsulinism-hyperammonemia syndrome
MONDO:0007834OMIM 147630MedGen 293643

Hyperinsulinemic Hypoglycemia, Familial, 1

Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene.

Genes analysed

Also known as

ABCC8 hyperinsulinemic hypoglycemia (disease); HHF1; hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8; hyperinsulinemic hypoglycemia due to SUR1 deficiency; hyperinsulinemic hypoglycemia, familial, type 1

Includes 2 related subtypes ↓
  • autosomal recessive hyperinsulinism due to SUR1 deficiency
  • diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
MONDO:0009734OMIM 256450MedGen 419505

Leucine-induced hypoglycemia

Autosomal dominant

Low blood sugar triggered by protein (leucine) intake, caused by inappropriate insulin release.

Genes analysed

Also known as

familial infantile hypoglycemia precipitated by leucine; hypoglycemia leucine induced; hypoglycemia leucine-induced; hypoglycemia of infancy, leucine-sensitive; LIH

MONDO:0009415OMIM 240800MedGen 82888

Hyperinsulinemic hypoglycemia with polycystic kidney disease

Autosomal recessive

Hyperinsulinaemic hypoglycaemia with enlarged polycystic kidneys, caused by a PMM2 promoter variant.

Genes analysed

Also known as

HIPKD

MONDO:1030000

Other endocrine conditions

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