Hyperinsulinemic Hypoglycemia, Familial, 1 (HHF1)

Alias:

Persistent Hyperinsulinemic Hypoglycemia of Infancy

Congenital Hyperinsulinism

Hhf1

Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia

Hyperinsulinism, Familial, with Pancreatic Nesidioblastosis

Autosomal Dominant Hyperinsulinism Due to Sur1 Deficiency

Familial Hyperinsulinemic Hypoglycemia 1

Nesidioblastosis of Pancreas

Hyperinsulinism, Congenital

Phhi

Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency, Diazoxide-Resistant Focal Form

Autosomal Recessive Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency

Autosomal Dominant Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency

Diazoxide-Resistant Focal Hyperinsulinism Due to Sur1 Deficiency

Autosomal Recessive Hyperinsulinism Due to Sur1 Deficiency

Hypoglycemia, Hyperinsulinemic, Familial, Type 1

Hypoglycemia, Hyperinsulinemic, of Infancy

Hyperinsulinemic Hypoglycemia of Infancy

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hyperinsulinemic Hypoglycemia, Familial, 1, also known as persistent hyperinsulinemic hypoglycemia of infancy, is related to hyperinsulinemic hypoglycemia, familial, 2 and hyperinsulinemic hypoglycemia. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 1 is ABCC8 (ATP Binding Cassette Subfamily C Member 8), and among its related pathways/superpathways are ECM proteoglycans and DNA Damage. The drugs Octreotide and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include pancreas and pancreatic islet, and related phenotypes are hyperinsulinemia and hyperinsulinemic hypoglycemia

Related ID：

MALACARDS：HYP304

OMIM：256450

MESH：D044903