familial hyperinsulinemic hypoglycemia 2

Term ID

DOID:0070218

Synonyms

Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
HHF2
hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia

Definition

A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1. (2)

References

OMIM:601820

Ontology

Human Disease ( DOID:0070218 )

Relationships

is a type of: autosomal dominant disease autosomal recessive disease hyperinsulinemic hypoglycemia

autosomal dominant disease autosomal recessive disease hyperinsulinemic hypoglycemia Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations