Visualize Submit Comment
Metadata
ID DOID:0070218
Name familial hyperinsulinemic hypoglycemia 2
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.
https://www.ncbi.nlm.nih.gov/pubmed/9356020, https://www.ncbi.nlm.nih.gov/pubmed/8923010
Xrefs

MIM:601820

Synonyms

Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency [EXACT]

HHF2 [EXACT]

hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a hyperinsulinemic hypoglycemia

is_a autosomal recessive disease

Subclass Logical Relationships

has phenotype some Abnormal blood glucose concentration

has material basis in some autosomal dominant inheritance

has material basis in some autosomal recessive inheritance

Add an item to the term tracker