Visualize Submit Comment
Metadata
ID DOID:0070217
Name familial hyperinsulinemic hypoglycemia 6
Definition A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3.
https://www.ncbi.nlm.nih.gov/pubmed/8769351, https://www.ncbi.nlm.nih.gov/pubmed/9571255
Xrefs

GARD:9931

OMIM:606762

ORDO:35878

Subsets

DO_rare_slim

Synonyms

HHF6 [EXACT]

HI/HA syndrome [EXACT]

hyperinsulinism-hyperammonemia syndrome [EXACT]

Parent Relationships

is_a hyperinsulinemic hypoglycemia

is_a autosomal dominant disease

Add an item to the term tracker