familial hyperinsulinemic hypoglycemia 5

Term ID

DOID:0070220

Synonyms

• HHF5
• hyperinsulinemic hypoglycemia due to INSR deficiency
• hyperinsulinemic hypoglycemia due to insulin receptor deficiency
• hyperinsulinism due to INSR deficiency

Definition

A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/15161766

References

• MIM:609968
• ORDO:263458

Ontology

Human Disease   ( DOID:0070220 )