OBO ID: DOID:0070220
Term Name: familial hyperinsulinemic hypoglycemia 5 Search Ontology:
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:
Ontology: Human Disease   (DOID:0070220)
OTHER familial hyperinsulinemic hypoglycemia 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
INSR Hyperinsulinemic hypoglycemia, familial, 5 609968
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None