FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term familial hyperinsulinemic hypoglycemia 6 ID (Ontology) DOID:0070217 (Human Disease)
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.
Also Known As "HHF6" ; "HI/HA syndrome" ; "hyperinsulinism-hyperammonemia syndrome"
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 Genes
 familial hyperinsulinemic hypoglycemia 6       2
 for disease ribbon | familial hyperinsulinemic hypoglycemia 6       2
 model of | familial hyperinsulinemic hypoglycemia 6       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_____
hypoglycemia                       |
 |__hyperinsulinemic hypoglycemia__|
                                   familial hyperinsulinemic hypoglycemia 6  2 rec.
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Is a autosomal dominant disease
hyperinsulinemic hypoglycemia
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Synonyms
  • "HHF6" EXACT OMO:0003012
    "HI/HA syndrome" EXACT
    "hyperinsulinism-hyperammonemia syndrome" EXACT
Secondary IDs
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GARD:9931
MIM:606762
ORDO:35878