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familial hyperinsulinemic hypoglycemia 3
Summary
- Synonym
-
- HHF3
- hyperinsulinemic hypoglycemia due to glucokinase deficiency
- hyperinsulinism due to glucokinase deficiency
- Definition
- A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13.
- Super Class
- autosomal dominant disease hyperinsulinemic hypoglycemia
External Links
- Disease Ontology
- DOID:0070216
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001259 | Coma |
| HP:0002270 | Abnormality of the autonomic nervous system |
| HP:0001249 | Intellectual disability |
| HP:0011462 | Young adult onset |
| HP:0000819 | Diabetes mellitus |
| HP:0002173 | Hypoglycemic seizures |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001325 | Hypoglycemic coma |
| HP:0003621 | Juvenile onset |
