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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:0002378 | Hand tremor |
| HP:0001324 | Muscle weakness |
| HP:0012638 | Abnormal nervous system physiology |
| HP:0001250 | Seizure |
| HP:0008283 | Fasting hyperinsulinemia |
| HP:0001988 | Recurrent hypoglycemia |
| HP:0000825 | Hyperinsulinemic hypoglycemia |
| HP:0005978 | Type II diabetes mellitus |
| HP:0001985 | Hypoketotic hypoglycemia |
| HP:0012378 | Fatigue |
