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familial hyperinsulinemic hypoglycemia 5
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease hyperinsulinemic hypoglycemia
External Links
- Disease Ontology
- DOID:0070220
- ORDO
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06213 | Insulin receptor |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001259 | Coma |
| HP:0012378 | Fatigue |
| HP:0000855 | Insulin resistance |
| HP:0001988 | Recurrent hypoglycemia |
| HP:0000825 | Hyperinsulinemic hypoglycemia |
| HP:0001943 | Hypoglycemia |
| HP:0008283 | Fasting hyperinsulinemia |
| HP:0001250 | Seizure |
| HP:0002173 | Hypoglycemic seizures |
| HP:0011463 | Childhood onset |
