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hypoinsulinemic hypoglycemia with hemihypertrophy
Summary
- Synonym
-
- HIHGHH
- hypoinsulinemic hypoglycemia and body hemihypertrophy
- Definition
- An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2.
- Super Class
- autosomal dominant disease hypoglycemia
External Links
- Disease Ontology
- DOID:0112263
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P31751 | RAC-beta serine/threonine-protein kinase |
