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familial hyperinsulinemic hypoglycemia 2
Summary
- Synonym
-
- Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
- HHF2
- hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia
- Definition
- A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1.
- Super Class
- autosomal dominant disease autosomal recessive disease hyperinsulinemic hypoglycemia
External Links
- Disease Ontology
- DOID:0070218
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1056 | CEL | carboxyl ester lipase | |
| 1962 | EHHADH | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | |
| 2645 | GCK | glucokinase | |
| 3033 | HADH | hydroxyacyl-CoA dehydrogenase | |
| 3767 | KCNJ11 | potassium inwardly rectifying channel subfamily J member 11 | |
| 4351 | MPI | mannose phosphate isomerase | |
| 5236 | PGM1 | phosphoglucomutase 1 | |
| 5373 | PMM2 | phosphomannomutase 2 | |
| 8050 | PDHX | pyruvate dehydrogenase complex component X | |
| 27349 | MCAT | malonyl-CoA-acyl carrier protein transacylase |
Related Glycoprotein
