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familial hyperinsulinemic hypoglycemia 4
Summary
- Synonym
-
- HHF4
- hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- hyperinsulinism due to SCHAD deficiency
- hyperinsulinism due to glutamodehydrogenase deficiency
- hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Definition
- A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25.
- Super Class
- autosomal recessive disease hyperinsulinemic hypoglycemia
External Links
- Disease Ontology
- DOID:0070215
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0008283 | Fasting hyperinsulinemia |
| HP:0001987 | Hyperammonemia |
| HP:0001319 | Neonatal hypotonia |
| HP:0003128 | Lactic acidosis |
| HP:0000580 | Pigmentary retinopathy |
| HP:0001998 | Neonatal hypoglycemia |
| HP:0003215 | Dicarboxylic aciduria |
| HP:0001397 | Hepatic steatosis |
| HP:0006929 | Hypoglycemic encephalopathy |
