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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:0001252 | Hypotonia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001325 | Hypoglycemic coma |
| HP:0003623 | Neonatal onset |
| HP:0001249 | Intellectual disability |
| HP:0009830 | Peripheral neuropathy |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0012071 | Abnormal circulating acylcarnitine concentration |
| HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level |
| HP:0011968 | Feeding difficulties |
