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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q16836 | Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001289 | Confusion |
| HP:0002913 | Myoglobinuria |
| HP:0008180 | Mildly elevated creatine kinase |
| HP:0001985 | Hypoketotic hypoglycemia |
| HP:0001252 | Hypotonia |
| HP:0011968 | Feeding difficulties |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001325 | Hypoglycemic coma |
| HP:0003623 | Neonatal onset |
| HP:0001249 | Intellectual disability |
