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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:0002013 | Vomiting |
| HP:0009830 | Peripheral neuropathy |
| HP:0001508 | Failure to thrive |
| HP:0003234 | Decreased circulating carnitine concentration |
| HP:0001270 | Motor delay |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0008151 | Prolonged prothrombin time |
| HP:0001657 | Prolonged QT interval |
| HP:0000825 | Hyperinsulinemic hypoglycemia |
| HP:0003128 | Lactic acidosis |
