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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:0006929 | Hypoglycemic encephalopathy |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0001998 | Neonatal hypoglycemia |
| HP:0001397 | Hepatic steatosis |
| HP:0003215 | Dicarboxylic aciduria |
| HP:0012071 | Abnormal circulating acylcarnitine concentration |
| HP:0002014 | Diarrhea |
| HP:0001511 | Intrauterine growth retardation |
| HP:0003508 | Proportionate short stature |
