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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
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Guidelines
MIRAGE
short chain acyl-CoA dehydrogenase deficiency
Summary
- Definition
- A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids.
- Super Class
- lipid metabolism disorder
External Links
- Disease Ontology
- DOID:0080154
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q07417 | Short-chain specific acyl-CoA dehydrogenase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001276 | Hypertonia |
| HP:0001332 | Dystonia |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0006929 | Hypoglycemic encephalopathy |
| HP:0001397 | Hepatic steatosis |
| HP:0000750 | Delayed speech and language development |
| HP:0001999 | Abnormal facial shape |
| HP:0001250 | Seizure |
| HP:0012758 | Neurodevelopmental delay |
| HP:0001511 | Intrauterine growth retardation |
