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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
very long chain acyl-CoA dehydrogenase deficiency
Summary
- Synonym
-
- VLCAD deficiency
- Definition
- A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids.
- Super Class
- lipid metabolism disorder
External Links
- Disease Ontology
- DOID:0080155
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P49748 | Very long-chain specific acyl-CoA dehydrogenase, mitochondrial |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P50544 | Very long-chain specific acyl-CoA dehydrogenase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0002045 | Hypothermia |
| HP:0011123 | Inflammatory abnormality of the skin |
| HP:0001513 | Obesity |
| HP:0002240 | Hepatomegaly |
| HP:0002013 | Vomiting |
| HP:0009045 | Exercise-induced rhabdomyolysis |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
