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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:0000252 | Microcephaly |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001397 | Hepatic steatosis |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001522 | Death in infancy |
| HP:0001324 | Muscle weakness |
| HP:0001640 | Cardiomegaly |
| HP:0001252 | Hypotonia |
| HP:0001404 | Hepatocellular necrosis |
| HP:0002789 | Tachypnea |
