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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 33 | ACADL | acyl-CoA dehydrogenase long chain | |
| 37 | ACADVL | acyl-CoA dehydrogenase very long chain | |
| 1374 | CPT1A | carnitine palmitoyltransferase 1A | |
| 1375 | CPT1B | carnitine palmitoyltransferase 1B | |
| 1376 | CPT2 | carnitine palmitoyltransferase 2 | |
| 23175 | LPIN1 | lipin 1 | |
| 56994 | CHPT1 | choline phosphotransferase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P23786 | Carnitine O-palmitoyltransferase 2, mitochondrial | |
| P49748 | Very long-chain specific acyl-CoA dehydrogenase, mitochondrial | |
| P50416 | Carnitine O-palmitoyltransferase 1, liver isoform |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002020 | Gastroesophageal reflux |
| HP:0003552 | Muscle stiffness |
| HP:0001404 | Hepatocellular necrosis |
| HP:0005943 | Respiratory arrest |
| HP:0001640 | Cardiomegaly |
| HP:0001252 | Hypotonia |
| HP:0001522 | Death in infancy |
| HP:0003623 | Neonatal onset |
| HP:0001324 | Muscle weakness |
