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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
carnitine palmitoyltransferase II deficiency
Summary
- Synonym
-
- CPT-II
- infantile carnitine palmitoyltransferase II deficiency
- late-onset carnitine palmitoyltransferase II deficiency
- lethal neonatal carnitine palmitoyltransferase II deficiency
- Definition
- A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
- Super Class
- lipid metabolism disorder
External Links
- Disease Ontology
- DOID:0060235
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1376 | CPT2 | carnitine palmitoyltransferase 2 | |
| 1431 | CS | citrate synthase | |
| 1962 | EHHADH | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 3030 | HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | |
| 56994 | CHPT1 | choline phosphotransferase 1 | |
| 79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75390 | Citrate synthase, mitochondrial | |
| P23786 | Carnitine O-palmitoyltransferase 2, mitochondrial | |
| P40939 | Trifunctional enzyme subunit alpha, mitochondrial | |
| Q04446 | 1,4-alpha-glucan-branching enzyme |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002104 | Apnea |
| HP:0002878 | Respiratory failure |
| HP:0002987 | Elbow flexion contracture |
| HP:0003259 | Elevated circulating creatinine concentration |
| HP:0003573 | Increased total bilirubin |
| HP:0006380 | Knee flexion contracture |
| HP:0006561 | Lipid accumulation in hepatocytes |
| HP:0006610 | Wide intermamillary distance |
| HP:0006799 | Basal ganglia cysts |
| HP:0007023 | Antenatal intracerebral hemorrhage |
