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cerebrotendinous xanthomatosis
Summary
- Synonym
-
- Cholestanol storage disease
- Definition
- A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.
- Super Class
- xanthomatosis
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1576 | CYP3A4 | cytochrome P450 family 3 subfamily A member 4 | |
| 1593 | CYP27A1 | cytochrome P450 family 27 subfamily A member 1 | |
| 1594 | CYP27B1 | cytochrome P450 family 27 subfamily B member 1 | |
| 3290 | HSD11B1 | hydroxysteroid 11-beta dehydrogenase 1 | |
| 3291 | HSD11B2 | hydroxysteroid 11-beta dehydrogenase 2 | |
| 5730 | PTGDS | prostaglandin D2 synthase | |
| 124872 | B4GALNT2 | beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P28845 | 11-beta-hydroxysteroid dehydrogenase 1 | |
| P41222 | Prostaglandin-H2 D-isomerase | |
| Q8NHY0 | Beta-1,4 N-acetylgalactosaminyltransferase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000464 | Abnormality of the neck |
| HP:0000492 | Abnormal eyelid morphology |
| HP:0000505 | Visual impairment |
| HP:0000520 | Proptosis |
| HP:0000543 | Optic disc pallor |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000649 | Abnormality of visual evoked potentials |
| HP:0000708 | Atypical behavior |
| HP:0000713 | Agitation |
