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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Cornelia de Lange syndrome
Summary
- Synonym
-
- Brachmann de Lange syndrome
- De Lange syndrome
- Definition
- A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
- Super Class
- monogenic disease syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1634 | DCN | decorin | |
| 2131 | EXT1 | exostosin glycosyltransferase 1 | |
| 2348 | FOLR1 | folate receptor alpha | |
| 2597 | GAPDH | glyceraldehyde-3-phosphate dehydrogenase | |
| 2653 | GCSH | glycine cleavage system protein H | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 2731 | GLDC | glycine decarboxylase | |
| 2821 | GPI | glucose-6-phosphate isomerase | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 4968 | OGG1 | 8-oxoguanine DNA glycosylase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q16394 | Exostosin-1 | |
| Q96FL9 | Polypeptide N-acetylgalactosaminyltransferase 14 | |
| Q9H1B5 | Xylosyltransferase 2 | |
| Q9UBV7 | Beta-1,4-galactosyltransferase 7 | |
| Q9UEF7 | Klotho | |
| Q9UQE7 | Structural maintenance of chromosomes protein 3 |
