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cleidocranial dysplasia
Summary
- Synonym
-
- Marie-Sainton Disease
- cleidocranial dysostosis
- Definition
- An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.
- Super Class
- autosomal dominant disease osteochondrodysplasia
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 217 | ALDH2 | aldehyde dehydrogenase 2 family member | |
| 2131 | EXT1 | exostosin glycosyltransferase 1 | |
| 2132 | EXT2 | exostosin glycosyltransferase 2 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5648 | MASP1 | MBL associated serine protease 1 | |
| 7369 | UMOD | uromodulin | |
| 9126 | SMC3 | structural maintenance of chromosomes 3 | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UBV7 | Beta-1,4-galactosyltransferase 7 | |
| Q9UQE7 | Structural maintenance of chromosomes protein 3 | |
| Q9Y6Z7 | Collectin-10 |
