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tarsal-carpal coalition syndrome
Summary
- Definition
- A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion.
- Super Class
- autosomal dominant disease dysostosis
External Links
- Disease Ontology
- DOID:0050789
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 28 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |
| 240 | ALOX5 | arachidonate 5-lipoxygenase | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1012 | CDH13 | cadherin 13 | |
| 1727 | CYB5R3 | cytochrome b5 reductase 3 | |
| 2597 | GAPDH | glyceraldehyde-3-phosphate dehydrogenase | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4758 | NEU1 | neuraminidase 1 | |
| 5329 | PLAUR | plasminogen activator, urokinase receptor |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60760 | Hematopoietic prostaglandin D synthase | |
| O95271 | Poly [ADP-ribose] polymerase tankyrase-1 | |
| P00387 | NADH-cytochrome b5 reductase 3 | |
| P04406 | Glyceraldehyde-3-phosphate dehydrogenase | |
| P16070 | CD44 antigen | |
| P16278 | Beta-galactosidase | |
| P16442 | Histo-blood group ABO system transferase | |
| P22897 | Macrophage mannose receptor 1 | |
| P35354 | Prostaglandin G/H synthase 2 | |
| P55290 | Cadherin-13 |
