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
Displaying entries 1 - 10 of 17 in total
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024