cherubism

Summary
Definition
A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3.
Super Class
autosomal dominant disease skin disease
External Links
Disease Ontology
DOID:1856
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 16 in total
Gene ID Gene Symbol Description Source
176 ACAN aggrecan
353 APRT adenine phosphoribosyltransferase
1634 DCN decorin
2131 EXT1 exostosin glycosyltransferase 1
2132 EXT2 exostosin glycosyltransferase 2
2137 EXTL3 exostosin like glycosyltransferase 3
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2
5336 PLCG2 phospholipase C gamma 2
5728 PTEN phosphatase and tensin homolog

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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