hereditary multiple exostoses

Summary
Synonym
  • Multiple congenital exostosis
  • Multiple exostosis syndromes
  • Osteochondromatosis syndrome
  • hereditary multiple exostoses 1
  • hereditary multiple exostoses 2
  • hereditary multiple exostoses 3
  • multiple ostechondromas
Definition
An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.
Super Class
autosomal dominant disease exostosis
External Links
Disease Ontology
DOID:206
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 15 in total
Gene ID Gene Symbol Description Source
176 ACAN aggrecan
2131 EXT1 exostosin glycosyltransferase 1
2132 EXT2 exostosin glycosyltransferase 2
2134 EXTL1 exostosin like glycosyltransferase 1
2135 EXTL2 exostosin like glycosyltransferase 2
2137 EXTL3 exostosin like glycosyltransferase 3
3339 HSPG2 heparan sulfate proteoglycan 2
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2
6383 SDC2 syndecan 2
Displaying all 4 entries
Gene ID Gene Symbol Description Source
14042 Ext1 exostosin glycosyltransferase 1
14043 Ext2 exostosin glycosyltransferase 2
54616 Extl3 exostosin-like glycosyltransferase 3
56219 Extl1 exostosin-like glycosyltransferase 1
Displaying all 4 entries
Gene ID Gene Symbol Description Source
56819 Extl3 exostosin-like glycosyltransferase 3
299907 Ext1 exostosin glycosyltransferase 1
311215 Ext2 exostosin glycosyltransferase 2
313610 Extl1 exostosin-like glycosyltransferase 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
36614 ttv tout-velu
37198 botv brother of tout-velu
3772101 sotv sister of tout-velu
Displaying all 5 entries
Gene ID Gene Symbol Description Source
493780 ext2 exostosin glycosyltransferase 2
493783 extl3 exostosin-like glycosyltransferase 3
497279 ext1a exostosin glycosyltransferase 1a
497280 ext1b exostosin glycosyltransferase 1b
497281 ext1c exostoses (multiple) 1c
Displaying all 5 entries
Gene ID Gene Symbol Description Source Organism
398214 ext1.L exostosin glycosyltransferase 1 L homeolog Xenopus laevis (African clawed frog)
399115 ext1.S exostosin glycosyltransferase 1 S homeolog Xenopus laevis (African clawed frog)
448393 ext1 exostosin glycosyltransferase 1 Xenopus tropicalis (tropical clawed frog)
493398 extl3 exostosin like glycosyltransferase 3 Xenopus tropicalis (tropical clawed frog)
100151709 ext2 exostosin glycosyltransferase 2 Xenopus tropicalis (tropical clawed frog)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
176502 rib-2 Exostosin-2 homolog
178080 rib-1 Exostosin-1 homolog
The Human Phenotype Ontology
Displaying entries 1 - 10 of 56 in total
HPO ID HPO Term
HP:0000016 Urinary retention
HP:0000896 Rib exostoses
HP:0000918 Scapular exostoses
HP:0001191 Abnormal carpal morphology
HP:0001369 Arthritis
HP:0001376 Limitation of joint mobility
HP:0001850 Abnormality of the tarsal bones
HP:0002015 Dysphagia
HP:0002107 Pneumothorax
HP:0002144 Tethered cord
Displaying all 2 entries
Gene ID Gene Symbol Description
2131 EXT1 exostosin glycosyltransferase 1
2132 EXT2 exostosin glycosyltransferase 2

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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