Ehlers-Danlos syndrome

Summary
Synonym
  • Cutis hyperelastica
  • elastic skin
Definition
A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.
Super Class
collagen disease
External Links
Disease Ontology
DOID:13359
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 21 - 25 of 25 in total
Gene ID Gene Symbol Description Source
57104 PNPLA2 patatin like phospholipase domain containing 2
64131 XYLT1 xylosyltransferase 1
113189 CHST14 carbohydrate sulfotransferase 14
120227 CYP2R1 cytochrome P450 family 2 subfamily R member 1
126792 B3GALT6 beta-1,3-galactosyltransferase 6
Displaying all 2 entries
Gene ID Gene Symbol Description Source
117592 B3galt6 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6
218271 B4galt7 beta-1,4-galactosyltransferase 7
Displaying all 2 entries
Gene ID Gene Symbol Description Source
298690 B3galt6 Beta-1,3-galactosyltransferase 6
364675 B4galt7 beta-1,4-galactosyltransferase 7
Displaying all 3 entries
Gene ID Gene Symbol Description Source
35848 beta3GalTII beta-1,3-Galactosyltransferase II
39265 Plod procollagen lysyl hydroxylase
42991 beta4GalT7 beta-4-galactosyltransferase 7
Displaying all 2 entries
Gene ID Gene Symbol Description Source
445022 b4galt7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)
572324 b3galt6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
Displaying all 4 entries
Gene ID Gene Symbol Description Source Organism
495369 b4galt7.S xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 S homeolog Xenopus laevis (African clawed frog)
548849 b3galt6 Beta-1,3-galactosyltransferase 6 Xenopus tropicalis (tropical clawed frog)
100144979 b4galt7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 Xenopus tropicalis (tropical clawed frog)
108710989 b4galt7.L xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 L homeolog Xenopus laevis (African clawed frog)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
173635 sqv-2 Beta-1,3-galactosyltransferase sqv-2
176382 sqv-3 Xylosylprotein 4-beta-galactosyltransferase

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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