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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1277 | COL1A1 | collagen type I alpha 1 chain | |
| 1278 | COL1A2 | collagen type I alpha 2 chain | |
| 1281 | COL3A1 | collagen type III alpha 1 chain | |
| 1289 | COL5A1 | collagen type V alpha 1 chain | |
| 1290 | COL5A2 | collagen type V alpha 2 chain | |
| 1634 | DCN | decorin | |
| 4015 | LOX | lysyl oxidase | |
| 5351 | PLOD1 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | |
| 7040 | TGFB1 | transforming growth factor beta 1 | |
| 7148 | TNXB | tenascin XB |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 12825 | Col3a1 | collagen, type III, alpha 1 | |
| 12831 | Col5a1 | collagen, type V, alpha 1 | |
| 12832 | Col5a2 | collagen, type V, alpha 2 | |
| 12842 | Col1a1 | collagen, type I, alpha 1 | |
| 12843 | Col1a2 | collagen, type I, alpha 2 | |
| 13179 | Dcn | decorin | |
| 16948 | Lox | lysyl oxidase | |
| 18822 | Plod1 | procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 | |
| 21803 | Tgfb1 | transforming growth factor, beta 1 | |
| 81877 | Tnxb | tenascin XB |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 29139 | Dcn | decorin | |
| 29393 | Col1a1 | collagen type I alpha 1 chain | |
| 59086 | Tgfb1 | transforming growth factor, beta 1 | |
| 84032 | Col3a1 | collagen type III alpha 1 chain | |
| 84352 | Col1a2 | collagen type I alpha 2 chain | |
| 298690 | B3galt6 | Beta-1,3-galactosyltransferase 6 | |
| 364675 | B4galt7 | beta-1,4-galactosyltransferase 7 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 35848 | beta3GalTII | beta-1,3-Galactosyltransferase II | |
| 39265 | Plod | procollagen lysyl hydroxylase | |
| 42991 | beta4GalT7 | beta-4-galactosyltransferase 7 | |
| 43533 | Zip99C | Zinc/iron regulated transporter-related protein 99C |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 397778 | tgfb1.L | transforming growth factor beta 1 L homeolog | Xenopus laevis (African clawed frog) | |
| 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) |
