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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
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 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 | |
| 4015 | LOX | lysyl oxidase | |
| 7148 | TNXB | tenascin XB | |
| 9509 | ADAMTS2 | ADAM metallopeptidase with thrombospondin type 1 motif 2 | |
| 11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95450 | A disintegrin and metalloproteinase with thrombospondin motifs 2 | |
| P02461 | Collagen alpha-1(III) chain | |
| P05997 | Collagen alpha-2(V) chain | |
| P08123 | Collagen alpha-2(I) chain | |
| P20908 | Collagen alpha-1(V) chain | |
| P22105 | Tenascin-X | |
| P28300 | Protein-lysine 6-oxidase | |
| Q9UBV7 | Beta-1,4-galactosyltransferase 7 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| A8Y5E6 | Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 | |
| P28654 | Decorin | |
| Q99LL6 | Col1a1 protein (Fragment) |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P34548 | Xylosylprotein 4-beta-galactosyltransferase |
