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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
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
| 5167 | ENPP1 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 8705 | B3GALT4 | beta-1,3-galactosyltransferase 4 | |
| 9060 | PAPSS2 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | |
| 9917 | FAM20B | FAM20B glycosaminoglycan xylosylkinase | |
| 11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 | |
| 23545 | ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | |
| 29940 | DSE | dermatan sulfate epimerase | |
| 55512 | SMPD3 | sphingomyelin phosphodiesterase 3 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 35848 | beta3GalTII | beta-1,3-Galactosyltransferase II | |
| 39265 | Plod | procollagen lysyl hydroxylase | |
| 42991 | beta4GalT7 | beta-4-galactosyltransferase 7 |
| 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) |
Related Glycoprotein
