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pseudoxanthoma elasticum
Summary
- Synonym
-
- Gronblad-Strandberg syndrome
- Definition
- A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.
- Super Class
- autosomal recessive disease connective tissue disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 14775 | Gpx1 | glutathione peroxidase 1 | |
| 17390 | Mmp2 | matrix metallopeptidase 2 | |
| 18605 | Enpp1 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | |
| 20656 | Sod2 | superoxide dismutase 2, mitochondrial | |
| 22339 | Vegfa | vascular endothelial growth factor A | |
| 27421 | Abcc6 | ATP-binding cassette, sub-family C member 6 | |
| 217119 | Xylt2 | xylosyltransferase II | |
| 233781 | Xylt1 | xylosyltransferase 1 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 24787 | Sod2 | superoxide dismutase 2 | |
| 64133 | Xylt1 | xylosyltransferase 1 | |
| 64134 | Xylt2 | xylosyltransferase 2 | |
| 81642 | Abcc6 | ATP binding cassette subfamily C member 6 | |
| 81686 | Mmp2 | matrix metallopeptidase 2 | |
| 83785 | Vegfa | vascular endothelial growth factor A | |
| 85496 | Enpp1 | ectonucleotide pyrophosphatase/phosphodiesterase 1 |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 444363 | xylt1.L | xylosyltransferase I L homeolog | Xenopus laevis (African clawed frog) | |
| 448400 | xylt2 | xylosyltransferase II | Xenopus tropicalis (tropical clawed frog) | |
| 100145490 | xylt1 | xylosyltransferase I | Xenopus tropicalis (tropical clawed frog) | |
| 108701100 | xylt2.L | xylosyltransferase II L homeolog | Xenopus laevis (African clawed frog) | |
| 108703114 | xylt1.S | xylosyltransferase I S homeolog | Xenopus laevis (African clawed frog) |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 179665 | C27A7.3 | Ectonucleotide pyrophosphatase/phosphodiesterase C27A7.1;Ectonucleotide pyrophosphatase/phosphodiesterase C27A7.3 | |
| 179991 | zmp-4 | Hemopexin;Peptidase metallopeptidase domain-containing protein | |
| 180351 | W01F3.2 | Uncharacterized protein | |
| 180409 | mrp-1 | Multidrug resistance-associated protein 1 | |
| 181178 | gpx-5 | Glutathione peroxidase | |
| 182513 | gpx-3 | Glutathione peroxidase 3 | |
| 190099 | sqv-6 | Xylosyltransferase sqv-6;protein xylosyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000121 | Nephrocalcinosis |
| HP:0000218 | High palate |
| HP:0000474 | Thickened nuchal skin fold |
| HP:0000488 | Retinopathy |
| HP:0000505 | Visual impairment |
| HP:0000545 | Myopia |
| HP:0000573 | Retinal hemorrhage |
| HP:0000592 | Blue sclerae |
| HP:0000765 | Abnormal thorax morphology |
| HP:0000821 | Hypothyroidism |
