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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 | 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) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96AD5 | Patatin-like phospholipase domain-containing protein 2 | |
| Q9GZR5 | Very long chain fatty acid elongase 4 | |
| Q9H1B5 | Xylosyltransferase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001382 | Joint hypermobility |
| HP:0001482 | Subcutaneous nodule |
| HP:0001634 | Mitral valve prolapse |
| HP:0001645 | Sudden cardiac death |
| HP:0001681 | Angina pectoris |
| HP:0001723 | Restrictive cardiomyopathy |
| HP:0001872 | Abnormality of thrombocytes |
| HP:0002172 | Postural instability |
| HP:0002239 | Gastrointestinal hemorrhage |
| HP:0002514 | Cerebral calcification |
