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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 |
|---|---|---|
| P08842 | Steryl-sulfatase | |
| P12821 | Angiotensin-converting enzyme | |
| P13591 | Neural cell adhesion molecule 1 | |
| P14151 | L-selectin | |
| P15121 | Aldo-keto reductase family 1 member B1 | |
| P16109 | P-selectin | |
| P16581 | E-selectin | |
| P21589 | 5'-nucleotidase | |
| P22413 | Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 | |
| P27824 | Calnexin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002617 | Vascular dilatation |
| HP:0002621 | Atherosclerosis |
| HP:0002650 | Scoliosis |
| HP:0004306 | Abnormal endocardium morphology |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0007392 | Excessive wrinkled skin |
| HP:0012508 | Metamorphopsia |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0100545 | Arterial stenosis |
| HP:0100585 | Telangiectasia of the skin |
