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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 |
|---|---|---|---|
| 224 | ALDH3A2 | aldehyde dehydrogenase 3 family member A2 | |
| 231 | AKR1B1 | aldo-keto reductase family 1 member B | |
| 242 | ALOX12B | arachidonate 12-lipoxygenase, 12R type | |
| 249 | ALPL | alkaline phosphatase, biomineralization associated | |
| 280 | AMY2B | amylase alpha 2B | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 412 | STS | steroid sulfatase | |
| 501 | ALDH7A1 | aldehyde dehydrogenase 7 family member A1 | |
| 821 | CANX | calnexin | |
| 847 | CAT | catalase |
| 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: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 |
