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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 |
|---|---|---|---|
| 1636 | ACE | angiotensin I converting enzyme | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2717 | GLA | galactosidase alpha | |
| 2876 | GPX1 | glutathione peroxidase 1 | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5167 | ENPP1 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
| 5319 | PLA2G1B | phospholipase A2 group IB |
| 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: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 |
