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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 |
|---|---|---|---|
| 368 | ABCC6 | ATP binding cassette subfamily C member 6 | |
| 847 | CAT | catalase | |
| 2006 | ELN | elastin | |
| 2876 | GPX1 | glutathione peroxidase 1 | |
| 4313 | MMP2 | matrix metallopeptidase 2 | |
| 6648 | SOD2 | superoxide dismutase 2 | |
| 7422 | VEGFA | vascular endothelial growth factor A | |
| 64131 | XYLT1 | xylosyltransferase 1 | |
| 64132 | XYLT2 | xylosyltransferase 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95255 | ATP-binding cassette sub-family C member 6 | |
| P04040 | Catalase | |
| P04179 | Superoxide dismutase [Mn], mitochondrial | |
| P08253 | 72 kDa type IV collagenase | |
| P15502 | Elastin | |
| P15692 | Vascular endothelial growth factor A, long form | |
| Q86Y38 | Xylosyltransferase 1 | |
| Q9H1B5 | Xylosyltransferase 2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9R1S7 | ATP-binding cassette sub-family C member 6 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O88269 | ATP-binding cassette sub-family C member 6 |
- 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 |
