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Marfan syndrome
Summary
- Synonym
-
- Marfan's syndrome
- Definition
- A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
- Super Class
- aortic disease connective tissue disease eye disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1462 | VCAN | versican | |
| 1544 | CYP1A2 | cytochrome P450 family 1 subfamily A member 2 | |
| 1545 | CYP1B1 | cytochrome P450 family 1 subfamily B member 1 | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1586 | CYP17A1 | cytochrome P450 family 17 subfamily A member 1 | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1634 | DCN | decorin | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 1645 | AKR1C1 | aldo-keto reductase family 1 member C1 | |
| 1717 | DHCR7 | 7-dehydrocholesterol reductase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05093 | Steroid 17-alpha-hydroxylase/17,20 lyase | |
| P05177 | Cytochrome P450 1A2 | |
| P05187 | Alkaline phosphatase, placental type | |
| P05362 | Intercellular adhesion molecule 1 | |
| P06731 | Carcinoembryonic antigen-related cell adhesion molecule 5 | |
| P07585 | Decorin | |
| P07602 | Prosaposin | |
| P07741 | Adenine phosphoribosyltransferase | |
| P08758 | Annexin A5 | |
| P09467 | Fructose-1,6-bisphosphatase 1 |
