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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 |
|---|---|---|
| Q93063 | Exostosin-2 | |
| Q969N2 | GPI transamidase component PIG-T | |
| Q96FM1 | Post-GPI attachment to proteins factor 3 | |
| Q96PE3 | Inositol polyphosphate-4-phosphatase type I A | |
| Q99519 | Sialidase-1 | |
| Q99999 | Galactosylceramide sulfotransferase | |
| Q9BZZ2 | Sialoadhesin | |
| Q9H6U8 | Alpha-1,2-mannosyltransferase ALG9 | |
| Q9HC07 | Putative divalent cation/proton antiporter TMEM165 | |
| Q9NR19 | Acetyl-coenzyme A synthetase, cytoplasmic |
