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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 |
|---|---|---|---|
| 353 | APRT | adenine phosphoribosyltransferase | |
| 414 | ARSD | arylsulfatase D | |
| 821 | CANX | calnexin | |
| 847 | CAT | catalase | |
| 873 | CBR1 | carbonyl reductase 1 | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1048 | CEACAM5 | CEA cell adhesion molecule 5 | |
| 1087 | CEACAM7 | CEA cell adhesion molecule 7 | |
| 1103 | CHAT | choline O-acetyltransferase | |
| 1109 | AKR1C4 | aldo-keto reductase family 1 member C4 |
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 |
