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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 |
|---|---|---|---|
| 9023 | CH25H | cholesterol 25-hydroxylase | |
| 9060 | PAPSS2 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | |
| 9126 | SMC3 | structural maintenance of chromosomes 3 | |
| 9197 | SLC33A1 | solute carrier family 33 member 1 | |
| 9514 | GAL3ST1 | galactose-3-O-sulfotransferase 1 | |
| 9524 | TECR | trans-2,3-enoyl-CoA reductase | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase | |
| 10559 | SLC35A1 | solute carrier family 35 member A1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 10682 | EBP | EBP cholestenol delta-isomerase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q07837 | Amino acid transporter heavy chain SLC3A1 | |
| Q10981 | Galactoside alpha-(1,2)-fucosyltransferase 2 | |
| Q13563 | Polycystin-2 | |
| Q14002 | Carcinoembryonic antigen-related cell adhesion molecule 7 | |
| Q14118 | Dystroglycan 1 | |
| Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase | |
| Q15392 | Delta(24)-sterol reductase | |
| Q15485 | Ficolin-2 | |
| Q16678 | Cytochrome P450 1B1 | |
| Q5KSL6 | Diacylglycerol kinase kappa |
