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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 |
|---|---|---|
| P0CG37 | Cryptic protein | |
| P12821 | Angiotensin-converting enzyme | |
| P13611 | Versican core protein | |
| P14314 | Glucosidase 2 subunit beta | |
| P15104 | Glutamine synthetase | |
| P16070 | CD44 antigen | |
| P16112 | Aggrecan core protein | |
| P16152 | Carbonyl reductase [NADPH] 1 | |
| P16442 | Histo-blood group ABO system transferase | |
| P20916 | Myelin-associated glycoprotein |
