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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 |
|---|---|---|
| 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 |
