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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 |
|---|---|---|---|
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5589 | PRKCSH | PRKCSH beta subunit of glucosidase II | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 5648 | MASP1 | MBL associated serine protease 1 | |
| 5660 | PSAP | prosaposin | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5730 | PTGDS | prostaglandin D2 synthase | |
| 5742 | PTGS1 | prostaglandin-endoperoxide synthase 1 | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 6296 | ACSM3 | acyl-CoA synthetase medium chain family member 3 |
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 |
