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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 |
|---|---|---|
| P05093 | Steroid 17-alpha-hydroxylase/17,20 lyase | |
| P05177 | Cytochrome P450 1A2 | |
| P05187 | Alkaline phosphatase, placental type | |
| P05362 | Intercellular adhesion molecule 1 | |
| P06731 | Carcinoembryonic antigen-related cell adhesion molecule 5 | |
| P07585 | Decorin | |
| P07602 | Prosaposin | |
| P07741 | Adenine phosphoribosyltransferase | |
| P08758 | Annexin A5 | |
| P09467 | Fructose-1,6-bisphosphatase 1 |
