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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 |
|---|---|---|---|
| 5277 | PIGA | phosphatidylinositol glycan anchor biosynthesis class A | |
| 5289 | PIK3C3 | phosphatidylinositol 3-kinase catalytic subunit type 3 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
| 5311 | PKD2 | polycystin 2, transient receptor potential cation channel | |
| 5333 | PLCD1 | phospholipase C delta 1 | |
| 5373 | PMM2 | phosphomannomutase 2 |
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 |
