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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|
| 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 |
