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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 |
|---|---|---|
| P21912 | Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial | |
| P22303 | Acetylcholinesterase | |
| P22304 | Iduronate 2-sulfatase | |
| P22897 | Macrophage mannose receptor 1 | |
| P23219 | Prostaglandin G/H synthase 1 | |
| P26715 | NKG2-A/NKG2-B type II integral membrane protein | |
| P27824 | Calnexin | |
| P28329 | Choline O-acetyltransferase | |
| P34741 | Syndecan-2 | |
| P35354 | Prostaglandin G/H synthase 2 |
