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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 |
|---|---|---|---|
| 26229 | B3GAT3 | beta-1,3-glucuronyltransferase 3 | |
| 27036 | SIGLEC7 | sialic acid binding Ig like lectin 7 | |
| 27163 | NAAA | N-acylethanolamine acid amidase | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 51227 | PIGP | phosphatidylinositol glycan anchor biosynthesis class P | |
| 51266 | CLEC1B | C-type lectin domain family 1 member B | |
| 51548 | SIRT6 | sirtuin 6 | |
| 51604 | PIGT | phosphatidylinositol glycan anchor biosynthesis class T | |
| 55556 | ENOSF1 | enolase superfamily member 1 | |
| 55650 | PIGV | phosphatidylinositol glycan anchor biosynthesis class V |
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 |
