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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 |
|---|---|---|---|
| 55858 | TMEM165 | transmembrane protein 165 | |
| 55902 | ACSS2 | acyl-CoA synthetase short chain family member 2 | |
| 55997 | CFC1 | cryptic, EGF-CFC family member 1 | |
| 79644 | SRD5A3 | steroid 5 alpha-reductase 3 | |
| 79796 | ALG9 | ALG9 alpha-1,2-mannosyltransferase | |
| 84720 | PIGO | phosphatidylinositol glycan anchor biosynthesis class O | |
| 84992 | PIGY | phosphatidylinositol glycan anchor biosynthesis class Y | |
| 92579 | G6PC3 | glucose-6-phosphatase catalytic subunit 3 | |
| 93210 | PGAP3 | post-GPI attachment to proteins phospholipase 3 | |
| 113189 | CHST14 | carbohydrate sulfotransferase 14 |
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 |
