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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 |
|---|---|---|---|
| 3988 | LIPA | lipase A, lysosomal acid type | |
| 4099 | MAG | myelin associated glycoprotein | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4706 | NDUFAB1 | NADH:ubiquinone oxidoreductase subunit AB1 | |
| 4758 | NEU1 | neuraminidase 1 | |
| 4968 | OGG1 | 8-oxoguanine DNA glycosylase | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5161 | PDHA2 | pyruvate dehydrogenase E1 subunit alpha 2 | |
| 5226 | PGD | phosphogluconate dehydrogenase | |
| 5236 | PGM1 | phosphoglucomutase 1 |
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 |
