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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 |
|---|---|---|---|
| 6309 | SC5D | sterol-C5-desaturase | |
| 6319 | SCD | stearoyl-CoA desaturase | |
| 6383 | SDC2 | syndecan 2 | |
| 6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B | |
| 6470 | SHMT1 | serine hydroxymethyltransferase 1 | |
| 6519 | SLC3A1 | solute carrier family 3 member 1 | |
| 6614 | SIGLEC1 | sialic acid binding Ig like lectin 1 | |
| 6718 | AKR1D1 | aldo-keto reductase family 1 member D1 | |
| 6783 | SULT1E1 | sulfotransferase family 1E member 1 | |
| 8879 | SGPL1 | sphingosine-1-phosphate lyase 1 |
Related Glycoprotein
