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Weill-Marchesani syndrome
Summary
- Synonym
-
- GEMSS syndrome
- Marchesani-Weill Syndrome
- Mesodermal Dysmorphodystrophy, Congenital
- Spherophakia Brachymorphia Syndrome
- congenital mesodermal dystrophy
- Definition
- A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
- Super Class
- autosomal genetic disease syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2200 | FBN1 | fibrillin 1 | |
| 4053 | LTBP2 | latent transforming growth factor beta binding protein 2 | |
| 81794 | ADAMTS10 | ADAM metallopeptidase with thrombospondin type 1 motif 10 | |
| 170691 | ADAMTS17 | ADAM metallopeptidase with thrombospondin type 1 motif 17 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35555 | Fibrillin-1 | |
| Q14767 | Latent-transforming growth factor beta-binding protein 2 | |
| Q8TE56 | A disintegrin and metalloproteinase with thrombospondin motifs 17 | |
| Q9H324 | A disintegrin and metalloproteinase with thrombospondin motifs 10 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P58459 | A disintegrin and metalloproteinase with thrombospondin motifs 10 | |
| Q61554 | Fibrillin-1 |
