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Loeys-Dietz syndrome 4
Summary
- Synonym
-
- Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations
- LDS4
- Definition
- A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41.
- Super Class
- Loeys-Dietz syndrome
External Links
- Disease Ontology
- DOID:0070233
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P61812 | Transforming growth factor beta-2 proprotein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100749 | Chest pain |
| HP:0002616 | Aortic root aneurysm |
| HP:0001659 | Aortic regurgitation |
| HP:0004950 | Peripheral arterial stenosis |
| HP:0200146 | Mucoid extracellular matrix accumulation |
| HP:0004933 | Ascending aortic dissection |
| HP:0002140 | Ischemic stroke |
| HP:0012499 | Descending aortic dissection |
| HP:0001763 | Pes planus |
| HP:0005112 | Abdominal aortic aneurysm |
