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Loeys-Dietz syndrome 1
Summary
- Synonym
-
- AAT5
- Furlong syndrome
- LDS1
- familial throacic aortic aneurysm 5
- Definition
- A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.
- Super Class
- Loeys-Dietz syndrome
External Links
- Disease Ontology
- DOID:0070235
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P36897 | TGF-beta receptor type-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012763 | Paroxysmal dyspnea |
| HP:0002326 | Transient ischemic attack |
| HP:0001647 | Bicuspid aortic valve |
| HP:0004944 | Dilatation of the cerebral artery |
| HP:0100775 | Dural ectasia |
| HP:0003549 | Abnormality of connective tissue |
| HP:0002138 | Subarachnoid hemorrhage |
| HP:0012163 | Carotid artery dilatation |
| HP:0001677 | Coronary artery atherosclerosis |
| HP:0004959 | Descending thoracic aorta aneurysm |
