Loeys-Dietz syndrome
Information
- Disease name
- Loeys-Dietz syndrome
- Disease ID
- DOID:0050466
- Description
- "A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects." [url:https\://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome]
Disease area statistics
Chromosome band
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05980104 | Active, not recruiting | N/A | Single-Session "Empowered Relief" Class for Marfan Syndrome and Related Conditions | March 21, 2024 | September 1, 2024 |
| NCT02213484 | Completed | Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes | July 1, 2014 | July 1, 2016 | |
| NCT01322165 | Completed | National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions | November 2007 | September 2016 | |
| NCT05472519 | Completed | N/A | Immunopathology of Loeys-Dietz Syndrome | October 17, 2022 | June 7, 2023 |
| NCT05389865 | Not yet recruiting | Proximal Aortopathy in Scotland - Epidemiology and Surgical Outcomes | August 2023 | August 2024 | |
| NCT03440697 | Recruiting | Pathogenetic Basis of Aortopathy and Aortic Valve Disease | December 10, 2015 | December 31, 2030 | |
| NCT02050113 | Recruiting | N/A | Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices | March 2014 | March 2030 |
| NCT02504853 | Recruiting | Natural History and Genetics of Food Allergy and Related Conditions | July 29, 2015 | June 15, 2025 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:10788
- Cross Reference ID (Disease Ontology)
- MESH:D055947
- Cross Reference ID (Disease Ontology)
- NCI:C75006
- Cross Reference ID (Disease Ontology)
- ORDO:60030
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:446263001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1836635
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C2697932
- OMIM Phenotype Series Number (OMIM)
- PS609192
- OrphaNumber from OrphaNet (Orphanet)
- 60030
- MeSH unique ID (MeSH (Medical Subject Headings))
- D055947