Sturge-Weber syndrome
Information
- Disease name
- Sturge-Weber syndrome
- Disease ID
- DOID:0111563
- Description
- "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2." [url:https\://ghr.nlm.nih.gov/condition/sturge-weber-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15165630, url:https\://www.ncbi.nlm.nih.gov/pubmed/23656586]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01425944 | Active, not recruiting | Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome | September 2010 | December 2024 | |
| NCT02332655 | Completed | Phase 1/Phase 2 | Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome | December 2014 | April 2021 |
| NCT03047980 | Completed | Phase 2/Phase 3 | Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome | January 2017 | October 27, 2020 |
| NCT05495269 | Completed | Phase 2 | Safety and Tolerability Study of QLS-101 in Adolescents With Sturge-Weber Syndrome (SWS)-Related Glaucoma Due to Elevated Episcleral Venous Pressure (EVP) | November 23, 2022 | March 20, 2023 |
| NCT04447846 | Completed | Phase 2 | Novel Cognitive Treatment Targets for Epidiolex in Sturge- Weber Syndrome | October 14, 2019 | December 9, 2022 |
| NCT04999618 | Completed | Phase 4 | A New Approach in Laser Surgery Using the Regenerative Solution in Children Diagnosed With Vascular Pathology | January 1, 2020 | October 27, 2021 |
| NCT01345305 | Completed | Biomarker Development in Sturge-Weber Syndrome | July 2010 | November 2012 | |
| NCT04717427 | Recruiting | Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome | September 8, 2021 | June 30, 2024 | |
| NCT04517565 | Recruiting | N/A | Longitudinal Neuroimaging in Sturge-Weber Syndrome | March 1, 2020 | February 28, 2025 |
| NCT04344626 | Withdrawn | N/A | Use of a Tonometer to Identify Epileptogenic Lesions During Pediatric Epilepsy Surgery | July 16, 2018 | March 2023 |
- Disase is a (Disease Ontology)
- DOID:178
- Cross Reference ID (Disease Ontology)
- GARD:7706
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q85.89
- Cross Reference ID (Disease Ontology)
- MESH:D013341
- Cross Reference ID (Disease Ontology)
- MIM:185300
- Cross Reference ID (Disease Ontology)
- NCI:C3391
- Cross Reference ID (Disease Ontology)
- ORDO:3205
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:157030004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0038505
- Exact Synonym (Disease Ontology)
- encephalofacial angiomatosis
- Exact Synonym (Disease Ontology)
- encephalotrigeminal angiomatosis
- Exact Synonym (Disease Ontology)
- fourth phacomatosis
- Exact Synonym (Disease Ontology)
- leptomeningeal angiomatosis
- Exact Synonym (Disease Ontology)
- meningeal capillary angiomatosis
- Exact Synonym (Disease Ontology)
- Sturge-Weber-Dimitri syndrome
- Exact Synonym (Disease Ontology)
- Sturge-Weber-Krabbe angiomatosis
- Exact Synonym (Disease Ontology)
- Sturge-Weber-Krabbe syndrome
- Exact Synonym (Disease Ontology)
- SWS
- OrphaNumber from OrphaNet (Orphanet)
- 3205
- MeSH unique ID (MeSH (Medical Subject Headings))
- D013341