RASopathy
Information
- Disease name
- RASopathy
- Disease ID
- DOID:0080690
- Description
- "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction." [url:https\://en.wikipedia.org/wiki/RASopathy, url:https\://www.nature.com/articles/jhg2015114, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115674/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04888936 | Recruiting | Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies | April 25, 2022 | January 31, 2025 | |
| NCT05761314 | Recruiting | N/A | Solid Tumors in RASopathies | October 12, 2021 | October 12, 2026 |
| NCT06331117 | Recruiting | N/A | Effect of RAS/MAPK Pathway Hyperactivation on Growth' and Bone' Profile of the RASopathies | April 22, 2021 | April 22, 2026 |
| NCT06355622 | Recruiting | N/A | Prevalence and Characterization of Pain in RASopathies | January 27, 2021 | June 30, 2024 |
- Disase is a (Disease Ontology)
- DOID:225
- Exact Synonym (Disease Ontology)
- RAS/mitogen-activated protein kinase syndrome