Costello syndrome
Information
- Disease name
- Costello syndrome
- Disease ID
- DOID:0050469
- Description
- "A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17250658, url:https\://www.ncbi.nlm.nih.gov/pubmed/907573]
Disease area statistics
Chromosome band
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02812511 | Completed | N/A | Pathophysiology Analysis of "Costello Syndrome" on Cellular Models | June 2015 | July 2015 |
| NCT04395495 | Recruiting | RASopathy Biorepository | June 27, 2017 | December 2065 | |
| NCT04888936 | Recruiting | Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies | April 25, 2022 | January 31, 2025 | |
| NCT05361811 | Recruiting | N/A | Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial | January 10, 2024 | October 1, 2024 |
| 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:0080690
- Cross Reference ID (Disease Ontology)
- GARD:1550
- Cross Reference ID (Disease Ontology)
- MESH:D056685
- Cross Reference ID (Disease Ontology)
- MIM:218040
- Cross Reference ID (Disease Ontology)
- NCI:C84652
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:205803001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0587248
- Exact Synonym (Disease Ontology)
- Faciocutaneoskeletal Syndrome
- Exact Synonym (Disease Ontology)
- FCS SYNDROME
- OrphaNumber from OrphaNet (Orphanet)
- 3071
- MeSH unique ID (MeSH (Medical Subject Headings))
- D056685