PTEN hamartoma tumor syndrome
Information
- Disease name
- PTEN hamartoma tumor syndrome
- Disease ID
- DOID:0080191
- Description
- "A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene." [url:https\://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1488/, url:https\://www.ncbi.nlm.nih.gov/pubmed/22628360]
Disease area statistics
Chromosome band
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04094675 | Active, not recruiting | Phase 2 | Sirolimus for Cowden Syndrome With Colon Polyposis | September 16, 2019 | February 2025 |
| NCT05671107 | Active, not recruiting | Development and Validation of an Online Neurobehavioral Evaluation Tool for PTEN Patients | September 9, 2021 | June 30, 2024 | |
| NCT02991807 | Completed | Phase 1/Phase 2 | RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome | June 12, 2017 | December 22, 2021 |
| NCT06080165 | Not yet recruiting | Phase 1/Phase 2 | Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations | July 2024 | June 2028 |
| NCT06462430 | Recruiting | PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry | November 1, 2022 | January 2, 2026 | |
| NCT03050268 | Recruiting | Familial Investigations of Childhood Cancer Predisposition | April 6, 2017 | March 31, 2037 | |
| NCT02461446 | Recruiting | Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations | May 2015 | December 2026 | |
| NCT03630523 | Unknown status | N/A | Response of Immune System to Flu Vaccination in PHTS | October 2018 | January 2019 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:12800
- OrphaNumber from OrphaNet (Orphanet)
- 306498