Proteus syndrome
Information
- Disease name
- Proteus syndrome
- Disease ID
- DOID:13482
- Description
- "A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues." [url:https\://ghr.nlm.nih.gov/condition/proteus-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK99495/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01369953 | Completed | Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants | May 29, 2011 | January 31, 2014 | |
| NCT02594215 | Completed | Phase 1 | Dose Finding Trial of MK-7075 in Children and Adults With Proteus Syndrome | November 16, 2015 | June 24, 2022 |
| NCT03317366 | No longer available | Expanded Access to Provide ARQ 092 for the Treatment of Overgrowth Diseases and/or Vascular Anomalies | |||
| NCT00001403 | Recruiting | Study of Proteus Syndrome and Related Congenital Disorders | April 27, 1994 | ||
| NCT04316546 | Recruiting | Phase 2 | MK-7075 (Miransertib) in Proteus Syndrome | May 20, 2022 | March 31, 2028 |
- Disase is a (Disease Ontology)
- DOID:0080191
- Cross Reference ID (Disease Ontology)
- GARD:7475
- Cross Reference ID (Disease Ontology)
- MESH:D016715
- Cross Reference ID (Disease Ontology)
- MIM:176920
- Cross Reference ID (Disease Ontology)
- NCI:C85032
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:394527003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0085261
- Exact Synonym (Disease Ontology)
- Wiedemann's syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 744
- MeSH unique ID (MeSH (Medical Subject Headings))
- D016715