Werner syndrome
Information
- Disease name
- Werner syndrome
- Disease ID
- DOID:5688
- Description
- "A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8." [url:https\://en.wikipedia.org/wiki/Werner_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15946710, url:https\://www.ncbi.nlm.nih.gov/pubmed/9288107]
Disease area statistics
Chromosome band
Gene symbol | Chromosome | Start | Stop | The number of variant |
---|---|---|---|---|
WRN | 8 | 31,033,810 | 31,176,138 | 52 |
Annotation
Genes | Mutation | Description | Source | Links |
---|
NCT ID | Status | Phase | Summary | Start date | Completion date |
---|---|---|---|---|---|
NCT04512963 | Completed | Phase 1 | Phase I Study of Progerinin in Healthy Volunteers | August 24, 2020 | July 27, 2021 |
NCT05847179 | Not yet recruiting | Phase 2 | Phase 2, Open-Label Study to Evaluate the Safety and Tolerability of Progerinin in Werner Syndrome | January 1, 2025 | January 1, 2027 |
- Disase is a (Disease Ontology)
- DOID:0081332
- Cross Reference ID (Disease Ontology)
- GARD:7885
- Cross Reference ID (Disease Ontology)
- MESH:D014898
- Cross Reference ID (Disease Ontology)
- MIM:277700
- Cross Reference ID (Disease Ontology)
- NCI:C3447
- Cross Reference ID (Disease Ontology)
- ORDO:902
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:51626007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0043119
- Exact Synonym (Disease Ontology)
- adult premature ageing syndrome
- Exact Synonym (Disease Ontology)
- adult progeria
- Exact Synonym (Disease Ontology)
- Werner's syndrome
- Exact Synonym (Disease Ontology)
- WS
- OrphaNumber from OrphaNet (Orphanet)
- 902
- MeSH unique ID (MeSH (Medical Subject Headings))
- D014898