Werner syndrome

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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