Werner syndrome (WS) is a premature aging disorder with a complex phenotype, which includes many age-related disorders that develop from puberty, including greying and thinning of the hair, bilateral cataract formation, type II diabetes mellitus, osteoporosis and atherosclerosis. WS patients also experience an increased risk of rare non-epithelial cancers, especially sarcomas. Death usually occurs in the fourth decade from cardiovascular compromise or cancer. WS is caused by mutations of WRN gene, that play a major role in genome stability, particularly during DNA replication and telomere metabolism.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2B Syndromes with premature ageing appearance as a major feature
H01733 Werner syndrome
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06506 Double-strand break repair
H01733 Werner syndrome
