KEGG   DISEASE: Werner syndrome
Entry
H01733                      Disease                                

Name
Werner syndrome
  Supergrp
Defects in RecQ helicases [DS:H00296]
Description
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 mutation 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 [BR:br08402]
 Endocrine and metabolic diseases
  Other endocrine and metabolic diseases
   H01733  Werner syndrome
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
Gene
WRN [HSA:7486] [KO:K10900]
Comment
Disorder of DNA repair system
Other DBs
ICD-11: LD2B
ICD-10: E34.8
MeSH: D014898
OMIM: 277700
Reference
  Authors
Mohaghegh P, Hickson ID
  Title
Premature aging in RecQ helicase-deficient human syndromes.
  Journal
Int J Biochem Cell Biol 34:1496-501 (2002)
DOI:10.1016/S1357-2725(02)00039-0
Reference
  Authors
Multani AS, Chang S
  Title
WRN at telomeres: implications for aging and cancer.
  Journal
J Cell Sci 120:713-21 (2007)
DOI:10.1242/jcs.03397
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