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- Q914389 subject Q6500135.
- Q914389 subject Q6584894.
- Q914389 subject Q6853484.
- Q914389 subject Q6902466.
- Q914389 subject Q7215483.
- Q914389 subject Q7216518.
- Q914389 subject Q8795300.
- Q914389 abstract "Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging. Failure to thrive and neurological disorders are criteria for diagnosis, while photosensitivity, hearing loss, eye abnormalities, and cavities are other very common features. Problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies, which are conditions characterized by degradation of neurological white matter. The underlying disorder is a defect in a DNA repair mechanism. Unlike other defects of DNA repair, patients with CS are not predisposed to cancer or infection. Cockayne syndrome is a rare but destructive disease usually resulting in death within the first or second decade of life. The mutation of specific genes in Cockayne syndrome is known, but the widespread effects and its relationship with DNA repair is yet to be well understood.It is named after English physician Edward Alfred Cockayne (1880–1956) who first described it in 1936 and re-described in 1946. Neill-Dingwall syndrome was named after Mary M. Dingwall and Catherine A. Neill. These women described the case of two brothers with Cockayne syndrome and asserted it was the same disease described by Cockayne. In their article the women contributed to the symptoms of the disease through their discovery of calcifications in the brain. They also compared Cockayne syndrome to what is now known as Hutchinson-Gilford progeria syndrome (HGPS), then called progeria, due to the advanced aging that characterizes both disorders.".
- Q914389 icd10 "Q87.1(ILDSQ87.110)".
- Q914389 icd9 "759.8".
- Q914389 meshId "D003057".
- Q914389 omim "216400".
- Q914389 wikiPageExternalLink ghr.nlm.nih.gov.
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- Q914389 wikiPageWikiLink Q6500135.
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- Q914389 wikiPageWikiLink Q6584894.
- Q914389 wikiPageWikiLink Q6853484.
- Q914389 wikiPageWikiLink Q6902466.
- Q914389 wikiPageWikiLink Q7187.
- Q914389 wikiPageWikiLink Q7215483.
- Q914389 wikiPageWikiLink Q7216518.
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- Q914389 wikiPageWikiLink Q8795300.
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- Q914389 icd "759.8".
- Q914389 icd "Q87.1".
- Q914389 meshid "D003057".
- Q914389 name "Cockayne syndrome".
- Q914389 omim "216400".
- Q914389 type Disease.
- Q914389 type Thing.
- Q914389 type Q12136.
- Q914389 comment "Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging. Failure to thrive and neurological disorders are criteria for diagnosis, while photosensitivity, hearing loss, eye abnormalities, and cavities are other very common features.".
- Q914389 label "Cockayne syndrome".
- Q914389 name "Cockayne syndrome".