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Cockayne Syndrome

More information in Books or onNLM PubMed
Definition: A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.     
See Also Intellectual Disability
Other names Progeria-Like Syndrome; Syndrome, Progeria-Like; Syndrome, Cockayne; Progeria-Like Syndromes; Progeria Like Syndrome; Type III Cockayne Syndrome; Type II Cockayne Syndrome; Type I Cockayne Syndrome; Type C Cockayne Syndrome; Type B Cockayne Syndrome; Type A Cockayne Syndrome; Group C Cockayne Syndrome; Group B Cockayne Syndrome; Group A Cockayne Syndrome; Cockayne Syndrome, Type III; Cockayne Syndrome, Type II; Cockayne Syndrome, Type I; Cockayne Syndrome, Type C; Cockayne Syndrome, Type B; Cockayne Syndrome, Type A
 
SubstanceCAS Registry & nameCategoriesSource
Ckn1 protein, mouse  0   *Proteins Cockayne Syndrome.
ERCC8 protein, human  0   *Transcription Factors *DNA Repair Enzymes Cockayne Syndrome. Cell 1995 Aug 25;82(4):555-64
ERCC6 protein, human  EC 3.6.1.-   *DNA Helicases *DNA Repair Enzymes Cockayne Syndrome DNA Repair. Cell 1992 Dec 11;71(6):939-53

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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