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Cockayne Syndrome MeSH Descriptor Data 2021


MeSH Heading
Cockayne Syndrome
Tree Number(s)
C05.116.099.343.250
C10.574.500.362
C16.131.077.250
C16.320.240.562
C16.320.400.200
C18.452.284.250
Unique ID
D003057
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D003057
Scope Note
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.
Entry Term(s)
Cockayne Syndrome Type 3
Cockayne Syndrome Type C
Cockayne Syndrome, Group A
Cockayne Syndrome, Group B
Cockayne Syndrome, Group C
Cockayne Syndrome, Type A
Cockayne Syndrome, Type B
Cockayne Syndrome, Type C
Cockayne Syndrome, Type I
Cockayne Syndrome, Type II
Cockayne Syndrome, Type III
Dwarfism-Retinal Atrophy-Deafness Syndrome
Group A Cockayne Syndrome
Group B Cockayne Syndrome
Group C Cockayne Syndrome
Progeria-Like Syndrome
Progeroid Nanism
Type A Cockayne Syndrome
Type B Cockayne Syndrome
Type C Cockayne Syndrome
Type I Cockayne Syndrome
Type II Cockayne Syndrome
Type III Cockayne Syndrome
Previous Indexing
Dwarfism (1966-1980)
Photosensitivity Disorders (1966-1980)
See Also
Intellectual Disability
Public MeSH Note
1991; see DWARFISM 1981-1990
History Note
1991(1981); use DWARFISM 1981-1990
Date Established
1991/01/01
Date of Entry
1980/05/09
Revision Date
2013/07/08
Cockayne Syndrome Preferred
Cockayne Syndrome, Type II Narrower
Cockayne Syndrome, Type III Narrower
Cockayne Syndrome, Type I Narrower
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