Cockayne Syndrome
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.
Year introduced: 1991(1981)
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Subheadings:
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
MeSH Unique ID: D003057
Entry Terms:
- Syndrome, Cockayne
- Progeria-Like Syndrome
- Progeria Like Syndrome
- Progeria-Like Syndromes
- Syndrome, Progeria-Like
- Progeroid Nanism
- Dwarfism-Retinal Atrophy-Deafness Syndrome
- Cockayne Syndrome, Type II
- Type II Cockayne Syndrome
- Group B Cockayne Syndrome
- Type B Cockayne Syndrome
- Cockayne Syndrome, Group B
- Cockayne Syndrome, Type B
- Cockayne Syndrome, Type III
- Cockayne Syndrome Type C
- Type III Cockayne Syndrome
- Cockayne Syndrome, Type C
- Group C Cockayne Syndrome
- Type C Cockayne Syndrome
- Cockayne Syndrome Type 3
- Cockayne Syndrome, Group C
- Cockayne Syndrome, Type I
- Type I Cockayne Syndrome
- Group A Cockayne Syndrome
- Type A Cockayne Syndrome
- Cockayne Syndrome, Group A
- Cockayne Syndrome, Type A
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