Search on: COCKAYNE SYNDROME 
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Descriptor English:   Cockayne Syndrome 
Descriptor Spanish:   síndrome de Cockayne 
Descriptor Portuguese:   Síndrome de Cockayne 
Synonyms English:   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
Progeria-Like Syndrome
Progeria-Like Syndromes
Progeroid Nanism
Syndrome, Cockayne
Syndrome, Progeria-Like
Type A Cockayne Syndrome
Type B Cockayne Syndrome
Type C Cockayne Syndrome
Type I Cockayne Syndrome
Type II Cockayne Syndrome
Type III Cockayne Syndrome  
Tree Number:   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
Definition English:   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 Related English:   Intellectual Disability
 
History Note English:   1991(1981); use DWARFISM 1981-1990 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   3087 
Unique Identifier:   D003057 

Occurrence in VHL:
 

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