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PROGERIA-LIKE SYNDROME
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DeCS
Descriptor
English
:
Cockayne Syndrome
Descriptor
Spanish
:
Síndrome de Cockayne
Descriptor
Portuguese
:
Síndrome de Cockayne
Synonyms
English
:
Progeria-Like 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
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
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
3087
Unique Identifier:
D003057
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS