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ZELLWEGER SYNDROME
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DeCS
Descriptor
English
:
Zellweger Syndrome
Descriptor
Spanish
:
Síndrome de Zellweger
Descriptor
Portuguese
:
Síndrome de Zellweger
Synonyms
English
:
Cerebrohepatorenal Syndrome
Zellweger-Like Syndrome
Tree Number:
C06.552.970
C10.228.140.163.100.968
C12.777.419.978
C13.351.968.419.978
C16.131.077.970
C16.320.565.189.968
C16.320.565.663.970
C18.452.132.100.968
C18.452.648.189.968
C18.452.648.663.970
Definition
English
:
An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin
proteins
of the peroxisomal membrane and matrix.
Zellweger syndrome
is typically seen in the neonatal period with features such as dysmorphic skull;
MUSCLE HYPOTONIA
;
SENSORINEURAL HEARING LOSS
; visual compromise;
SEIZURES
; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like
syndrome
refers to phenotypes resembling the neonatal
Zellweger syndrome
but seen in children or adults with apparently intact peroxisome biogenesis.
History Note
English
:
1989
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:
23866
Unique Identifier:
D015211
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS