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CEREBROHEPATORENAL 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
C10.228.140.163.100.680.970
C12.777.419.978
C13.351.968.419.978
C16.131.077.970
C16.320.565.189.680.970
C16.320.565.663.970
C18.452.132.100.680.970
C18.452.648.189.680.970
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
:
blood
cerebrospinal fluid
chemically induced
classification
complications
diet therapy
diagnosis
drug therapy
economics
ethnology
embryology
enzymology
epidemiology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
pathology
prevention & control
physiopathology
parasitology
psychology
radiography
rehabilitation
radionuclide imaging
radiotherapy
surgery
therapy
ultrastructure
urine
ultrasonography
veterinary
virology
Record Number:
23866
Unique Identifier:
D015211
Occurrence in VHL
:
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