Search on: ZELLWEGER SYNDROME 
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Descriptor English:   Zellweger Syndrome 
Descriptor Spanish:   Síndrome de Zellweger 
Descriptor Portuguese:   Síndrome de Zellweger 
Synonyms English:   Cerebro Hepato Renal Syndrome
Cerebro-Hepato-Renal Syndrome
Cerebrohepatorenal Syndrome
PBD, ZSS
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
Spectrum, Zellweger
Zellweger Disease
Zellweger Like Syndrome
Zellweger Spectrum
Zellweger Syndrome Spectrum
Zellweger's 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
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:   23866 
Unique Identifier:   D015211 

Occurrence in VHL: 		 

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