NLM Logo

Zellweger Syndrome MeSH Descriptor Data 2021


MeSH Heading
Zellweger Syndrome
Tree Number(s)
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
Unique ID
D015211
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D015211
Scope Note
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.
Entry Term(s)
Cerebro-Hepato-Renal Syndrome
Cerebrohepatorenal Syndrome
PBD, ZSS
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
Zellweger Disease
Zellweger Spectrum
Zellweger Syndrome Spectrum
Zellweger's Syndrome
Zellweger-Like Syndrome
Previous Indexing
Abnormalities, Multiple (1968-1988)
Brain Diseases (1966-1988)
Kidney Diseases (1966-1988)
Liver Diseases (1966-1988)
Public MeSH Note
1989
History Note
1989
Date Established
1989/01/01
Date of Entry
1988/05/04
Revision Date
2015/06/08
Zellweger Syndrome Preferred
Zellweger-Like Syndrome Related
Zellweger Spectrum Broader
page delivered in 0.212s