Zellweger syndrome is a rare congenital disorder involving the reduction or absence of functional peroxisomes in the cells of an individual. It belongs to a family of conditions known as Zellweger spectrum disorders, classified as leukodystrophies. The condition is named after Hans Zellweger, a Swiss-American pediatrician and professor of pediatrics and genetics at the University of Iowa who conducted research on the disease.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Sources
1. World Health Organization: ICD-10 Version:2019 - Q87.8
World Health OrganizationICD-10 2019 category Q87.8, Chapter XVIIQuote, ICD-10 2019 category Q87.8, Chapter XVII
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified Incl.: Syndrome: Alport Laurence-Moon(-Bardet)-Biedl Zellweger
2. Zellweger syndrome (Wikipedia)
- Wikipedia intro: Zellweger syndrome: 'rare congenital disorder'
Article text
Zellweger syndrome is an autosomal recessive disorder caused by mutations in genes that encode peroxins, proteins required for the normal assembly of peroxisomes.
View the SourceNational Library of Medicine: MeSH Descriptor Data: Zellweger Syndrome
National Library of MedicineMeSH tree number C12.200.777.419.978
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.
MeSH tree number C06.552.970
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.
MeSH tree number C10.228.140.163.100.968
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.
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