Diseases

Zellweger Syndrome

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

Synonyms

12 entry terms
  • Cerebro-Hepato-Renal Syndrome
  • Cerebrohepatorenal Syndrome
  • Zellweger Disease
  • Zellweger's Syndrome
  • Cerebro Hepato Renal Syndrome
  • PBD, ZSS
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  • Zellweger Spectrum
  • Zellweger Syndrome Spectrum
  • Zellweger-Like Syndrome
  • Spectrum, Zellweger
  • Zellweger Like Syndrome

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

1989

MeSH Record

Previous Indexing

  • Abnormalities, Multiple (1968-1988)
  • Brain Diseases (1966-1988)
  • Kidney Diseases (1966-1988)
  • Liver Diseases (1966-1988)

MeSH Hierarchy

Tree Numbers

  1. C06w.552w.970w
  2. C10w.228w.140w.163.100.968w
  3. C12.050.351.968w.419w.978w
  4. C12.200.777w.419w.978w
  5. C12.950w.419w.978w
  6. C16w.131w.077w.970w
  7. C16w.320w.565w.189.968w
  8. C16w.320w.565w.663w.970w
  9. C18.452w.132.100.968w
  10. C18.452w.648w.189.968w
  11. C18.452w.648w.663w.970w

AMA Style

References

  1. National Library of Medicine. Zellweger Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D015211. http://id.nlm.nih.gov/mesh/2026/D015211
  2. Zellweger Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Zellweger_syndrome
  3. Zellweger Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q189167