"Zellweger Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D015211
|
| MeSH 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
|
| Concept/Terms |
Zellweger Syndrome- Zellweger Syndrome
- Zellweger's Syndrome
- Zellweger Disease
- Cerebro-Hepato-Renal Syndrome
- Cerebro Hepato Renal Syndrome
- Cerebrohepatorenal Syndrome
Zellweger Spectrum- Zellweger Spectrum
- Spectrum, Zellweger
- Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
- Zellweger Syndrome Spectrum
- PBD, ZSS
|
Below are MeSH descriptors whose meaning is more general than "Zellweger Syndrome".
- Diseases [C]
- Digestive System Diseases [C06]
- Liver Diseases [C06.552]
- Zellweger Syndrome [C06.552.970]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Zellweger Syndrome [C10.228.140.163.100.968]
- Male Urogenital Diseases [C12]
- Urologic Diseases [C12.777]
- Kidney Diseases [C12.777.419]
- Zellweger Syndrome [C12.777.419.978]
- Female Urogenital Diseases and Pregnancy Complications [C13]
- Female Urogenital Diseases [C13.351]
- Urologic Diseases [C13.351.968]
- Kidney Diseases [C13.351.968.419]
- Zellweger Syndrome [C13.351.968.419.978]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Abnormalities, Multiple [C16.131.077]
- Zellweger Syndrome [C16.131.077.970]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Zellweger Syndrome [C16.320.565.189.968]
- Peroxisomal Disorders [C16.320.565.663]
- Zellweger Syndrome [C16.320.565.663.970]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Zellweger Syndrome [C18.452.132.100.968]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Zellweger Syndrome [C18.452.648.189.968]
- Peroxisomal Disorders [C18.452.648.663]
- Zellweger Syndrome [C18.452.648.663.970]
Below are MeSH descriptors whose meaning is more specific than "Zellweger Syndrome".
This graph shows the total number of publications written about "Zellweger Syndrome" by people in this website by year, and whether "Zellweger Syndrome" was a major or minor topic of these publications.
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Below are the most recent publications written about "Zellweger Syndrome" by people in Profiles.