"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
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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
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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.
To see the data from this visualization as text,
click here.
Year | Major Topic | Minor Topic | Total |
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1995 | 1 | 0 | 1 |
1996 | 0 | 1 | 1 |
1997 | 1 | 0 | 1 |
1998 | 1 | 1 | 2 |
2000 | 0 | 1 | 1 |
2004 | 2 | 0 | 2 |
To return to the timeline,
click here.
Below are the most recent publications written about "Zellweger Syndrome" by people in Profiles.
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Inhibition of peroxisomal functions due to oxidative imbalance induced by mistargeting of catalase to cytoplasm is restored by vitamin E treatment in skin fibroblasts from Zellweger syndrome-like patients. Mol Genet Metab. 2004 Dec; 83(4):297-305.
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Mass spectrometric analysis of ceramide perturbations in brain and fibroblasts of mice and human patients with peroxisomal disorders. Rapid Commun Mass Spectrom. 2004; 18(14):1569-74.
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Characterization of fibroblast cytoplasmic proteins that bind to the 3' UTR of human catalase mRNA. Mol Cell Biochem. 2000 Jun; 209(1-2):9-15.
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Localization of nervonic acid beta-oxidation in human and rodent peroxisomes: impaired oxidation in Zellweger syndrome and X-linked adrenoleukodystrophy. J Lipid Res. 1998 Nov; 39(11):2161-71.
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Abnormality in catalase import into peroxisomes leads to severe neurological disorder. Proc Natl Acad Sci U S A. 1998 Mar 17; 95(6):2961-6.
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Biochemical features of a patient with Zellweger-like syndrome with normal PTS-1 and PTS-2 peroxisomal protein import systems: a new peroxisomal disease. Biochem Mol Med. 1997 Aug; 61(2):198-207.
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Epoxide hydrolase in human and rat peroxisomes: implication for disorders of peroxisomal biogenesis. J Lipid Res. 1996 Jan; 37(1):159-67.
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Effect of hypoxia-reoxygenation on peroxisomal functions in cultured human skin fibroblasts from control and Zellweger syndrome patients. Free Radic Res. 1995 Jan; 22(1):39-46.
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Purification of peroxisomes and subcellular distribution of enzyme activities for activation and oxidation of very-long-chain fatty acids in rat brain. Biochim Biophys Acta. 1993 Sep 29; 1170(1):44-52.
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Phytanic acid alpha-oxidation. Differential subcellular localization in rat and human tissues and its inhibition by nycodenz. J Biol Chem. 1993 May 15; 268(14):9972-9.