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Disease Zellweger Syndrome

Name Zellweger Syndrome
Synonyms Cerebrohepatorenal Syndrome | Cerebro Hepato Renal Syndrome | Cerebro-Hepato-Renal Syndrome | CEREBROHEPATORENAL SYNDROME;CHR PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 1, INCLUDED | CG1, INCLUDED | CGE, INCLUDED | PBD1A | PBD, ZSS | PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP E, INCLUDED | Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum | Spectrum, Zellweger | Zellweger Disease | Zellweger Like Syndrome | Zellweger-Like Syndrome | Zellweger Spectrum | Zellweger's Syndrome | Zellweger Syndrome Spectrum | ZS | ZWS
Definition 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.
Categories Congenital abnormality | Digestive system disease | Genetic disease (inborn) | Metabolic disease | Nervous system disease | Urogenital disease (female) | Urogenital disease (male)
MeSH® ID D015211
OMIM® ID 214100
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Top ↑ Ancestors

1. DiseasesDigestive System Diseases Has associated chemicals Has associated genes Has associated exposure references Liver Diseases Has associated chemicals Has associated genes Has associated exposure references Zellweger Syndrome Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Zellweger Syndrome Has associated chemicals Has associated genes
3. DiseasesMale Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urologic Diseases Has associated chemicals Has associated genes Has associated exposure references Kidney Diseases Has associated chemicals Has associated genes Has associated exposure references Zellweger Syndrome Has associated chemicals Has associated genes
4. DiseasesFemale Urogenital Diseases and Pregnancy Complications Has associated chemicals Has associated genes Has associated exposure references Female Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urologic Diseases Has associated chemicals Has associated genes Has associated exposure references Kidney Diseases Has associated chemicals Has associated genes Has associated exposure references Zellweger Syndrome Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Zellweger Syndrome Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Zellweger Syndrome Has associated chemicals Has associated genes
7. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Peroxisomal Disorders Has associated chemicals Has associated genes Zellweger Syndrome Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Zellweger Syndrome Has associated chemicals Has associated genes
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Zellweger Syndrome Has associated chemicals Has associated genes
10. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Peroxisomal Disorders Has associated chemicals Has associated genes Zellweger Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Zellweger Syndrome Has associated chemicals Has associated genes
  Cerebrohepatorenal Syndrome, Variant Types
  Pseudo-Zellweger syndrome
  Zellweger leukodystrophy