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Zellweger syndrome
Summary
- Synonym
-
- cerebrohepatorenal syndrome
- congenital iron overload
- Definition
- A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.
- Super Class
- autosomal recessive disease peroxisomal biogenesis disorder
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 30 | ACAA1 | acetyl-CoA acyltransferase 1 | |
| 847 | CAT | catalase | |
| 2819 | GPD1 | glycerol-3-phosphate dehydrogenase 1 | |
| 3295 | HSD17B4 | hydroxysteroid 17-beta dehydrogenase 4 | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 6342 | SCP2 | sterol carrier protein 2 | |
| 8309 | ACOX2 | acyl-CoA oxidase 2 | |
| 8443 | GNPAT | glyceronephosphate O-acyltransferase | |
| 8540 | AGPS | alkylglycerone phosphate synthase | |
| 51478 | HSD17B7 | hydroxysteroid 17-beta dehydrogenase 7 |
Related Glycoprotein
