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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 |
|---|---|---|---|
| 3558 | IL2 | interleukin 2 | |
| 5824 | PEX19 | peroxisomal biogenesis factor 19 | |
| 5825 | ABCD3 | ATP binding cassette subfamily D member 3 | |
| 6342 | SCP2 | sterol carrier protein 2 | |
| 8504 | PEX3 | peroxisomal biogenesis factor 3 | |
| 8799 | PEX11B | peroxisomal biogenesis factor 11 beta |
