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adrenoleukodystrophy
Summary
- Synonym
-
- ALD
- Bronze Schilder disease
- Encephalitis periaxialis concentrica
- Encephalitis periaxialis, Schilder's
- Siemerling-Creutzfeldt Disease
- X-linked adrenoleukodystrophy
- diffuse sclerosis
- sudanophilic cerebral sclerosis
- Definition
- A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
- Super Class
- X-linked recessive disease leukodystrophy
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1544 | CYP1A2 | cytochrome P450 family 1 subfamily A member 2 | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1559 | CYP2C9 | cytochrome P450 family 2 subfamily C member 9 | |
| 1571 | CYP2E1 | cytochrome P450 family 2 subfamily E member 1 | |
| 1576 | CYP3A4 | cytochrome P450 family 3 subfamily A member 4 | |
| 1589 | CYP21A2 | cytochrome P450 family 21 subfamily A member 2 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 1737 | DLAT | dihydrolipoamide S-acetyltransferase | |
| 1892 | ECHS1 | enoyl-CoA hydratase, short chain 1 | |
| 2262 | GPC5 | glypican 5 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NRA2 | Sialin | |
| Q9NST1 | 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 | |
| Q9Y259 | Choline/ethanolamine kinase |
