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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 |
|---|---|---|---|
| 79143 | MBOAT7 | membrane bound O-acyltransferase domain containing 7 | |
| 79623 | GALNT14 | polypeptide N-acetylgalactosaminyltransferase 14 | |
| 79709 | COLGALT1 | collagen beta(1-O)galactosyltransferase 1 | |
| 79993 | ELOVL7 | ELOVL fatty acid elongase 7 | |
| 80339 | PNPLA3 | patatin like phospholipase domain containing 3 | |
| 81616 | ACSBG2 | acyl-CoA synthetase bubblegum family member 2 | |
| 129642 | MBOAT2 | membrane bound O-acyltransferase domain containing 2 | |
| 150763 | GPAT2 | glycerol-3-phosphate acyltransferase 2, mitochondrial | |
| 151056 | PLB1 | phospholipase B1 | |
| 161357 | MDGA2 | MAM domain containing glycosylphosphatidylinositol anchor 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NRA2 | Sialin | |
| Q9NST1 | 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 | |
| Q9Y259 | Choline/ethanolamine kinase |
