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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P33897 | ATP-binding cassette sub-family D member 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P48410 | ATP-binding cassette sub-family D member 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P34230 | Peroxisomal long-chain fatty acid import protein 1 | |
| P41909 | Peroxisomal long-chain fatty acid import protein 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001289 | Confusion |
| HP:0004302 | Functional motor deficit |
| HP:0000752 | Hyperactivity |
| HP:0002196 | Myelopathy |
| HP:0000618 | Blindness |
| HP:0002518 | Abnormal periventricular white matter morphology |
| HP:0001268 | Mental deterioration |
| HP:0007162 | Diffuse demyelination of the cerebral white matter |
| HP:0002061 | Lower limb spasticity |
| HP:0000317 | Facial myokymia |
