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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:0010284 | Intra-oral hyperpigmentation |
| HP:0011749 | Adrenocorticotropic hormone excess |
| HP:0012378 | Fatigue |
| HP:0012534 | Dysesthesia |
| HP:0100291 | Delayed somatosensory central conduction time |
| HP:0100502 | Decreased circulating vitamin B12 concentration |
| HP:0100543 | Cognitive impairment |
| HP:0100639 | Erectile dysfunction |
| HP:0100816 | Lip hyperpigmentation |
| HP:0001350 | Slurred speech |
