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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|
| 215 | ABCD1 | ATP binding cassette subfamily D member 1 | |
| 225 | ABCD2 | ATP binding cassette subfamily D member 2 | |
| 4313 | MMP2 | matrix metallopeptidase 2 | |
| 4318 | MMP9 | matrix metallopeptidase 9 | |
| 5825 | ABCD3 | ATP binding cassette subfamily D member 3 | |
| 7076 | TIMP1 | TIMP metallopeptidase inhibitor 1 | |
| 23205 | ACSBG1 | acyl-CoA synthetase bubblegum family member 1 | |
| 64834 | ELOVL1 | ELOVL fatty acid elongase 1 | |
| 79993 | ELOVL7 | ELOVL fatty acid elongase 7 | |
| 81616 | ACSBG2 | acyl-CoA synthetase bubblegum family member 2 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 11666 | Abcd1 | ATP-binding cassette, sub-family D member 1 | |
| 17390 | Mmp2 | matrix metallopeptidase 2 | |
| 17395 | Mmp9 | matrix metallopeptidase 9 | |
| 19299 | Abcd3 | ATP-binding cassette, sub-family D member 3 | |
| 21857 | Timp1 | tissue inhibitor of metalloproteinase 1 | |
| 26874 | Abcd2 | ATP-binding cassette, sub-family D member 2 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 25270 | Abcd3 | ATP binding cassette subfamily D member 3 | |
| 81686 | Mmp2 | matrix metallopeptidase 2 | |
| 81687 | Mmp9 | matrix metallopeptidase 9 | |
| 84356 | Abcd2 | ATP binding cassette subfamily D member 2 | |
| 116510 | Timp1 | TIMP metallopeptidase inhibitor 1 | |
| 363516 | Abcd1 | ATP binding cassette subfamily D member 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008207 | Primary adrenal insufficiency |
| HP:0009830 | Peripheral neuropathy |
| HP:0010527 | Astereognosis |
| HP:0010794 | Impaired visuospatial constructive cognition |
| HP:0011448 | Ankle clonus |
| HP:0012501 | Abnormal brainstem white matter morphology |
| HP:0000012 | Urinary urgency |
| HP:0000016 | Urinary retention |
| HP:0000020 | Urinary incontinence |
| HP:0000764 | Peripheral axonal degeneration |
