X-linked cerebral adrenoleukodystrophy
MONDO:0010247Mondo
Findings
No curated finding names X-linked cerebral adrenoleukodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.
Definition from the Mondo Disease Ontology (MONDO:0010247), read 2026-09-29. CC BY 4.0.
Features
50 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CNS demyelinationHPOHP:0007305
- Very frequent (80% to 99% of cases)
- Decreased circulating cortisol levelHPOHP:0008163
- Very frequent (80% to 99% of cases)
- Diffuse demyelination of the cerebral white matterHPOHP:0007162
- Very frequent (80% to 99% of cases)
- Mental deteriorationHPOHP:0001268
- Very frequent (80% to 99% of cases)
- MyelopathyHPOHP:0002196
- Very frequent (80% to 99% of cases)
- Peripheral neuropathyHPOHP:0009830
- Very frequent (80% to 99% of cases)
- Primary adrenal insufficiencyHPOHP:0008207
- Very frequent (80% to 99% of cases)
- Very long chain fatty acid accumulationHPOHP:0008167
- Very frequent (80% to 99% of cases)
- Abnormal brainstem white matter morphologyHPOHP:0012501
- Frequent (30% to 79% of cases)
- Abnormal circulating fatty acid concentrationHPOHP:0004359
- Frequent (30% to 79% of cases)
- Abnormal periventricular white matter morphologyHPOHP:0002518
- Frequent (30% to 79% of cases)
- Abnormal spinal cord morphologyHPOHP:0002143
- Frequent (30% to 79% of cases)
Show the remaining 38
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Functional motor deficitHPOHP:0004302
- Frequent (30% to 79% of cases)
- Global brain atrophyHPOHP:0002283
- Frequent (30% to 79% of cases)
- Peripheral axonal neuropathyHPOHP:0003477
- Frequent (30% to 79% of cases)
- Sensorimotor neuropathyHPOHP:0007141
- Frequent (30% to 79% of cases)
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ABCD1HGNC:61
- Definitive · Laboratory for Molecular Medicine · X-linked · 2020
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of