adrenomyeloneuropathy
Findings
No curated finding names adrenomyeloneuropathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN.
Definition from the Mondo Disease Ontology (MONDO:0015339), read 2026-09-29. CC BY 4.0.
Features
49 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.
- Abnormal circulating fatty acid concentrationHPOHP:0004359
- Very frequent (80% to 99% of cases)
- Abnormal spinal cord morphologyHPOHP:0002143
- Very frequent (80% to 99% of cases)
- Abnormality of peripheral nervous system electrophysiologyHPOHP:0030177
- Very frequent (80% to 99% of cases)
- Axonal degenerationHPOHP:0040078
- Very frequent (80% to 99% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Very frequent (80% to 99% of cases)
- Distal sensory impairmentHPOHP:0002936
- Very frequent (80% to 99% of cases)
- Impaired continenceHPOHP:0031064
- Very frequent (80% to 99% of cases)
- Peripheral axonal degenerationHPOHP:0000764
- Very frequent (80% to 99% of cases)
- Progressive spastic paraparesisHPOHP:0007199
- Very frequent (80% to 99% of cases)
- Abnormal libidoHPOHP:0031845
- Frequent (30% to 79% of cases)
- Abnormal skin pigmentationHPOHP:0001000
- Frequent (30% to 79% of cases)
- Adrenocortical abnormalityHPOHP:0000849
- Frequent (30% to 79% of cases)
Show the remaining 37
- Adrenocorticotropic hormone excessHPOHP:0011749
- Frequent (30% to 79% of cases)
- Atrophy of the spinal cordHPOHP:0006827
- Frequent (30% to 79% of cases)
- Atrophy/Degeneration involving the corticospinal tractsHPOHP:0007372
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Bowel incontinenceHPOHP:0002607
- Frequent (30% to 79% of cases)
- Brain imaging abnormalityHPOHP:0410263
- 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
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
1 name
Resolves to: adrenomyeloneuropathy
- Also called
- AMN