adrenoleukodystrophy
Findings
No curated finding names adrenoleukodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.
Definition from the Mondo Disease Ontology (MONDO:0018544), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
40 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.
- Abnormality of metabolism/homeostasisHPOHP:0001939
- Very frequent (80% to 99% of cases)
- Abnormality of visionHPOHP:0000504
- Very frequent (80% to 99% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- ClumsinessHPOHP:0002312
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
Show the remaining 28
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Leg muscle stiffnessHPOHP:0008969
- Very frequent (80% to 99% of cases)
- ParaparesisHPOHP:0002385
- Very frequent (80% to 99% of cases)
- Progressive hearing impairmentHPOHP:0001730
- Very frequent (80% to 99% of cases)
- Progressive spastic paraparesisHPOHP:0007199
- Very frequent (80% to 99% of cases)
- Somatic sensory dysfunctionHPOHP:0003474
Genes
2 genes
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 · ClinGen · X-linked · 2020
- Definitive · G2P · X-linked · 2022
- Definitive · Natera · X-linked recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- SCDHGNC:10571
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
12 names
Resolves to: adrenoleukodystrophy
- Also called
- ABCD1 deficiencyadrenoleukodystrophy, X-linkedadrenoleukodystrophy, X-linked recessiveadrenomyeloneuropathy, adultadrenomyeloneuropathy, adult, X-linked recessiveALDBronze-Schilder diseasediffuse cerebral sclerosis of SchilderSiemerling-Creutzfeldt diseaseX-ALDX-Linked AdrenoleukodystrophyX-linked ALD