leukodystrophy
Findings
No curated finding names leukodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.
Definition from the Mondo Disease Ontology (MONDO:0019046), read 2026-09-29. CC BY 4.0.
Features
1 feature
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, hp/releases/2026-09-01.
- CNS hypomyelinationMondoHP:0003429
Genes
9 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.
- ACER3HGNC:16066
- Strong · PanelApp Australia · Autosomal recessive · 2025
- LAMB1HGNC:6486
- Strong · PanelApp Australia · Autosomal dominant · 2025
- TMEM163HGNC:25380
- Strong · PanelApp Australia · Autosomal dominant · 2025
- LSM7HGNC:20470
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- NOTCH1HGNC:7881
- Moderate · Ambry Genetics · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (66)
- adrenoleukodystrophy
- adult-onset progressive leukoencephalopathy-early-onset deafness
- Aicardi-Goutieres syndrome
- Alexander disease
- alkaline ceramidase 3 deficiency
- c11orf73-related autosomal recessive hypomyelinating leukodystrophy
- CADDS
- Canavan disease
- cerebrotendinous xanthomatosis
- cystic leukoencephalopathy without megalencephaly
- dermatoleukodystrophy
- early-onset calcifying leukoencephalopathy-skeletal dysplasia
- episodic memory defect leukoencephalopathy
- hereditary spastic paraplegia 2
- hypomyelination with brain stem and spinal cord involvement and leg spasticity
- Krabbe disease
- leukodystrophy, childhood-onset, remitting
- leukodystrophy, hypomyelinating, 10
- leukodystrophy, hypomyelinating, 12
Other names
1 name
Resolves to: leukodystrophy
- Also called
- hypomyelinating leukodystrophy