polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
Findings
No curated finding names polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.
Definition from the Mondo Disease Ontology (MONDO:0009092), read 2026-09-29. CC BY 4.0.
Features
28 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 adipose tissue morphologyHPOHP:0009124
- Very frequent (80% to 99% of cases)
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- ArthralgiaHPOHP:0002829
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- Bone cystHPOHP:0012062
- Very frequent (80% to 99% of cases)
- Bone painHPOHP:0002653
- Very frequent (80% to 99% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Very frequent (80% to 99% of cases)
- Developmental regressionHPOHP:0002376
- Very frequent (80% to 99% of cases)
- DisinhibitionHPOHP:0000734
- Very frequent (80% to 99% of cases)
- Frontal lobe dementiaHPOHP:0000727
- Very frequent (80% to 99% of cases)
- IrritabilityHPOHP:0000737
- Very frequent (80% to 99% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Very frequent (80% to 99% of cases)
Show the remaining 16
- Memory impairmentHPOHP:0002354
- Very frequent (80% to 99% of cases)
- Personality changesHPOHP:0000751
- Very frequent (80% to 99% of cases)
- Reduced bone mineral densityHPOHP:0004349
- Very frequent (80% to 99% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
- VentriculomegalyHPOHP:0002119
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
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.
Where it sits
Other names
5 names
Resolves to: polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
- Also called
- Nasu-Hakola diseaseNHDPLO-SLPLOSLpolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy