Nasu-Hakola disease
MeSH: C536329ORPHA: 2770
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Nasu-Hakola disease, sourced from HPO and Orphanet clinical annotations.
HydrocephalusOculomotor apraxiaAtypical behaviorFrontal lobe dementiaDisinhibitionIrritabilityPersonality changesSeizureSpasticityLimitation of joint mobilityChoreaVentriculomegalyCerebral cortical atrophyAbnormal speech patternMemory impairmentDevelopmental regressionAcute leukemiaCerebral calcificationSkeletal dysplasiaBone painArthralgiaReduced bone mineral densityAbnormal epiphysis morphologyAbnormal adipose tissue morphologyDisturbed sensory perceptionBone cystFunctional abnormality of the gastrointestinal tractAbnormality of movement
Classification & Codes
MeSH Code
C536329Orphanet Code
ORPHA:2770Nasu-Hakola disease
| MeSH | C536329 |
| Orphanet | ORPHA:2770 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO