Gaucher's disease type III
ORPHA: 77261
Overview
Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22
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 Gaucher's disease type III, sourced from HPO and Orphanet clinical annotations.
StrabismusOphthalmoplegiaEncephalopathySplenomegalyHepatomegalyBone painIncreased susceptibility to fracturesOsteolysisAvascular necrosisFatigueDementiaDelayed pubertyOsteopeniaSeizureAtaxiaGait disturbanceGrowth delayHydrops fetalisThrombocytopeniaPancytopeniaAnemiaGeneralized myoclonic seizureDelayed skeletal maturationCalcification of the aortaSlowed horizontal saccadesIncreased circulating immunoglobulin concentrationIncreased bone mineral densityProteinuriaAbnormality of the dentitionAnodontiaHematuriaAbnormal myocardium morphologyAbnormal heart valve morphologyPericardial effusionPulmonary arterial hypertensionRecurrent respiratory infectionsShort statureAortic valve calcificationMitral valve calcificationAbnormal pulmonary interstitial morphology
Classification & Codes
Orphanet Code
ORPHA:77261Gaucher's disease type III
| Orphanet | ORPHA:77261 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO