Gaucher's disease

MeSH: D005776ORPHA: 355

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

human disease characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body

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, sourced from HPO and Orphanet clinical annotations.

Abnormality of coagulationAbnormality of extrapyramidal motor functionPulmonary arterial hypertensionRespiratory insufficiencyVentriculomegalyOpisthotonusPulmonary fibrosisOsteomyelitisPathologic fractureOsteoarthritisOsteolysisArthrogryposis multiplex congenitaKyphosisDecreased HDL cholesterol concentrationPolyclonal elevation of IgMShort statureHemiplegia/hemiparesisAortic valve calcificationMitral valve calcificationAbnormal pulmonary interstitial morphologyMultiple myelomaCranial nerve paralysisSensorimotor neuropathyCorneal opacityIchthyosisIncreased circulating immunoglobulin concentrationCherry red spot of the maculaIncreased bone mineral densityElevated circulating C-reactive protein concentrationHepatitisParaproteinemiaHepatic failureSplenic ruptureSplenic infarctionSplenomegalyAnemiaHepatomegalyDecreased beta-glucocerebrosidase levelFatigueStrabismusDepressionDelayed pubertyAbnormality of the skeletal systemOsteopeniaCholelithiasisIntellectual disabilityAtaxiaJoint dislocationGrowth delayThrombocytopeniaDecreased total leukocyte countFeverDysphagiaAbdominal painBilateral tonic-clonic seizureGeneralized myoclonic seizureDevelopmental regressionBone painDelayed skeletal maturationRecurrent fracturesArthralgiaIncreased circulating ferritin concentrationAbnormal bone structureErlenmeyer flask deformity of the femursFeeding difficulties in infancyAvascular necrosisElevated circulating CCL18 levelAbnormality of movementElevated circulating Angiotensin-converting enzyme concentrationProteinuriaGingival bleedingHydrocephalusHearing impairmentRetinopathyOculomotor apraxiaDementiaHematuriaOsteoporosisAbnormality of skin pigmentationAbnormal macular morphologyHypotoniaParkinsonismTremorJoint stiffnessCirrhosisHepatic fibrosisAbnormal myocardium morphologyAbnormal heart valve morphologyAbnormal pericardium morphologyHydrops fetalisPancytopeniaAbnormal bleeding

Classification & Codes

MeSH Code

D005776

Orphanet Code

ORPHA:355

Gaucher's disease

MeSH	`D005776`
Orphanet	`ORPHA:355`
Treatments	0 drug(s)
Symptoms on record	92 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO