Gaucher's disease type I
ORPHA: 77259
Overview
Gaucher's disease characterized by absence of primary central nervous system involvement that has material basis in a 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 I, sourced from HPO and Orphanet clinical annotations.
Delayed pubertyOsteopeniaOsteoporosisGrowth delaySplenomegalyHypersplenismAnorexiaHepatomegalyBone painDelayed skeletal maturationOsteolysisDecreased beta-glucocerebrosidase levelAvascular necrosisGingival bleedingBruising susceptibilityHepatosplenomegalyThrombocytopeniaPancytopeniaAnemiaAbnormality of coagulationAbdominal painIncreased circulating ferritin concentrationPingueculaDepressionHematuriaCholelithiasisPortal hypertensionAscitesDecreased total leukocyte countAbnormal bleedingPulmonary arterial hypertensionSpinal cord compressionPathologic fractureOsteoarthritisVertebral compression fractureDecreased HDL cholesterol concentrationShort statureErlenmeyer flask deformity of the femursBiliary tract obstructionAbnormal pulmonary interstitial morphologyMultiple myelomaSensorimotor neuropathyIncreased circulating immunoglobulin concentrationElevated circulating CCL18 levelSplenic infarctionParkinsonismCirrhosisHepatic failureSplenic rupture
Classification & Codes
Orphanet Code
ORPHA:77259Gaucher's disease type I
| Orphanet | ORPHA:77259 |
| Treatments | 0 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO