Gaucher's disease type II
ORPHA: 772601 Treatment Available
Overview
Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Imiglucerase Orphan Cold Chain | IV infusion, 200 units/vial, 400 units/vial | FDA Approved | 6 | 14d |
Clinical Presentation
Signs and symptoms associated with Gaucher's disease type II, sourced from HPO and Orphanet clinical annotations.
StrabismusOphthalmoplegiaSpasticityEncephalopathyDystoniaSplenomegalyDysphagiaHepatomegalyAbnormal pattern of respirationTrismusSupranuclear gaze palsyIrritabilitySeizureHypotoniaFlexion contractureThrombocytopeniaAnemiaVomitingDyspneaRespiratory distressGeneralized myoclonic seizureOpisthotonusRecurrent respiratory infectionsDecreased beta-glucocerebrosidase levelAbnormal pulmonary interstitial morphologyProgressive psychomotor deteriorationStridorLaryngospasmCardiac arrestNonimmune hydrops fetalisArthrogryposis multiplex congenitaCongenital nonbullous ichthyosiform erythrodermaIchthyosis
Classification & Codes
Orphanet Code
ORPHA:77260Gaucher's disease type II
| Orphanet | ORPHA:77260 |
| Treatments | 1 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO