Gaucher disease type III
Findings
No curated finding names Gaucher disease type III yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.
Definition from the Mondo Disease Ontology (MONDO:0009267), read 2026-09-29. CC BY 4.0.
- Onset and course
- Adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
40 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Avascular necrosisHPOHP:0010885
- Very frequent (80% to 99% of cases)
- EncephalopathyHPOHP:0001298
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- Increased susceptibility to fracturesHPOHP:0002659
- Very frequent (80% to 99% of cases)
- OphthalmoplegiaHPOHP:0000602
- Very frequent (80% to 99% of cases)
- Osteolysis
Show the remaining 28
- Calcification of the aortaHPOHP:0004963
- Frequent (30% to 79% of cases)
- Delayed pubertyHPOHP:0000823
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
- DementiaHPOHP:0000726
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Generalized myoclonic seizureHPOHP:0002123
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GBA1HGNC:4177
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: Gaucher disease type III
- Also called
- cerebral juvenile and adult form of Gaucher diseasechronic neuronopathic Gaucher diseaseGaucher disease, chronic neuronopathic typeGaucher disease, juvenile and adult, cerebralGaucher disease, Subacute neuronopathic typeGaucher's disease type III