Gaucher disease type II
Findings
No curated finding names Gaucher disease type II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
Definition from the Mondo Disease Ontology (MONDO:0009266), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy · Infantile onset
HPO, annotations 2026-09-02
Features
45 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.
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Abnormal pattern of respirationHPOHP:0002793
- Very frequent (80% to 99% of cases)
- DysphagiaHPOHP:0002015
- 1 of 2 reported patients
- Very frequent (80% to 99% of cases)
- DystoniaHPOHP:0001332
- Very frequent (80% to 99% of cases)
- EncephalopathyHPOHP:0001298
- Very frequent (80% to 99% of cases)
Show the remaining 33
- AnemiaHPOHP:0001903
- 1 of 2 reported patients
- Frequent (30% to 79% of cases)
- Decreased beta-glucocerebrosidase levelHPOHP:0003656
- Frequent (30% to 79% of cases)
- DyspneaHPOHP:0002094
- Frequent (30% to 79% of cases)
- Flexion contractureHPOHP:0001371
- Frequent (30% to 79% of cases)
- Generalized myoclonic seizureHPOHP:0002123
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- 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
4 names
Resolves to: Gaucher disease type II
- Also called
- acute neuronopathic Gaucher diseaseGaucher disease, acute neuronopathic typeGaucher's disease type IIinfantile cerebral Gaucher disease