Gaucher disease
Findings
No curated finding names Gaucher disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).
Definition from the Mondo Disease Ontology (MONDO:0018150), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
92 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.
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- Decreased beta-glucocerebrosidase levelHPOHP:0003656
- 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)
- SplenomegalyHPOHP:0001744
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
- Abnormal bone structure
Show the remaining 80
- Bilateral tonic-clonic seizureHPOHP:0002069
- Frequent (30% to 79% of cases)
- Bone painHPOHP:0002653
- Frequent (30% to 79% of cases)
- CholelithiasisHPOHP:0001081
- Frequent (30% to 79% of cases)
- Decreased total leukocyte countHPOHP:0001882
- 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)
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
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2019
- Definitive · Natera · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
7 names
Resolves to: Gaucher disease
- Also called
- acid beta-glucosidase deficiencyGaucher syndromeglucocerebrosidase deficiencyglucocerebrosidosisglucosylceramidase deficiencyglucosylceramide beta-glucosidase deficiencylipoid histiocytosis (kerasin type)