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ORPHA:355Disease
Also called Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency
What it is
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).
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- All ages
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
30- Abdominal pain
- Abnormal bone structure
- Abnormality of movement
- Abnormality of the skeletal system
- Arthralgia
- Ataxia
- Avascular necrosis
- Bilateral tonic-clonic seizure
- Bone pain
- Cholelithiasis
- Delayed puberty
- Delayed skeletal maturation
- Depression
- Developmental regression
- Dysphagia
- Elevated circulating Angiotensin-converting enzyme concentration
- Elevated circulating CCL18 level
- Erlenmeyer flask deformity of the femurs
- Feeding difficulties in infancy
- Fever
- Generalized myoclonic seizure
- Growth delay
- Increased circulating ferritin concentration
- Intellectual disability
- Joint dislocation
- Leukopenia
- Osteopenia
- Recurrent fractures
- Strabismus
- Thrombocytopenia
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes reported in subtypes
Orphanet records these genes on 6 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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