What's Gaucher disease?
Gaucher disease is an inherited (autosomal recessive) lysosomal storage disorder caused by deficiency of the enzyme glucocerebrosidase. The enzyme shortfall lets a fatty substance (glucosylceramide) build up inside immune cells called macrophages, which collect in the spleen, liver, and bone marrow.
| Also indexed as | ORPHA:355, MONDO:0018150 |
|---|---|
| Features mapped | 11 |
| Treatments mapped | 2 |
| Published sources | 12 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Thrombocytopenia
A low platelet count (thrombocytopenia) is a cardinal feature of Gaucher disease and can lead to easy bruising or bleeding.
Anemia
Low red blood cell counts (anemia) are a cardinal feature of Gaucher disease.
Splenomegaly
An enlarged spleen (splenomegaly) is one of the most common signs of Gaucher disease, from buildup of Gaucher cells.
Hepatomegaly
An enlarged liver (hepatomegaly) is common in Gaucher disease and results from the same cell buildup.
Bone pain
Bone pain is a cardinal feature of Gaucher disease, reflecting involvement of the bone marrow and skeleton.
Fatigue
Fatigue is a cardinal feature of Gaucher disease and a major contributor to reduced quality of life.
Erlenmeyer flask deformity of the femurs
The bone changes of Gaucher disease can include the Erlenmeyer flask deformity, a widening of the lower thigh bone seen on X-ray.
Osteopenia
Gaucher disease commonly weakens the bones, including reduced bone density (osteopenia and osteoporosis).
Recurrent fractures
Severe bone involvement in Gaucher disease can include broken bones (pathological fractures), along with bone infarcts and areas of bone death (avascular osteonecrosis).
Avascular necrosis
Bone is a major site of Gaucher disease. Loss of blood supply to bone (bone infarction, or avascular necrosis) can cause sudden, severe bone pain and lasting joint damage.
Decreased beta-glucocerebrosidase level
Gaucher disease is defined by low activity of the enzyme glucocerebrosidase. Measuring this low activity is how the diagnosis is confirmed.
How it is diagnosed
Gaucher disease
Diagnosed using: Acid glucocerebrosidase enzyme activity assay.
“A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in…”
Gaucher disease
Diagnosed using: glucocerebrosidase enzyme activity assay.
“…definitive diagnosis is only made by determining the catalytic activity of the lysosomal enzyme glucocerebrosidase.”
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
Imiglucerase
Imiglucerase is an intravenous enzyme replacement therapy (a recombinant human glucocerebrosidase) that improves systemic features of Gaucher disease such as enlarged liver and spleen, anemia, low platelets, and bone abnormalities in type 1 and type 3 disease.
Used to help with: Gaucher disease.
“Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT) using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase).”
Eliglustat
Eliglustat is an oral substrate reduction therapy for Gaucher disease type 1. It is a potent, selective inhibitor of glucosylceramide synthase, which lowers production of the glycosphingolipids that accumulate in the disease.
Used to help with: Gaucher disease.
“Eliglustat tartrate is a new substrate reduction therapy for GD, which acts as a specific and potent inhibitor of glucosylceramide synthase and can be administered orally.”
What changes how it shows up
Carrying the genetic change is not the whole story. The factors below are described in the research mapped here as changing whether, or how strongly, the condition appears. They modulate how the genotype is expressed; they do not, on their own, cause or cure it.
autosomal recessive inheritance
Gaucher disease is inherited in an autosomal recessive pattern.
Described as modulating: Gaucher disease.
“Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder.”
type 1 / type 2 / type 3 classification
Gaucher disease is classified into three types: type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic).
Described as modulating: Gaucher disease.
“Gaucher's disease is classified into three types: type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic).”
Ashkenazi Jewish prevalence (type 1)
Type 1 is the most common form of Gaucher disease and is especially prevalent among people of Ashkenazi Jewish ancestry.
Described as modulating: Gaucher disease.
“…type 1 is the most common, affecting one in 40,000-200,000 people and having a high prevalence among Ashkenazi…”
GBA1 mutation and Parkinson disease risk
Gaucher disease is caused by GBA1 gene changes in both copies; carrying a change in a single copy does not cause Gaucher disease but raises the risk of Parkinson disease.
Described as modulating: Gaucher disease.
“GBA1 variants cause Gaucher's disease (GD) in biallelic forms and increase Parkinson's disease (PD) risk in heterozygous…”
How to read the evidence labels
Where this comes from
This guide is built from 12 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.