Gaucher disease

Gaucher disease is an inherited disorder in which the body cannot break down a lipid called glucocerebroside.

Genetic changes are related to the following types of Gaucher disease.

• Gaucher disease, type 1
• Gaucher disease, type 2
• Gaucher disease, type 3
• pseudo-Gaucher disease

Major signs and symptoms of Gaucher disease include an enlarged spleen and liver, low red blood cell counts (anemia), bruising due to a low number of blood platelets, and bone pain.

This disease is seen in 1 in 50,000 to 100,000 people in the general population. Type 1 Gaucher disease is more common in people of Ashkenazi (eastern and central European) Jewish heritage than those with other backgrounds. The disorder affects in 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. Types 2 and 3 Gaucher disease and pseudo-Gaucher disease are not more common in people of Ashkenazi Jewish descent.

Mutations in the GBA gene cause Gaucher disease.

Mutations in GBA lead to extremely low levels of an enzyme called beta-glucocerebrosidase. This enzyme usually breaks down a lipid called glucocerebroside into sugar and fat. Without functional beta-glucocerebrosidase, glucocerebroside can build up in and damage the body's organs, causing the signs and symptoms of the disease.

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.

You may find the following resources about Gaucher disease helpful.

• NIH Publications - National Institutes of Health (2 links)
• MedlinePlus - Health Information (2 links)
• Genes and Disease - Genetic disorder summaries
• Educational resources - Information pages (4 links)
• Patient support - For patients and families (5 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

• Gene Reviews - Clinical summary
• Gene Tests - DNA tests ordered by healthcare professionals
• ClinicalTrials.gov - Linking patients to medical research
• PubMed - Recent literature
• OMIM - Genetic disorder catalog (4 links)

See How are genetic conditions and genes named? in the Handbook.

The Handbook provides basic information about genetics in clear language.

• What does it mean if a disorder seems to run in my family?
• What are the different ways in which a genetic condition can be inherited?
• If a genetic disorder runs in my family, what are the chances that my children will have the condition?
• Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.

• Genetics and health
• Resources for Patients and Families
• Resources for Health Professionals

anemia ; Ashkenazi Jewish ; autosomal ; autosomal recessive ; carrier ; cerebrosides ; deficiency ; enzyme ; familial ; gene ; lipid ; mutation ; recessive ; red blood cell ; sign ; symptom

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.