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Genetics Home Reference: your guide to understanding genetic conditions
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Gaucher disease

Reviewed January 2008

What is Gaucher disease?

Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.

Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.

Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but tends to progress more slowly than type 2.

The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.

Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).

How common is Gaucher disease?

Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder, and occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. This condition affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher disease are uncommon, and do not occur more frequently in people of Ashkenazi Jewish descent.

What genes are related to Gaucher disease?

Mutations in the GBA gene cause Gaucher disease.

The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Mutations in the GBA gene greatly reduce or eliminate the activity of beta-glucocerebrosidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of Gaucher disease.

Related Gene(s)

Changes in this gene are associated with Gaucher disease.

  • GBA

How do people inherit Gaucher disease?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of Gaucher disease?

These resources address the diagnosis or management of Gaucher disease and may include treatment providers.

  • Baby's First Test (http://www.babysfirsttest.org/newborn-screening/conditions/gaucher-disease)
  • Gene Review: Gaucher Disease (http://www.ncbi.nlm.nih.gov/books/NBK1269/)
  • Genetic Testing Registry: Acute neuronopathic Gaucher's disease (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0268250)
  • Genetic Testing Registry: Gaucher's disease, type 1 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1961835)
  • Genetic Testing Registry: Gaucher disease (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0017205)
  • Genetic Testing Registry: Gaucher disease type 3A (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1856491)
  • Genetic Testing Registry: Gaucher disease type 3B (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1856492)
  • Genetic Testing Registry: Gaucher disease type 3C (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1856476)
  • Genetic Testing Registry: Subacute neuronopathic Gaucher's disease (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0268251)
  • MedlinePlus Encyclopedia: Gaucher Disease (http://www.nlm.nih.gov/medlineplus/ency/article/000564.htm)

You might also find information on the diagnosis or management of Gaucher disease in Educational resources (http://www.ghr.nlm.nih.gov/condition/gaucher-disease/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/gaucher-disease/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Gaucher disease?

You may find the following resources about Gaucher disease helpful. These materials are written for the general public.

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

What other names do people use for Gaucher disease?

  • Cerebroside Lipidosis Syndrome
  • Gauchers Disease
  • Gaucher's disease
  • Gaucher splenomegaly
  • Gaucher syndrome
  • GD
  • Glucocerebrosidase deficiency
  • Glucocerebrosidosis
  • Glucosylceramidase deficiency
  • Glucosylceramide beta-glucosidase deficiency
  • Glucosylceramide lipidosis
  • Glucosyl cerebroside lipidosis
  • Kerasin histiocytosis
  • Kerasin lipoidosis
  • Kerasin thesaurismosis
  • Lipoid histiocytosis (kerasin type)

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Gaucher disease?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Gaucher disease?

acute ; anemia ; arthritis ; Ashkenazi Jewish ; autosomal ; autosomal recessive ; blood platelets ; cardiovascular ; cell ; central nervous system ; chronic ; deficiency ; enzyme ; gene ; glucose ; hepatosplenomegaly ; hydrops fetalis ; ichthyosis ; juvenile ; molecule ; nervous system ; neurological ; platelets ; population ; recessive ; splenomegaly ; syndrome ; thrombocytopenia ; toxic

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Beutler E. Gaucher disease: multiple lessons from a single gene disorder. Acta Paediatr Suppl. 2006 Apr;95(451):103-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16720474?dopt=Abstract)
  • Chabás A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, Mate I, Sobrino JA, Gonzàlez-Duarte R, Vilageliu L. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. J Med Genet. 1995 Sep;32(9):740-2. (http://www.ncbi.nlm.nih.gov/pubmed/8544197?dopt=Abstract)
  • Eblan MJ, Goker-Alpan O, Sidransky E. Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum. Fetal Pediatr Pathol. 2005 Jul-Oct;24(4-5):205-22. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16396828?dopt=Abstract)
  • Enderlin C, Vogel R, Conaway P. Gaucher disease. Am J Nurs. 2003 Dec;103(12):50-60; quiz 61. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14702566?dopt=Abstract)
  • Gene Review: Gaucher Disease (http://www.ncbi.nlm.nih.gov/books/NBK1269/)
  • George R, McMahon J, Lytle B, Clark B, Lichtin A. Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation. Clin Genet. 2001 May;59(5):360-3. (http://www.ncbi.nlm.nih.gov/pubmed/11359469?dopt=Abstract)
  • Germain DP. Gaucher's disease: a paradigm for interventional genetics. Clin Genet. 2004 Feb;65(2):77-86. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14984463?dopt=Abstract)
  • Grabowski GA, Andria G, Baldellou A, Campbell PE, Charrow J, Cohen IJ, Harris CM, Kaplan P, Mengel E, Pocovi M, Vellodi A. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr. 2004 Feb;163(2):58-66. Epub 2003 Dec 16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14677061?dopt=Abstract)
  • Grabowski GA. Recent clinical progress in Gaucher disease. Curr Opin Pediatr. 2005 Aug;17(4):519-24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16012266?dopt=Abstract)
  • Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management. Br J Haematol. 2005 Apr;129(2):178-88. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15813845?dopt=Abstract)
  • Mignot C, Doummar D, Maire I, De Villemeur TB; French Type 2 Gaucher Disease Study Group. Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev. 2006 Jan;28(1):39-48. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16485335?dopt=Abstract)
  • Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol Genet Metab. 2004 Sep-Oct;83(1-2):6-15. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15464415?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2008
Published: April 7, 2014