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Xu, C. Gaucher Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/3974 (accessed on 27 July 2024).
Xu C. Gaucher Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/3974. Accessed July 27, 2024.
Xu, Camila. "Gaucher Disease" Encyclopedia, https://encyclopedia.pub/entry/3974 (accessed July 27, 2024).
Xu, C. (2020, December 23). Gaucher Disease. In Encyclopedia. https://encyclopedia.pub/entry/3974
Xu, Camila. "Gaucher Disease." Encyclopedia. Web. 23 December, 2020.
Gaucher Disease
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/gaucher-disease

Gaucher disease is an inherited disorder that affects many of the body's organs and tissues

genetic conditions

1. Introduction

The signs and symptoms of Gaucher disease 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 it tends to worsen 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).

2. Frequency

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; it occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. This form of the 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.

3. Causes

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.

3.1. The gene associated with Gaucher disease

  • GBA

4. Inheritance

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.

5. Other Names for This Condition

  • cerebroside lipidosis syndrome

  • Gaucher splenomegaly

  • Gaucher syndrome

  • Gaucher's disease

  • Gauchers disease

  • GD

  • glucocerebrosidase deficiency

  • glucocerebrosidosis

  • glucosyl cerebroside lipidosis

  • glucosylceramidase deficiency

  • glucosylceramide beta-glucosidase deficiency

  • glucosylceramide lipidosis

  • kerasin histiocytosis

  • kerasin lipoidosis

  • kerasin thesaurismosis

  • lipoid histiocytosis (kerasin type)

References

  1. Beutler E. Gaucher disease: multiple lessons from a single gene disorder. ActaPaediatr Suppl. 2006 Apr;95(451):103-9. Review.
  2. 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'sdisease: cardiovascular calcifications in three sibs homozygous for the D409Hmutation. J Med Genet. 1995 Sep;32(9):740-2.
  3. Eblan MJ, Goker-Alpan O, Sidransky E. Perinatal lethal Gaucher disease: adistinct phenotype along the neuronopathic continuum. Fetal Pediatr Pathol. 2005 Jul-Oct;24(4-5):205-22. Review.
  4. George R, McMahon J, Lytle B, Clark B, Lichtin A. Severe valvular and aorticarch calcification in a patient with Gaucher's disease homozygous for the D409Hmutation. Clin Genet. 2001 May;59(5):360-3.
  5. 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 JPediatr. 2004 Feb;163(2):58-66.
  6. Mignot C, Doummar D, Maire I, De Villemeur TB; French Type 2 Gaucher DiseaseStudy Group. Type 2 Gaucher disease: 15 new cases and review of the literature.Brain Dev. 2006 Jan;28(1):39-48. Review.
  7. Mignot C, Gelot A, De Villemeur TB. Gaucher disease. Handb Clin Neurol.2013;113:1709-15. doi: 10.1016/B978-0-444-59565-2.00040-X. Review.
  8. Pastores GM, Hughes DA. Gaucher Disease. 2000 Jul 27 [updated 2018 Jun 21].In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1269/
  9. Rosenbloom BE, Weinreb NJ. Gaucher disease: a comprehensive review. Crit RevOncog. 2013;18(3):163-75. Review.
  10. Sidransky E. Gaucher disease: insights from a rare Mendelian disorder. Discov Med. 2012 Oct;14(77):273-81. Review.
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Subjects: Genetics & Heredity
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Camila Xu
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Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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