Gaucher disease
Dernière mise à jour 3 Apr 2025
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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.
Description
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 (anaemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), bone abnormalities such as bone pain and fractures, and joint conditions such as arthritis.
Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterised 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 a very rare form of type 2 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 (or type 3c) 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).
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Cerebroside lipidosis syndrome
Gaucher splenomegaly
Gaucher syndrome
Maladie de Gaucher
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)
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Lectures complémentaires et références
- Gaucher disease; MedlinePlus, National Library of Medicine.
- Beutler E. Gaucher disease: multiple lessons from a single gene disorder. Acta Paediatr Suppl. 2006 Apr;95(451):103-9. doi: 10.1111/j.1651-2227.2006.tb02398.x.
- Chabas A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, Mate I, Sobrino JA, Gonzalez-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. doi: 10.1136/jmg.32.9.740.
- 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. doi: 10.1080/15227950500405296.
- 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. doi: 10.1034/j.1399-0004.2001.590511.x.
- 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. doi: 10.1007/s00431-003-1362-0. Epub 2003 Dec 16.
- Hughes DA, Pastores GM. Gaucher Disease. 2000 Jul 27 [updated 2023 Dec 7]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1269/
- Kurolap A, Del Toro M, Spiegel R, Gutstein A, Shafir G, Cohen IJ, Barrabes JA, Feldman HB. Gaucher disease type 3c: New patients with unique presentations and review of the literature. Mol Genet Metab. 2019 Jun;127(2):138-146. doi: 10.1016/j.ymgme.2019.05.011. Epub 2019 May 21.
- 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. doi: 10.1016/j.braindev.2005.04.005.
- 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.
- Rosenbloom BE, Weinreb NJ. Gaucher disease: a comprehensive review. Crit Rev Oncog. 2013;18(3):163-75. doi: 10.1615/critrevoncog.2013006060.
- Sidransky E. Gaucher disease: insights from a rare Mendelian disorder. Discov Med. 2012 Oct;14(77):273-81.
- Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C. The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here? Mol Genet Metab. 2022 May;136(1):4-21. doi: 10.1016/j.ymgme.2022.03.001. Epub 2022 Mar 9.
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