Gaucher disease

noun

Gau·​cher disease (ˌ)gō-ˈshā- How to pronounce Gaucher disease (audio)
variants or Gaucher's disease
: a rare hereditary disorder of lipid metabolism caused by an enzyme deficiency and characterized by enlargement of the spleen and liver, bone lesions, and sometimes neurological impairment

Note: Gaucher disease is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome.

Examples of Gaucher disease in a Sentence

Recent Examples on the Web In addition to ulcerative colitis, some examples of other health conditions that occur more commonly in the Ashkenazi Jewish population include Tay-Sachs disease, Gaucher disease, and cystic fibrosis. Jill Seladi-Schulman, SELF, 15 Feb. 2022 Those can include diseases like neurofibromatosis and Gaucher disease. Korin Miller, Health.com, 24 Sep. 2021 Parkinson’s disease, a type of Gaucher disease, several hereditary blood disorders, and alpha-1 antitrypsin deficiency. Kate Sheridan, STAT, 9 Sep. 2020 Dor Yeshorim contributed to the discovery or confirmation of the genes for Canavan disease; Gaucher disease, which attacks the spleen and liver, causing pain and fatigue; and Fanconi’s anemia, a failure of the bone marrow. Jeff Wheelwright, Discover Magazine, 20 May 2012

These examples are programmatically compiled from various online sources to illustrate current usage of the word 'Gaucher disease.' Any opinions expressed in the examples do not represent those of Merriam-Webster or its editors. Send us feedback about these examples.

Word History

Etymology

Philippe C. E. Gaucher †1918 French physician

First Known Use

1902, in the meaning defined above

Time Traveler
The first known use of Gaucher disease was in 1902

Dictionary Entries Near Gaucher disease

Cite this Entry

“Gaucher disease.” Merriam-Webster.com Dictionary, Merriam-Webster, https://www.merriam-webster.com/dictionary/Gaucher%20disease. Accessed 13 Apr. 2024.

Medical Definition

Gaucher disease

noun
Gau·​cher disease ˌgō-ˈshā- How to pronounce Gaucher disease (audio)
variants or Gaucher's disease
: a rare hereditary disorder of lipid metabolism that is caused by an enzyme deficiency of glucocerebrosidase, that is characterized by extreme enlargement of the spleen, pigmentation of the skin, and bone lesions, and that is marked by the presence of large amounts of glucocerebroside in the cells of the mononuclear phagocyte system

Note: Gaucher disease is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome.

In the U.S., Gaucher disease is most common among descendants of Eastern European Jews, but also appears in the non-Jewish population.Greg Johnson, The Los Angeles Times
Gaucher's disease is caused by a recessive mutation in the enzyme that cleaves glucose from the lipid portion of sphingolipids.Gina Kolata, Science
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