follow Dictionary.com

Your favorite word could be our Word of the Day!

Gaucher's disease

[goh-sheyz] /goʊˈʃeɪz/
noun, Pathology
1.
a rare inherited disorder of fat metabolism that causes spleen and liver enlargement, abnormal fragility and pain of the bones, and progressive neurologic disturbances, leading to early death.
Origin
after Philippe C. Ernest Gaucher (1854-1918), French physician, who described it
Dictionary.com Unabridged
Based on the Random House Dictionary, © Random House, Inc. 2014.
Cite This Source
gauchers-disease in Medicine

Gaucher's disease n.
A rare familial disorder of fat metabolism due to a glucocerebrosidase deficiency and characterized by enlargement of the liver and spleen, lymphadenopathy, and bone destruction. Also called cerebroside lipidosis, cerebrosidosis.

The American Heritage® Stedman's Medical Dictionary
Copyright © 2002, 2001, 1995 by Houghton Mifflin Company. Published by Houghton Mifflin Company.
Cite This Source
Encyclopedia Article for gauchers-disease

Gaucher's disease

rare inherited metabolic disorder characterized by anemia, mental and neurologic impairment, yellowish pigmentation of the skin, enlargement of the spleen, and bone deterioration resulting in pathological fractures. Gaucher disease was initially described in 1882 by French physician Philippe Charles Ernest Gaucher. Gaucher disease is inherited as an autosomal recessive trait and is caused by one or more mutations in a gene called acid beta-glucosidase (GBA). These mutations result in defects in the synthesis of an enzyme called glucocerebrosidase, leading to the accumulation of lipids called glucocerebrosides in Gaucher cells. Gaucher cells are large, wrinkled-appearing cells that store glycolipids and are usually found in the bone marrow and the spleen.

Learn more about Gaucher's disease with a free trial on Britannica.com
Encyclopedia Britannica, 2008. Encyclopedia Britannica Online.
Cite This Source

Word of the Day

Difficulty index for Gaucher's disease

Few English speakers likely know this word

Word Value for gauchers

0
0
Scrabble Words With Friends

Quotes with gauchers-disease

Nearby words for gauchers-disease