Gaucher disease type 1

Overview

Type of disease: Rare conditions

Gaucher disease type 1, also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected, is the most common form of Gaucher disease. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood.  The condition effects various body parts, primarily the liver, spleen, lungs, bone, and blood cells. Gaucher disease is caused by mutations in the GBA gene and is inherited in an autosomal recessive pattern. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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