"Sometimes familiar symptoms don't add up to a familiar diagnosis."

Health Care Professionals

Genetics & Gaucher Disease

Gaucher disease is an autosomal recessive disorder caused by the presence of two mutant alleles coding for the glucocerebrosidase gene on chromosome 1. To date, more than 300 mutant alleles have been identified.

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Identifying Gaucher Disease

Many of Gaucher disease's presenting symptoms-from hepatosplenomegaly to bone pain to hematological complications-are also found with other more common diseases. It is not unusual for physicians to initially suspect other disorders.

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Resources & Support

The resources and support listed in this section are intended to help medical professionals get the information they need to provide comprehensive care for their patients with Gaucher disease.

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Hepatosplenomegaly

Gaucher disease patients may have protruding abdomens, from an enlarged liver and/or spleen, due to accumulation of Gaucher cells. The spleen can swell to greater than 15 times its normal size, while the liver can swell to 2.5 times its normal size.

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The Gaucher Registry

The Gaucher Registry is a worldwide database that tracks health-related information for people with Gaucher disease, allowing doctors and health care professionals to better understand and treat the disorder.

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