Gaucher Disease

Common Name(s)

Gaucher Disease

Gaucher disease refers to a group of inherited conditions that affect many organs and tissues in the body. Signs and symptoms vary widely among affected individuals. There are different types of this condition: Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, and Gaucher disease type 3. Gaucher disease type 1 is the most common form of this condition. Gaucher disease is inherited in an autosomal recessive fashion and is caused by mutations in the GBA gene.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gaucher Disease" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

Last Updated: 13 May 2014

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stopcaidnow.org

Our mission is simple-Educate, Provide Awareness, and Fund Researchers who are committed to finding a cure. StopCAIDnow(501c3) is focused on providing tools to better educate Doctor’s and the community on AutoInflammatory diseases. There is a need for an understanding of these diseases so proper diagnosis can be made, and treatment can be started. This will help alleviate the inflammation process, 7 the pain that comes with it. Proper diagnosis is urgent for the prognosis of these diseases. If left untreated damage to the tissues, organs & vision(for some) will not only be irreversible but devastating

Last Updated: 5 Mar 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gaucher Disease" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

http://www.ntsad.org

Last Updated: 13 May 2014

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stopcaidnow.org

Our mission is simple-Educate, Provide Awareness, and Fund Researchers who are committed to finding a cure. StopCAIDnow(501c3) is focused on providing tools to better educate Doctor’s and the community on AutoInflammatory diseases. There is a need for an understanding of these diseases so proper diagnosis can be made, and treatment can be started. This will help alleviate the inflammation process, 7 the pain that comes with it. Proper diagnosis is urgent for the prognosis of these diseases. If left untreated damage to the tissues, organs & vision(for some) will not only be irreversible but devastating

http://www.stopcaidnow.org

Last Updated: 5 Mar 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Gaucher Disease" returned 275 free, full-text research articles on human participants. First 3 results:

Cholelithiasis in a patient with type 2 Gaucher disease.
 

Author(s): Makoto Migita, Sakae Kumasaka, Tae Matsumoto, Hanako Tajima, Takahiro Ueda, Atsuyuki Yamataka

Journal: J Nippon Med Sch. 2014 ;81(1):40-2.

 

Gaucher disease is an autosomal recessively inherited lysosomal storage disease in which a deficiency of glucocerebrosidase is associated with the accumulation of glucocerebroside in reticuloendothelial cells. Clinically, 3 types of Gaucher disease have been defined on the basis of ...

Last Updated: 11 Mar 2014

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Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones.
 

Author(s): Chunzhang Yang, Cody L Swallows, Chao Zhang, Jie Lu, Hongbin Xiao, Roscoe O Brady, Zhengping Zhuang

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Jan;111(1):249-54.

 

Gaucher disease is caused by mutations in the glucosidase, beta, acid gene that encodes glucocerebrosidase (GCase). Glucosidase, beta, acid mutations often cause protein misfolding and quantitative loss of GCase. In the present study, we found that celastrol, an herb derivative with ...

Last Updated: 8 Jan 2014

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Unfolded protein response in Gaucher disease: from human to Drosophila.
 

Author(s): Gali Maor, Sigal Rencus-Lazar, Mirella Filocamo, Hermann Steller, Daniel Segal, Mia Horowitz

Journal:

 

In Gaucher disease (GD), resulting from mutations in the GBA gene, mutant β-glucocerebrosidase (GCase) molecules are recognized as misfolded in the endoplasmic reticulum (ER). They are retrotranslocated to the cytoplasm, where they are ubiquitinated and undergo proteasomal degradation ...

Last Updated: 15 Nov 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Gaucher Disease" returned 28 free, full-text review articles on human participants. First 3 results:

Immunological cells and functions in Gaucher disease.
 

Author(s): Manoj Kumar Pandey, Gregory A Grabowski

Journal: Crit Rev Oncog. 2013 ;18(3):197-220.

 

The macrophage (MΦ) has been the focus of causality, research, and therapy of Gaucher disease, but recent evidence casts doubt its solitary role in the disease pathogenesis. The excess of glucosylceramide (GC) in such cells accounts for some of the disease manifestations. Evidence ...

Last Updated: 20 Mar 2013

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Gaucher disease and other storage disorders.
 

Author(s): Gregory A Grabowski

Journal: Hematology Am Soc Hematol Educ Program. 2012 ;2012():13-8.

 

In 1882, Philippe Gaucher described a 32-year-old woman with massive splenomegaly and unusually large cells in the spleen, which he called a "primary epithelioma of the spleen." The systemic nature and inheritance of the disease and its variants involving the viscera and CNS were ...

Last Updated: 12 Dec 2012

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Gaucher disease: insights from a rare Mendelian disorder.
 

Author(s): Ellen Sidransky

Journal: Discov Med. 2012 Oct;14(77):273-81.

 

It has become increasingly clear that "simple" recessive disorders provide unique insight into the complexities of common diseases. For years, research on Gaucher disease, a rare inherited disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase, focused on ...

Last Updated: 1 Nov 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

International Collaborative Gaucher Group (ICGG) Gaucher Registry
 

Status: Recruiting

Condition Summary: Gaucher Disease; Cerebroside Lipidosis Syndrome; Glucocerebrosidase Deficiency Disease; Glucosylceramide Beta-Glucosidase Deficiency Disease

 

Last Updated: 13 Aug 2013

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Exploration of Immunity in Gaucher Disease
 

Status: Recruiting

Condition Summary: Gaucher Disease

 

Last Updated: 25 Nov 2013

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Intra-monocyte Imiglucerase Kinetics in Gaucher Disease
 

Status: Recruiting

Condition Summary: Gaucher Disease

 

Last Updated: 24 Sep 2013

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