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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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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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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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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The National Gaucher Foundation, Inc.

In addition to raising millions of dollars to support and promote research towards the cause, treatments and a cure for Gaucher disease, the NGF's mission is to provide assistance and resources to families and individuals who are affected by the disease. To meet the ever-increasing needs of the Gaucher community, the NGF provides a wide range of financial, educational, legislative, mentor and outreach programs for families and individuals with Gaucher disease.

Last Updated: 21 Jul 2015

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General Support Organizations

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How do you compare to others with this condition?

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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

View Details
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

View Details
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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

View Details
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
The National Gaucher Foundation, Inc.

In addition to raising millions of dollars to support and promote research towards the cause, treatments and a cure for Gaucher disease, the NGF's mission is to provide assistance and resources to families and individuals who are affected by the disease. To meet the ever-increasing needs of the Gaucher community, the NGF provides a wide range of financial, educational, legislative, mentor and outreach programs for families and individuals with Gaucher disease.

http://www.gaucherdisease.org

Last Updated: 21 Jul 2015

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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 356 free, full-text research articles on human participants. First 3 results:

Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients.
 

Author(s): Bouwien E Smid, Maria J Ferraz, Marri Verhoek, Mina Mirzaian, Patrick Wisse, Herman S Overkleeft, Carla E Hollak, Johannes M Aerts

Journal:

 

We retrospectively compared biochemical responses in type 1 Gaucher disease patients to treatment with glycosphingolipid synthesis inhibitors miglustat and eliglustat and ERT.

Last Updated: 24 Mar 2016

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Patients with type 1 Gaucher disease in Spain: A cross-sectional evaluation of health status.
 

Author(s): Pilar Giraldo, Jordi Pérez-López, Ramiro Núñez, Rafael Fernández de la Puebla, Elisa Luño, Salvador Saura-Grau, Juan Carlos Bureo, Sylvia Plaza, Javier de la Serna

Journal: Blood Cells Mol. Dis.. 2016 Jan;56(1):23-30.

 

A multicentre, cross-sectional epidemiological survey was conducted to describe the health status of patients with type 1 Gaucher disease (GD1) in Spain. Patient data were collected retrospectively from clinical records. Therapeutic goals for seven clinical parameters were chosen ...

Last Updated: 25 Nov 2015

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Gaucher disease in Syrian children: common mutations identification, and clinical futures.
 

Author(s): Diana Alasmar

Journal: Ann Saudi Med. ;35(2):127-32.

 

Gaucher disease (GD) is caused by the deficiency of glucosidase beta acid (GBA). Three clinical forms of GD are available. Some mutations in the GBA gene have a high frequency in spe.cific populations. The aim of this study was to analyze the characteristics of phenotypes and genotypes ...

Last Updated: 4 Sep 2015

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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 47 free, full-text review articles on human participants. First 3 results:

Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug-drug interactions.
 

Author(s): Jeanine Utz, Chester B Whitley, Paul L M van Giersbergen, Stefan A Kolb

Journal: Mol. Genet. Metab.. 2016 Feb;117(2):172-8.

 

Clinical care for patients with rare diseases may be complicated by comorbidities. Administration of medications to treat comorbidities may elicit potentially harmful drug-drug interactions (DDIs). Genetic background may also influence DDI occurrence. We investigated the range of ...

Last Updated: 15 Feb 2016

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Gaucher Disease: Clinical, Biological and Therapeutic Aspects.
 

Author(s): Azza Dandana, Souhaira Ben Khelifa, Hinda Chahed, Abdelhédi Miled, Salima Ferchichi

Journal: Pathobiology. 2016 ;83(1):13-23.

 

We present a brief review of Gaucher disease (GD), the most common lysosomal storage disease. GD is a rare autosomal recessive disorder characterized by the defective function of the catabolic enzyme β-glucocerebrosidase (GBA), leading to an accumulation of its substrate, glucocerebroside. ...

Last Updated: 20 Feb 2016

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Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.
 

Author(s): Manisha Balwani, Thomas Andrew Burrow, Joel Charrow, Ozlem Goker-Alpan, Paige Kaplan, Priya S Kishnani, Pramod Mistry, Jeremy Ruskin, Neal Weinreb

Journal: Mol. Genet. Metab.. 2016 Feb;117(2):95-103.

 

In Gaucher disease, deficient activity of acid β-glucosidase results in accumulation of its substrates, glucosylceramide and glucosylsphingosine, within the lysosomes of cells primarily in the spleen, liver, bone marrow, and occasionally the lung. The multisystem disease is predominantly ...

Last Updated: 15 Feb 2016

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Miglustat on Gaucher Disease Type IIIB
 

Status: Recruiting

Condition Summary: Gaucher Disease

 

Last Updated: 8 Apr 2016

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Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)
 

Status: Recruiting

Condition Summary: Gaucher Disease Type 1

 

Last Updated: 20 Oct 2015

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Home Therapy With VPRIV in Gaucher's Disease
 

Status: Recruiting

Condition Summary: Gaucher Disease

 

Last Updated: 9 May 2016

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