Gaucher disease cardiovascular type

Common Name(s)

Gaucher disease cardiovascular type

Gaucher disease is an inherited condition that affects many different systems of the body. It results from a mutation or error in a person’s DNA or genes.There are five forms of Gaucher disease, but Gaucher disease cardiovascular type (sometimes called Gaucher-like disease) is the most rare. Gaucher disease is considered a lysosomal storage disorder because people affected by Gaucher disease have lysosomes (the recycling center of each cell) that cannot break down certain types of fats. This causes undigested fat molecules and other harmful substances to build up in cells throughout the body, resulting in a variety of symptoms. Gaucher disease cardiovascular type affects the heart, causing bone pain, easily broken bones, and eye abnormalities. This disorder can be treated with enzyme replacement therapy to help improve organ function, and in some cases joint replacement surgery to improve movement and lessen bone pain. If detected early, individuals with Gaucher disease cardiovascular type can lead healthier lives. This condition is autosomal recessive which means an individual must have two copies of the changed gene that causes the condition. A person with one changed gene would be a carrier of the condition but will not have any symptoms. If both parents are carriers, their children have a one in four chance of having the disease.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gaucher disease cardiovascular type" for support, advocacy or research.

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 cardiovascular type" for support, advocacy or research.

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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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 cardiovascular type" returned 0 free, full-text research articles on human participants.

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 cardiovascular type" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Investigating Lysosomal Storage Diseases in Minority Groups
 

Status: Recruiting

Condition Summary: Lysosomal Storage Disorders; Gaucher Disease; Fabry Disease; Pompe Disease; Niemann-Pick Disease

 

Last Updated: 3 Apr 2017

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