loading...| Preferred Name |
Gaucher Disease |
| Definitions |
<p>Gaucher disease is a rare, inherited disorder. It is a type of <a href="https://medlineplus.gov/lipidmetabolismdisorders.html">lipid metabolism disorder</a>. If you have it, you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly.</p> <p>There are three types:</p> <ul> <li>Type 1, the most common form, causes liver and spleen enlargement, bone pain and <a href="https://medlineplus.gov/fractures.html">fractures</a> (broken bones), and, sometimes, <a href="https://medlineplus.gov/lungdiseases.html">lung</a> and <a href="https://medlineplus.gov/kidneydiseases.html">kidney</a> problems. It does not affect the brain. It can occur at any age.</li> <li>Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2.</li> <li>In type 3, there may be liver and spleen enlargement. The brain is gradually affected. It usually starts in childhood or adolescence.</li> </ul> <p>Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3.</p> <p class="">NIH: National Institute of Neurological Disorders and Stroke</p> |
| ID |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0017205 |
| cui |
C0017205 |
| Date created |
08/16/2001 |
| definition |
Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have it, you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly. There are three types:
Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3. NIH: National Institute of Neurological Disorders and Stroke |
| Mapped from | |
| Mapped to | |
| MP OTHER LANGUAGE URL | |
| MP PRIMARY INSTITUTE URL |
National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/ |
| notation |
C0017205 |
| prefLabel |
Gaucher Disease |
| Related to | |
| Scope Statement |
Gaucher disease is a rare, inherited disorder in which you do not have enough of an enzyme called glucocerebrosidase. Learn about the three types.https://medlineplus.gov/gaucherdisease.html |
| tui |
T047 |
| subClassOf |