MedlinePlus Health Topics

Last uploaded: August 27, 2019
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 broken bones, and, sometimes, lung and kidney 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 >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:

  • Type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. It does not affect the brain. It can occur at any age.
  • Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2.
  • In type 3, there may be liver and spleen enlargement. The brain is gradually affected. It usually starts in childhood or adolescence.

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

Inverse of SIB

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Mapped from

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0017205

Mapped to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0017205

MP HEALTH TOPIC URL

https://medlineplus.gov/gaucherdisease.html

MP OTHER LANGUAGE URL

Spanish https://medlineplus.gov/spanish/gaucherdisease.html

MP PRIMARY INSTITUTE URL

National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/

notation

C0017205

prefLabel

Gaucher Disease

Related to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0025517

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.

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456603

http://purl.bioontology.org/ontology/MEDLINEPLUS/C2362507

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