Niemann-pick types a/b
Overview
What is Niemann-Pick disease (SMPD1-associated)?
Niemann-Pick disease (SMPD1-associated) is a genetic condition that affects many of the organs in the body. It is caused by a buildup of a fat called sphingomyelin inside the cells in the body, which causes damage to the body's organs. Niemann-Pick disease (SMPD1-associated) is divided into 2 types: type A and Type B. Both type A and Type B are caused by changes/mutations in the SMPD1 gene, but they are different because they have different severity symptoms. The main symptoms of this condition include enlargement of the liver and spleen, lung problems, and decreases in intellectual abilities. Type A disease is more common in people with Ashkenazi Jewish ancestry.
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Are there other names for Niemann-Pick disease (SMPD1-associated)?
What is the usual abbreviation for Niemann-Pick disease (SMPD1-associated)?
How common is Niemann-Pick disease (SMPD1-associated)?
Are there other names for Niemann-Pick disease (SMPD1-associated)?
Other names for Niemann-Pick disease (SMPD1-associated) include:
- Sphingomyelinase deficiency
- Acid spingomyelinase deficiency
- Sphingmyelin lipidosis
- Neuronal lipidosis
- Lipis histiocystosis
Niemann-Pick disease type A is also referred to as the neuronopathic type.
Niemann-Pick disease tybe B is also referred to as the non-neuronopathic type.
What is the usual abbreviation for Niemann-Pick disease (SMPD1-associated)?
- Niemann-Pick Disease is frequently abbreviated to NPD.
- Niemann-Pick Disease type A can be abbreviated to NPD-A.
- Niemann-Pick Disease type B can be abbreviated to NPD-B.
How common is Niemann-Pick disease (SMPD1-associated)?
About 1 in 250,000 people have Niemann-Pick Disease (SMPD1-associated). However, type A is more common in people with Ashkenazi Jewish ancestry. About 1 in 40,000 people with Ashkenazi Jewish ancestry has type A.
