Niemann-pick types a/b


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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • • DATE UPDATED: 2016-03-07


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