Niemann-pick type c


What is Niemann-Pick disease type C?

Niemann-Pick disease type C (including types C1 and C2) is a genetic condition that affects many of the organs in the body. It is caused by a buildup of fats (especially cholesterol) inside the cells in the body, which then cause damage to the body's organs. Specifically, the cell is not able to move fats around to the proper places, and so the cell doesn't work properly. Niemann-Pick disease type C1 is caused by changes ("mutations") in the NPC1 gene. Niemann-Pick disease type C2 is caused by changes ("mutations") in the NPC2 gene. The main symptoms of this condition include muscle and movement problems, liver disease, lung disease, and brain issues (which can lead to a decrease in intellectual abilities, seizures, and/or psychiatric illness).

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • • DATE UPDATED: 2016-06-12


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