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).
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Are there other names for Niemann-Pick disease type C?
Other names for Niemann-Pick disease type C (including types C1 and C2) are listed:
- Lipid histocytosis
- Neuronal cholesterol lipidosis
- Neuronal lipidosis
- Neurovisceral storage disease with vertical supranuclear ophthalmoplegia
- Niemann-Pick disease, chronic neuronopathic form
- Niemann-Pick disease, subacute juvenile form
- Niemann-Pick disease without sphingomyelinase deficiency
- Niemann-Pick disease with cholesterol esterification bloc
- Juvenile Niemann-Pick Disease
What is the usual abbreviation for Niemann-Pick disease type C?
Niemann-Pick disease type C is abbreviated as NPC. Type C1 is abbreviated as NPC1 and type C2 as NPC2.
How common is Niemann-Pick disease type C?
Niemann-Pick disease type C occurs in about 1 in 90,000 to 1 in 150,000 people. Most of these cases are for type C1, as only about 20 cases of type C2 have been reported.