Niemann-Pick disease is a metabolic disorder associated with the abnormal accumulation of lipids in organs such as the spleen, liver, lungs, and brain. Symptoms can include loss of motor coordination, spasticity, brain damage, and enlarged organs (dependent on the type). Types A and B are caused by mutations in the sphingomyelinase/SMPD1 gene, while type C is caused by mutations in the NPC1 and NPC2 genes. Fly stocks in the Bloomington collection that can be used to study Niemann-Pick disease are listed here.
General Information links for Niemann-Pick disease:
- OMIM links for Niemann-Pick types are included in the table below
- NIH's Genetics Home Reference - includes links for GHR pages on SMPD1, NPC1, and NPC2