Niemann-Pick type B disease
A progressive condition due to mutations of the sphingomyelin phosphodiesterase-1 (SMPD1) gene at 11p15.4-p15.1. Distinguished on clinical grounds from the other forms Niemann-Pick disease which have neurological manifestations. Manifest by (can be found incidentally):
Survival can be into adulthood and there is a range of overlap with Niemann-Pick type A disease phenotype with variants often called type E and F.