Niemann-Pick type B disease
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Web Resources for Niemann-Pick type B disease
ICD 10 code: E75.2
Genetic Databases
Relevant Clinical Literature
UK Guidance
Other Wikis
Medpedia on Niemann-Pick type B disease (Less technical, good quality control)
Wikipedia on Niemann-Pick type B disease (Less technical, ? quality control)
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.
