SMPD1-associated Niemann–Pick disease

Niemann–Pick disease, SMPD1-associated
SpecialtyMedical genetics

SMPD1-associated Niemann–Pick disease refers to two different types of Niemann–Pick disease, type A (NPA) and type B (NPB), which are associated with the SMPD1 gene.

There are approximately 1,200 cases of NPA and NPB worldwide with the majority of cases being Type B or an intermediate form.

Descriptions of type E and type F have been published, but they are not well characterized, and are currently classified under type B.

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