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[1] and type F[2] have been published, but they are not well characterized, and are currently classified under type B.[3]

  1. ^ Lynn R, Terry RD (December 1964). "Lipid histochemistry and electron microscopy in adult Niemann–Pick disease". The American Journal of Medicine. 37 (6): 987–94. doi:10.1016/0002-9343(64)90139-1. PMID 14246098.
  2. ^ Schneider EL, Pentchev PG, Hibbert SR, Sawitsky A, Brady RO (October 1978). "A new form of Niemann–Pick disease characterised by temperature-labile sphingomyelinase". Journal of Medical Genetics. 15 (5): 370–4. doi:10.1136/jmg.15.5.370. PMC 1013734. PMID 216805.
  3. ^ Online Mendelian Inheritance in Man (OMIM): Niemann–Pick Disease, Type B - 607616 Retrieved 2 February 2024.
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