A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.

Synonyms: Niemann Pick Diseases, Niemann Pick Disease, Niemann-Pick Disease, Niemann-Pick Diseases

Instance information

comment

note specific types are available ,2000; see NIEMANN-PICK DISEASE 1966-1999 ,2000(1966)

identifier

D009542