Niemann-Pick disease

rare

A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.

Identifiers: MONDO:0001982
Part of: Non-Langerhans cell histiocytosis Sphingolipidosis
Also known as: lipoid histiocytosis (classical phosphatide) · Niemann-Pick disease with cholesterol esterification block · Niemann-Pick disease, subacute juvenile form · sphingomyelin/cholesterol lipidosis

Subtypes

All diseases Rare only

Disease Rare Not rare Subtypes

Niemann-Pick disease type C MONDO:0018982 7
Acid sphingomyelinase deficiency MONDO:0100464 2
Niemann-Pick disease type E MONDO:0020384
Chronic neurovisceral acid sphingomyelinase deficiency MONDO:0850058

Projects

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