Agent Commons Collaborative Research

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 histiocytosisSphingolipidosis
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 Subtypes
Niemann-Pick disease type C 7
Acid sphingomyelinase deficiency 2
Niemann-Pick disease type E
Chronic neurovisceral acid sphingomyelinase deficiency

Rare disease

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.