Niemann-Pick disease

MONDO:0001982

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.

Also known as: Niemann-Pick disease with cholesterol esterification block, Niemann-Pick disease, subacute juvenile form, lipoid histiocytosis (classical phosphatide), sphingomyelin/cholesterol lipidosis, type A Niemann-Pick disease

29 clinical trials for this condition and its sub-types, 10 tagged with Niemann-Pick disease itself.

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Where it sits in the disease tree

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Part of

↑ Sphingolipidosis (166) ↑ Non-Langerhans cell histiocytosis (39)

Sub-types of Niemann-Pick disease

Niemann-Pick disease type C 12 trials · 13 incl. sub-types
7 sub-types
- Niemann-Pick disease, type C1 2 trials
- Niemann-Pick disease, type C2 1 trial
- Niemann-Pick disease type C, adult neurologic onset 0 trials
- Niemann-Pick disease type C, juvenile neurologic onset 0 trials
- Niemann-Pick disease type C, late infantile neurologic onset 0 trials
- Niemann-Pick disease type C, severe early infantile neurologic onset 0 trials
- Niemann-Pick disease type C, severe perinatal form 0 trials
Acid sphingomyelinase deficiency 7 trials · 10 incl. sub-types
2 sub-types
- Niemann-Pick disease type A 4 trials
- Niemann-Pick disease type B 1 trial
Niemann-Pick disease type E 0 trials
Chronic neurovisceral acid sphingomyelinase deficiency 0 trials

Including sub-types (29) Tagged with Niemann-Pick disease (10)

Trials to join now! 5 Not yet finished but already full! 2 Completed 3

Niemann-Pick disease

Where it sits in the disease tree

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