Niemann-Pick disease
MONDO:0001982A 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.
Follow this condition — get notified about new trialsSub-types
Niemann-Pick disease type C
(12)
Acid sphingomyelinase deficiency
(7)
Niemann-Pick disease type A
(4)
Niemann-Pick disease, type C1
(2)
Niemann-Pick disease type B
(1)
Niemann-Pick disease, type C2
(1)
Chronic neurovisceral acid sphingomyelinase deficiency
(0)
Niemann-Pick disease type C, adult neurologic onset
(0)
Niemann-Pick disease type C, juvenile neurologic onset
(0)
Niemann-Pick disease type C, late infantile neurologic onset
(0)
Niemann-Pick disease type C, severe early infantile neurologic onset
(0)
Niemann-Pick disease type C, severe perinatal form
(0)
Niemann-Pick disease type E
(0)