Lysosomal lipid storage disorder
MONDO:0019245An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.
Also known as: inborn error of lipid storage, lipid storage disease, lipoid storage disease, lipoid storage disorder, rare inborn error of lipid storage, lipidoses, lipidosis, lipoidoses
192 clinical trials for this condition and its sub-types, 2 tagged with Lysosomal lipid storage disorder itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Lysosomal lipid storage disorder
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Sphingolipidosis 6 trials · 166 incl. sub-types
11 sub-types
- Fabry disease 64 trials
- Gaucher disease 46 trials Sub-types →
- Gangliosidosis 3 trials · 24 incl. sub-types Sub-types →
- Niemann-Pick disease 10 trials · 22 incl. sub-types Sub-types →
- Metachromatic leukodystrophy 20 trials Sub-types →
- Krabbe disease 15 trials Sub-types →
- Mucosulfatidosis 4 trials
- ASAH1-related sphingolipidosis 0 trials · 1 incl. sub-types Sub-types →
- PSAP-related sphingolipidosis 0 trials · 1 incl. sub-types Sub-types →
- Autosomal recessive cerebellar ataxia with late-onset spasticity 0 trials
- Sea-blue histiocyte syndrome 0 trials
-
Cerebral lipidosis with dementia 0 trials · 38 incl. sub-types
8 sub-types
- Sandhoff disease 13 trials Sub-types →
- Tay-Sachs disease 13 trials Sub-types →
- Gaucher disease type I 12 trials
- Cerebrotendinous xanthomatosis 6 trials
- Juvenile neuronal ceroid lipofuscinosis 6 trials Sub-types →
- Adult Krabbe disease 0 trials
- Adult neuronal ceroid lipofuscinosis 0 trials Sub-types →
- Infantile neuronal ceroid lipofuscinosis 0 trials Sub-types →
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Neuronal ceroid lipofuscinosis 6 trials · 23 incl. sub-types
14 sub-types
- Neuronal ceroid lipofuscinosis 3 12 trials Sub-types →
- Neuronal ceroid lipofuscinosis 2 8 trials Sub-types →
- Juvenile neuronal ceroid lipofuscinosis 6 trials Sub-types →
- Ceroid lipofuscinosis, neuronal, 6A 4 trials Sub-types →
- Neuronal ceroid lipofuscinosis 7 2 trials
- Neuronal ceroid lipofuscinosis 8 1 trial · 2 incl. sub-types Sub-types →
- Neuronal ceroid lipofuscinosis 1 1 trial Sub-types →
- Neuronal ceroid lipofuscinosis 10 1 trial Sub-types →
- Neuronal ceroid lipofuscinosis 5 1 trial Sub-types →
- Adult neuronal ceroid lipofuscinosis 0 trials Sub-types →
- Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 0 trials
- Congenital neuronal ceroid lipofuscinosis 0 trials
- Infantile neuronal ceroid lipofuscinosis 0 trials Sub-types →
- Progressive myoclonic epilepsy type 3 0 trials
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Xanthomatosis 2 trials · 8 incl. sub-types
1 sub-type
- Cerebrotendinous xanthomatosis 6 trials
-
Lysosomal acid lipase deficiency 4 trials · 6 incl. sub-types
2 sub-types
- Wolman disease 6 trials
- Cholesteryl ester storage disease 1 trial
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Neutral lipid storage disease 1 trial · 2 incl. sub-types
3 sub-types
- Dorfman-Chanarin disease 1 trial
- Triglyceride deposit cardiomyovasculopathy 1 trial Sub-types →
- Neutral lipid storage myopathy 0 trials
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Triglyceride storage disease 0 trials
2 sub-types
- Triglyceride storage disease, type 1 0 trials
- Triglyceride storage disease, type 2 0 trials
Most studied deeper sub-types
GM2 gangliosidosis
(14)
Gaucher disease type III
(12)
GM1 gangliosidosis
(12)
Niemann-Pick disease type C
(12)
Acid sphingomyelinase deficiency
(7)
Gaucher disease type II
(5)
Niemann-Pick disease type A
(4)
GM1 gangliosidosis type 1
(3)
GM1 gangliosidosis type 2
(3)
Tay-Sachs disease, B variant, adult form
(3)
Infantile Krabbe disease
(2)
Metachromatic leukodystrophy, juvenile form
(2)
Metachromatic leukodystrophy, late infantile form
(2)
Niemann-Pick disease, type C1
(2)
Farber lipogranulomatosis
(1)
Gaucher disease due to saposin C deficiency
(1)
Late infantile neuronal ceroid lipofuscinosis 2
(1)
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
(1)
Niemann-Pick disease type B
(1)
Niemann-Pick disease, type C2
(1)