"Niemann-Pick Diseases" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.
| Descriptor ID |
D009542
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| MeSH Number(s) |
C10.228.140.163.100.435.825.700 C15.604.250.410.625 C16.320.565.189.435.825.700 C16.320.565.398.641.803.730 C16.320.565.595.554.825.700 C18.452.132.100.435.825.700 C18.452.584.687.803.730 C18.452.648.189.435.825.700 C18.452.648.398.641.803.730 C18.452.648.595.554.825.700
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| Concept/Terms |
|
Below are MeSH descriptors whose meaning is more general than "Niemann-Pick Diseases".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
- Sphingolipidoses [C10.228.140.163.100.435.825]
- Niemann-Pick Diseases [C10.228.140.163.100.435.825.700]
- Hemic and Lymphatic Diseases [C15]
- Lymphatic Diseases [C15.604]
- Histiocytosis [C15.604.250]
- Histiocytosis, Non-Langerhans-Cell [C15.604.250.410]
- Niemann-Pick Diseases [C15.604.250.410.625]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
- Sphingolipidoses [C16.320.565.189.435.825]
- Niemann-Pick Diseases [C16.320.565.189.435.825.700]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Lipidoses [C16.320.565.398.641]
- Sphingolipidoses [C16.320.565.398.641.803]
- Niemann-Pick Diseases [C16.320.565.398.641.803.730]
- Lysosomal Storage Diseases [C16.320.565.595]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
- Sphingolipidoses [C16.320.565.595.554.825]
- Niemann-Pick Diseases [C16.320.565.595.554.825.700]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
- Sphingolipidoses [C18.452.132.100.435.825]
- Niemann-Pick Diseases [C18.452.132.100.435.825.700]
- Lipid Metabolism Disorders [C18.452.584]
- Lipidoses [C18.452.584.687]
- Sphingolipidoses [C18.452.584.687.803]
- Niemann-Pick Diseases [C18.452.584.687.803.730]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
- Sphingolipidoses [C18.452.648.189.435.825]
- Niemann-Pick Diseases [C18.452.648.189.435.825.700]
- Lipid Metabolism, Inborn Errors [C18.452.648.398]
- Lipidoses [C18.452.648.398.641]
- Sphingolipidoses [C18.452.648.398.641.803]
- Niemann-Pick Diseases [C18.452.648.398.641.803.730]
- Lysosomal Storage Diseases [C18.452.648.595]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
- Sphingolipidoses [C18.452.648.595.554.825]
- Niemann-Pick Diseases [C18.452.648.595.554.825.700]
Below are MeSH descriptors whose meaning is more specific than "Niemann-Pick Diseases".
This graph shows the total number of publications written about "Niemann-Pick Diseases" by people in this website by year, and whether "Niemann-Pick Diseases" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 0 | 1 | 1 |
| 2000 | 1 | 0 | 1 |
| 2002 | 1 | 0 | 1 |
| 2004 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2024 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Niemann-Pick Diseases" by people in Profiles.
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Pulmonary Involvement of Niemann-Pick Disease. Radiology. 2024 02; 310(2):e232633.
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Activation mobilizes the cholesterol in the late endosomes-lysosomes of Niemann Pick type C cells. PLoS One. 2012; 7(1):e30051.
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Cutting edge: impaired glycosphingolipid trafficking and NKT cell development in mice lacking Niemann-Pick type C1 protein. J Immunol. 2006 Jul 01; 177(1):26-30.
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Neuronal localization and association of Niemann Pick C2 protein (HE1/NPC2) with the postsynaptic density. Neuroscience. 2004; 128(3):561-70.
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Dynamics of lysosomal cholesterol in Niemann-Pick type C and normal human fibroblasts. J Lipid Res. 2002 Feb; 43(2):198-204.
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Cholesterol movement in Niemann-Pick type C cells and in cells treated with amphiphiles. J Biol Chem. 2000 Jun 09; 275(23):17468-75.
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Four cholesterol-sensing proteins. Curr Opin Struct Biol. 1998 Aug; 8(4):435-9.