Niemann-Pick Disease, Type C
"Niemann-Pick Disease, Type C" 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.
An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.
| Descriptor ID |
D052556
|
| MeSH Number(s) |
C10.228.140.163.100.435.825.700.875 C15.604.250.410.625.875 C16.320.565.189.435.825.700.875 C16.320.565.398.641.803.730.875 C16.320.565.595.554.825.700.875 C18.452.132.100.435.825.700.875 C18.452.584.687.803.730.875 C18.452.648.189.435.825.700.875 C18.452.648.398.641.803.730.875 C18.452.648.595.554.825.700.875
|
| Concept/Terms |
Niemann-Pick Disease, Type C- Niemann-Pick Disease, Type C
- Niemann Pick Disease, Type C
- Niemann-Pick's Disease Type C
- Niemann Pick's Disease Type C
- Niemann-Pick Disease without Sphingomyelinase Deficiency
- Niemann Pick Disease without Sphingomyelinase Deficiency
- Niemann-Pick Disease, Chronic Neuronopathic Form
- Niemann Pick Disease, Chronic Neuronopathic Form
- Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia
- Niemann-Pick Disease with Cholesterol Esterification Block
- Niemann Pick Disease with Cholesterol Esterification Block
Niemann-Pick Disease, Type C1- Niemann-Pick Disease, Type C1
- Niemann-Pick disease, Subacute Juvenile Form
- Niemann Pick disease, Subacute Juvenile Form
Niemann-Pick Disease, Type D- Niemann-Pick Disease, Type D
- Niemann Pick Disease, Type D
- Nova Scotia Niemann-Pick Disease (Type D)
- Nova Scotia Niemann Pick Disease (Type D)
- Niemann-Pick's Disease Type D
- Niemann Pick's Disease Type D
- Nova Scotia (Type D) Form of Niemann-Pick Disease
- Niemann-Pick Disease Type D
- Niemann Pick Disease Type D
- Niemann-Pick Disease, Nova Scotian
- Niemann Pick Disease, Nova Scotian
|
Below are MeSH descriptors whose meaning is more general than "Niemann-Pick Disease, Type C".
- 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]
- Niemann-Pick Disease, Type C [C10.228.140.163.100.435.825.700.875]
- 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]
- Niemann-Pick Disease, Type C [C15.604.250.410.625.875]
- 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]
- Niemann-Pick Disease, Type C [C16.320.565.189.435.825.700.875]
- 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]
- Niemann-Pick Disease, Type C [C16.320.565.398.641.803.730.875]
- 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]
- Niemann-Pick Disease, Type C [C16.320.565.595.554.825.700.875]
- 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]
- Niemann-Pick Disease, Type C [C18.452.132.100.435.825.700.875]
- 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]
- Niemann-Pick Disease, Type C [C18.452.584.687.803.730.875]
- 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]
- Niemann-Pick Disease, Type C [C18.452.648.189.435.825.700.875]
- 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]
- Niemann-Pick Disease, Type C [C18.452.648.398.641.803.730.875]
- 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]
- Niemann-Pick Disease, Type C [C18.452.648.595.554.825.700.875]
Below are MeSH descriptors whose meaning is more specific than "Niemann-Pick Disease, Type C".
This graph shows the total number of publications written about "Niemann-Pick Disease, Type C" by people in this website by year, and whether "Niemann-Pick Disease, Type C" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2011 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
| 2023 | 1 | 0 | 1 |
| 2024 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Niemann-Pick Disease, Type C" by people in Profiles.
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Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease. Int J Mol Sci. 2024 Nov 13; 25(22).
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Characterization of central manifestations in patients with Niemann-Pick disease type C. Genet Med. 2024 03; 26(3):101053.
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Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study. Genes (Basel). 2022 05 29; 13(6).
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Miglustat therapy in a case of early-infantile Niemann-Pick type C. Brain Dev. 2017 Nov; 39(10):886-890.
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Normalization of Hepatic Homeostasis in the Npc1nmf164 Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat. J Biol Chem. 2017 03 17; 292(11):4395-4410.
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Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C. PLoS One. 2011; 6(10):e23666.