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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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 related to "Niemann-Pick Disease, Type C".

Below are MeSH descriptors whose meaning is more specific than "Niemann-Pick Disease, Type C".

publications

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