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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type C
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type C
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type C
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type C
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type C
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type C
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type C
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type C
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type C
... > Hemic and Lymphatic Diseases > Lymphatic Diseases > Histiocytosis > Histiocytosis, Non-Langerhans-Cell > Niemann-Pick Diseases > Niemann-Pick Disease, Type C

Preferred term

Niemann-Pick Disease, Type C  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia
  • Niemann Pick Disease, Chronic Neuronopathic Form
  • Niemann-Pick Disease, Chronic Neuronopathic Form
  • Niemann Pick Disease Type C
  • Niemann-Pick Disease Type C
  • Niemann Pick Disease with Cholesterol Esterification Block
  • Niemann-Pick Disease with Cholesterol Esterification Block
  • Niemann Pick Disease without Sphingomyelinase Deficiency
  • Niemann-Pick Disease without Sphingomyelinase Deficiency
  • Niemann Pick's Disease Type C
  • Niemann-Pick's Disease Type C
  • Niemann Pick Type C Disease
  • Niemann-Pick Type C Disease

Scope note

  • 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 the NPC1 gene, which encodes a protein that mediates 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.

History note

  • 2007; use NIEMANN-PICK DISEASES 2000-2006

In other languages

URI

http://www.yso.fi/onto/mesh/D052556

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