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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
... > 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 > Lipid Metabolism, Inborn Errors > Lipidoses > 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
... > 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
... > 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 > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > 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
... > Hemic and Lymphatic Diseases > Lymphatic Diseases > Histiocytosis > Histiocytosis, Non-Langerhans-Cell > Niemann-Pick Diseases > Niemann-Pick Disease, Type C

Terme préférentiel

Niemann-Pick Disease, Type C  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Synonyme(s)

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

Qualificatif(s) autorisé(s)

Traductions

  • Maladie de Niemann-Pick de type C

    français

  • Forme neuronopathique chronique de la maladie de Niemann-Pick
  • Lipidose lysosomale avec ophtalmoplégie supranucléaire de la verticalité
  • Maladie de Niemann-Pick type C

URI

http://data.loterre.fr/ark:/67375/JVR-FDRH3FWM-0

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RDF/XML TURTLE JSON-LD Date de création 05/07/2006, dernière modification le 01/07/2021