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Concept information

... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipidoses > Neuronal Ceroid-Lipofuscinoses
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Neuronal Ceroid-Lipofuscinoses
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Neuronal Ceroid-Lipofuscinoses
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Neuronal Ceroid-Lipofuscinoses
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Neuronal Ceroid-Lipofuscinoses

Terme préférentiel

Neuronal Ceroid-Lipofuscinoses  

Type

  • mesh:Descriptor

Définition

  • A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure. This type is caused by mutation in the CLN2 gene encoding tripeptidyl-peptidase I, a lysosomal serine protease. This type is caused by mutation in the CLN3 gene encoding a lysosomal integral membrane protein (Battenin). This type is caused by mutation in the gene (CLN1or PPT1) encoding palmitoyl-protein thioesterase (THIOLESTER HYDROLASES), an enzyme involved in catabolism of lipid-modified proteins.

Concept générique

Synonyme(s)

  • Ceroid-Lipofuscinosis, Neuronal
  • Ceroid Storage Disease
  • Lipofuscinosis, Neuronal Ceroid
  • Lipofuscin Storage Disease
  • Neuronal Ceroid Lipofuscinosis
  • Neuronal Ceroid-Lipofuscinosis

Qualificatif(s) autorisé(s)

Traductions

  • Céroïdes-lipofuscinoses neuronales

    français

  • Céroïde lipofuschinose neuronale
  • Céroïde lipofuschinoses neuronales
  • Céroïde lipofuscinose neuronale
  • Céroïde-lipofuscinoses neuronales
  • Céroïdes lipofuschinoses neuronales
  • Céroïdes lipofuscinoses neuronales
  • CLN (Céroïde lipofuscinose neuronale)
  • Lipofuscinoses céroïdes

URI

http://data.loterre.fr/ark:/67375/JVR-PL3BJRBV-2

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RDF/XML TURTLE JSON-LD Date de création 28/04/1982, dernière modification le 30/06/2021