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Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Basal Ganglia Diseases > Hepatolenticular Degeneration
Nervous System Diseases > Central Nervous System Diseases > Movement Disorders > Hepatolenticular Degeneration
Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Hepatolenticular Degeneration
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Hepatolenticular Degeneration
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Hepatolenticular Degeneration
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Hepatolenticular Degeneration
Digestive System Diseases > Liver Diseases > Hepatolenticular Degeneration
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Metal Metabolism, Inborn Errors > Hepatolenticular Degeneration
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Metal Metabolism, Inborn Errors > Hepatolenticular Degeneration
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Hepatolenticular Degeneration
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Hepatolenticular Degeneration

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Hepatolenticular Degeneration  

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Tipo

  • mesh:Descriptor

Definición

  • A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

  • Cerebral Pseudosclerosis
  • Copper Storage Disease
  • Hepatocerebral Degeneration
  • Hepatolenticular Degeneration Syndrome
  • Hepato-Neurologic Wilson Disease
  • Kinnier-Wilson Disease
  • Neurohepatic Degeneration
  • Progressive Lenticular Degeneration
  • Pseudosclerosis
  • Westphal-Strumpell Syndrome
  • Wilson Disease
  • Wilson's Disease

En otras lenguas

  • Dégénérescence hépatolenticulaire

    francés

  • Dégénérescence hépato-lenticulaire
  • Dégénérescence hépatocérébrale
  • Dégénérescence hépatolenticulaire progressive
  • Dégénérescence lenticulaire progressive
  • Maladie de Wilson
  • Pseudosclérose cérébrale
  • Syndrome de Westphal-Strümpell

URI

http://data.loterre.fr/ark:/67375/JVR-DJ1MS0WT-2

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