Skip to main content

Medical Subject Headings

Search from vocabulary

Content language

Concept information

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
Digestive System Diseases > Liver Diseases > Hepatolenticular Degeneration
Nervous System Diseases > Central Nervous System Diseases > Movement Disorders > Hepatolenticular Degeneration
Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Basal Ganglia Diseases > Hepatolenticular Degeneration
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > 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 > 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
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 > Metabolism, Inborn Errors > Metal Metabolism, Inborn Errors > Hepatolenticular Degeneration

Preferred term

Hepatolenticular Degeneration  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Cerebral Pseudoscleroses
  • Cerebral Pseudosclerosis
  • Copper Storage Disease
  • Copper Storage Diseases
  • Degeneration, Hepatocerebral
  • Degeneration, Neurohepatic
  • Degeneration, Progressive Lenticular
  • Degenerations, Hepatocerebral
  • Degenerations, Neurohepatic
  • Degeneration Syndrome, Hepatolenticular
  • Degeneration Syndromes, Hepatolenticular
  • Disease, Copper Storage
  • Diseases, Copper Storage
  • Diseases, Hepato-Neurologic Wilson
  • Diseases, Kinnier-Wilson
  • Hepatocerebral Degeneration
  • Hepatocerebral Degenerations
  • Hepatolenticular Degeneration Syndrome
  • Hepatolenticular Degeneration Syndromes
  • Hepato Neurologic Wilson Disease
  • Hepato-Neurologic Wilson Disease
  • Hepato-Neurologic Wilson Diseases
  • Kinnier Wilson Disease
  • Kinnier-Wilson Disease
  • Kinnier-Wilson Diseases
  • Lenticular Degeneration, Progressive
  • Neurohepatic Degeneration
  • Neurohepatic Degenerations
  • Progressive Lenticular Degeneration
  • Pseudoscleroses, Cerebral
  • Pseudosclerosis
  • Pseudosclerosis, Cerebral
  • Storage Disease, Copper
  • Storage Diseases, Copper
  • Syndrome, Hepatolenticular Degeneration
  • Syndromes, Hepatolenticular Degeneration
  • Westphal Strumpell Syndrome
  • Westphal-Strumpell Syndrome
  • Westphal-Strumpell Syndromes
  • Wilson Disease
  • Wilson Disease, Hepato-Neurologic
  • Wilson Diseases, Hepato-Neurologic
  • Wilson's Disease
  • Wilsons Disease

Note

  • lenticular refers to the lenticular nucleus in the brain

Scope note

  • 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.

History note

  • 1964(1963)

In other languages

URI

http://www.yso.fi/onto/mesh/D006527

Download this concept:

RDF/XML TURTLE JSON-LD Created 1/1/99, last modified 7/11/19