Concept information
Nutritional and Metabolic Diseases
Metabolic Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
...
Central Nervous System Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Metal Metabolism, Inborn Errors
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Metal Metabolism, Inborn Errors
Preferred term
Hepatolenticular Degeneration
Type
-
mesh:Descriptor
Definition
- 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.
Broader concept
Entry terms
- 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
Allowable Qualifier(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
In other languages
-
French
-
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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