Hepatolenticular Degeneration

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.

Also Known As:

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

Digestive System Diseases: 1068
- Liver Diseases: 42767
  - Hepatolenticular Degeneration: 4002
Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Hepatolenticular Degeneration: 4002
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Basal Ganglia Diseases: 350
      - Hepatolenticular Degeneration: 4002
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Hepatolenticular Degeneration: 4002
  - Movement Disorders: 4780
    - Hepatolenticular Degeneration: 4002
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Hepatolenticular Degeneration: 4002
    - Inborn Errors Metal Metabolism
      - Hepatolenticular Degeneration: 4002
  - Nervous System Heredodegenerative Disorders: 62
    - Hepatolenticular Degeneration: 4002
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Hepatolenticular Degeneration: 4002
    - Inborn Errors Metal Metabolism
      - Hepatolenticular Degeneration: 4002
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Hepatolenticular Degeneration: 4002

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Drug/Important Bio-Agent (IBA)