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Disease Hepatolenticular Degeneration

Name Hepatolenticular Degeneration
Synonyms Cerebral Pseudoscleroses | Cerebral Pseudosclerosis | Copper Storage Disease | Degeneration, Hepatocerebral | Degeneration, Hepatolenticular | Degeneration, Neurohepatic | Degeneration, Progressive Lenticular | Degenerations, Hepatocerebral | Degenerations, Neurohepatic | Diseases, Hepato-Neurologic Wilson | Diseases, Kinnier-Wilson | Hepatic Form of Wilson Disease | Hepatocerebral Degeneration | Hepatocerebral Degenerations | HEPATOLENTICULAR DEGENERATION | Hepatolenticular Degeneration Syndrome | 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 | WD | Westphal Strumpell Syndrome | Westphal-Strumpell Syndrome | Westphal-Strumpell Syndromes | Wilson Disease | Wilson Disease, Hepatic Form | Wilson Disease, Hepato-Neurologic | Wilson Diseases, Hepato-Neurologic | Wilson's Disease | Wilsons Disease | WND
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.
Categories Digestive system disease | Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D006527
OMIM® ID 277900
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Top ↑ Ancestors

1. DiseasesDigestive System Diseases Has associated chemicals Has associated genes Has associated exposure references Liver Diseases Has associated chemicals Has associated genes Has associated exposure references Hepatolenticular Degeneration Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Basal Ganglia Diseases Has associated chemicals Has associated genes Has associated exposure references Hepatolenticular Degeneration Has associated chemicals Has associated genes
3. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hepatolenticular Degeneration Has associated chemicals Has associated genes
4. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Movement Disorders Has associated chemicals Has associated genes Has associated exposure references Hepatolenticular Degeneration Has associated chemicals Has associated genes
5. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurodegenerative Diseases Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Hepatolenticular Degeneration Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Hepatolenticular Degeneration Has associated chemicals Has associated genes
7. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hepatolenticular Degeneration Has associated chemicals Has associated genes
8. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Metal Metabolism, Inborn Errors Has associated chemicals Has associated genes Hepatolenticular Degeneration Has associated chemicals Has associated genes
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hepatolenticular Degeneration Has associated chemicals Has associated genes
10. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hepatolenticular Degeneration Has associated chemicals Has associated genes
11. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Metal Metabolism, Inborn Errors Has associated chemicals Has associated genes Hepatolenticular Degeneration Has associated chemicals Has associated genes

Top ↑ Descendants

Hepatolenticular Degeneration Has associated chemicals Has associated genes
  Copper-Overload Cirrhosis Has associated chemicals Has associated genes
  Westphal disease Has associated chemicals Has associated genes