Diehtu doahpagis
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
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
...
Central Nervous System Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Nutritional and Metabolic Diseases
Metabolic Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Ávžžuhuvvon tearbma
Hepatolenticular Degeneration
Tiipa
-
Topical Descriptor
Badjedoaba
Stivrentearpmat
- 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
Muituimerkejupmi
- lenticular refers to the lenticular nucleus in the brain
Fuomášahttin
- 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.
Fuomášahttin rievdadanhistorjjás
- 1964(1963)
Eará gielain
-
Finnish
-
degeneration hepatolenticularis
-
hepatolentikulaarinen rappeuma
-
morbus Wilson
-
Wilson
-
Wilsonin tauti
-
Swedish
URI
http://www.yso.fi/onto/mesh/D006527
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