Hepatolenticular Degeneration
"Hepatolenticular Degeneration" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D006527
|
| MeSH Number(s) |
C06.552.413 C10.228.140.079.493 C10.228.140.163.100.360 C10.228.662.400 C10.574.500.487 C16.320.400.361 C16.320.565.189.360 C16.320.565.618.403 C18.452.132.100.360 C18.452.648.189.360 C18.452.648.618.403
|
| Concept/Terms |
Hepatolenticular Degeneration- Hepatolenticular Degeneration
- Degeneration, Hepatolenticular
- Pseudosclerosis
- Wilson Disease
- Wilson's Disease
- Wilsons Disease
- Cerebral Pseudosclerosis
- Cerebral Pseudoscleroses
- Pseudoscleroses, Cerebral
- Pseudosclerosis, Cerebral
- Hepatolenticular Degeneration Syndrome
- Degeneration Syndrome, Hepatolenticular
- Degeneration Syndromes, Hepatolenticular
- Hepatolenticular Degeneration Syndromes
- Syndrome, Hepatolenticular Degeneration
- Syndromes, Hepatolenticular Degeneration
- Hepato-Neurologic Wilson Disease
- Diseases, Hepato-Neurologic Wilson
- Hepato Neurologic Wilson Disease
- Hepato-Neurologic Wilson Diseases
- Wilson Disease, Hepato-Neurologic
- Wilson Diseases, Hepato-Neurologic
- Hepatocerebral Degeneration
- Degeneration, Hepatocerebral
- Degenerations, Hepatocerebral
- Hepatocerebral Degenerations
- Kinnier-Wilson Disease
- Diseases, Kinnier-Wilson
- Kinnier Wilson Disease
- Kinnier-Wilson Diseases
- Westphal-Strumpell Syndrome
- Westphal Strumpell Syndrome
- Westphal-Strumpell Syndromes
- Copper Storage Disease
- Copper Storage Diseases
- Disease, Copper Storage
- Diseases, Copper Storage
- Storage Disease, Copper
- Storage Diseases, Copper
- Progressive Lenticular Degeneration
- Degeneration, Progressive Lenticular
- Lenticular Degeneration, Progressive
- Neurohepatic Degeneration
- Degeneration, Neurohepatic
- Degenerations, Neurohepatic
- Neurohepatic Degenerations
|
Below are MeSH descriptors whose meaning is more general than "Hepatolenticular Degeneration".
- Diseases [C]
- Digestive System Diseases [C06]
- Liver Diseases [C06.552]
- Hepatolenticular Degeneration [C06.552.413]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Basal Ganglia Diseases [C10.228.140.079]
- Hepatolenticular Degeneration [C10.228.140.079.493]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Hepatolenticular Degeneration [C10.228.140.163.100.360]
- Movement Disorders [C10.228.662]
- Hepatolenticular Degeneration [C10.228.662.400]
- Neurodegenerative Diseases [C10.574]
- Heredodegenerative Disorders, Nervous System [C10.574.500]
- Hepatolenticular Degeneration [C10.574.500.487]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Hepatolenticular Degeneration [C16.320.400.361]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Hepatolenticular Degeneration [C16.320.565.189.360]
- Metal Metabolism, Inborn Errors [C16.320.565.618]
- Hepatolenticular Degeneration [C16.320.565.618.403]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Hepatolenticular Degeneration [C18.452.132.100.360]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Hepatolenticular Degeneration [C18.452.648.189.360]
- Metal Metabolism, Inborn Errors [C18.452.648.618]
- Hepatolenticular Degeneration [C18.452.648.618.403]
Below are MeSH descriptors whose meaning is more specific than "Hepatolenticular Degeneration".
This graph shows the total number of publications written about "Hepatolenticular Degeneration" by people in this website by year, and whether "Hepatolenticular Degeneration" was a major or minor topic of these publications.
View timeline visualization
| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 1 | 1 | 2 |
| 1997 | 2 | 0 | 2 |
| 1998 | 1 | 0 | 1 |
| 1999 | 1 | 0 | 1 |
| 2002 | 2 | 0 | 2 |
| 2003 | 2 | 0 | 2 |
| 2005 | 2 | 1 | 3 |
| 2006 | 3 | 0 | 3 |
| 2007 | 3 | 0 | 3 |
| 2008 | 1 | 0 | 1 |
| 2010 | 2 | 2 | 4 |
| 2012 | 1 | 1 | 2 |
| 2013 | 2 | 1 | 3 |
| 2014 | 2 | 0 | 2 |
| 2015 | 1 | 0 | 1 |
| 2016 | 2 | 0 | 2 |
| 2017 | 4 | 1 | 5 |
| 2018 | 3 | 0 | 3 |
| 2019 | 3 | 0 | 3 |
| 2020 | 3 | 2 | 5 |
| 2021 | 5 | 0 | 5 |
| 2022 | 3 | 0 | 3 |
| 2023 | 4 | 0 | 4 |
| 2024 | 1 | 0 | 1 |
Below are the most recent publications written about "Hepatolenticular Degeneration" by people in Profiles.
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The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data. Mov Disord Clin Pract. 2025 Feb; 12(2):185-195.
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Hepatic oxylipin profiles in mouse models of Wilson disease: New insights into early hepatic manifestations. Biochim Biophys Acta Mol Cell Biol Lipids. 2024 03; 1869(2):159446.
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The role of intestine in metabolic dysregulation in murine Wilson disease. Hepatol Commun. 2023 10 01; 7(10).
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Wilson disease: a summary of the updated AASLD Practice Guidance. Hepatol Commun. 2023 06 01; 7(6).
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Computed tomography of hyper-attenuated liver: Pictorial essay. Clin Imaging. 2023 May; 97:1-6.
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A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology. 2023 04 01; 77(4):1428-1455.
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Monitoring and treatment of Wilson disease: progress and challenges. Lancet Gastroenterol Hepatol. 2022 12; 7(12):1063-1065.
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Insights from Magnetic Evoked Field Analysis in Patients with Wilson's Disease. Neurol India. 2022 Sep-Oct; 70(5):1963-1970.
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Functional tremor in Wilson's disease. Acta Neurol Belg. 2022 04; 122(2):561-563.
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Diagnosis of Wilson Disease and Its Phenotypes by Using Artificial Intelligence. Biomolecules. 2021 08 20; 11(8).