 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
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| 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
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| Concept/Terms |
Hepatolenticular Degeneration- Hepatolenticular Degeneration
- Degeneration, Hepatolenticular
- Pseudosclerosis
- Wilson Disease
- Wilson's Disease
- Wilsons Disease
- Westphal-Strumpell Syndrome
- Westphal Strumpell Syndrome
- Westphal-Strumpell Syndromes
- Neurohepatic Degeneration
- Degeneration, Neurohepatic
- Degenerations, Neurohepatic
- Neurohepatic Degenerations
- 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
- Progressive Lenticular Degeneration
- Degeneration, Progressive Lenticular
- Lenticular Degeneration, Progressive
- Cerebral Pseudosclerosis
- Cerebral Pseudoscleroses
- Pseudoscleroses, Cerebral
- Pseudosclerosis, Cerebral
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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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1994 | 2 | 1 | 3 | | 1996 | 1 | 0 | 1 | | 1997 | 1 | 1 | 2 | | 1998 | 1 | 0 | 1 | | 1999 | 1 | 1 | 2 | | 2002 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2015 | 2 | 0 | 2 | | 2018 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Hepatolenticular Degeneration" by people in Profiles.
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Capone K, Azzam RK. Wilson's Disease: A Review for the General Pediatrician. Pediatr Ann. 2018 Nov 01; 47(11):e440-e444.
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Tapper EB, Sengupta N, Lai M, Horowitz G. A Decision Support Tool to Reduce Overtesting for Ceruloplasmin and Improve Adherence With Clinical Guidelines. JAMA Intern Med. 2015 Sep; 175(9):1561-2.
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Tapper EB, Sengupta N, Lai M, Horowitz G. Understanding and Reducing Ceruloplasmin Overuse with a Decision Support Intervention for Liver Disease Evaluation. Am J Med. 2016 Jan; 129(1):115.e17-22.
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Dalvi A, Padmanaban M. Wilson's disease: etiology, diagnosis, and treatment. Dis Mon. 2014 Sep; 60(9):450-9.
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Le A, Shibata NM, French SW, Kim K, Kharbanda KK, Islam MS, LaSalle JM, Halsted CH, Keen CL, Medici V. Characterization of timed changes in hepatic copper concentrations, methionine metabolism, gene expression, and global DNA methylation in the Jackson toxic milk mouse model of Wilson disease. Int J Mol Sci. 2014 May 07; 15(5):8004-23.
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Akhan O, Akpinar E, Oto A, Köroglu M, Ozmen MN, Akata D, Bijan B. Unusual imaging findings in Wilson's disease. Eur Radiol. 2002 Dec; 12 Suppl 3:S66-9.
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Buiakova OI, Xu J, Lutsenko S, Zeitlin S, Das K, Das S, Ross BM, Mekios C, Scheinberg IH, Gilliam TC. Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation. Hum Mol Genet. 1999 Sep; 8(9):1665-71.
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Waggoner DJ, Bartnikas TB, Gitlin JD. The role of copper in neurodegenerative disease. Neurobiol Dis. 1999 Aug; 6(4):221-30.
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Frucht S, Sun D, Schiff N, Eidelberg D, Gilliam TC. Arm tremor secondary to Wilson's disease. Mov Disord. 1998 Mar; 13(2):351-3.
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Lutsenko S, Petrukhin K, Gilliam TC, Kaplan JH. Heterologous expression of the metal-binding domains of human copper-transporting ATPases (P1-ATPases). Ann N Y Acad Sci. 1997 Nov 03; 834:155-7.
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