 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
- 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
- Wilson's Disease
- Wilsons Disease
- Progressive Lenticular Degeneration
- Degeneration, Progressive Lenticular
- Lenticular Degeneration, Progressive
- Pseudosclerosis
- Wilson Disease
- Cerebral Pseudosclerosis
- Cerebral Pseudoscleroses
- Pseudoscleroses, Cerebral
- Pseudosclerosis, Cerebral
- Westphal-Strumpell Syndrome
- Westphal Strumpell Syndrome
- Westphal-Strumpell Syndromes
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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 UAMS Profiles 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 |
|---|
| 2021 | 1 | 0 | 1 | | 2013 | 1 | 0 | 1 | | 2009 | 1 | 0 | 1 | | 1994 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Hepatolenticular Degeneration" by people in Profiles over the past ten years.
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Bornhorst JA, Bitzer AC, Day PL, Wermers M, Smith CY, Pazdernik VK, Pelto R, Sankaran B, Quicquaro A, Jannetto PJ. Total Copper and Labile Bound Copper Fraction as a Selective and Sensitive Tool in the Evaluation of Wilson Disease. J Appl Lab Med. 2024 Nov 04; 9(6):1014-1027.
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Bitzer AC, Fox J, Day PL, Pazdernik VK, Smith CY, Wermers M, Jannetto PJ, Bornhorst JA. Establishment of a Labile Bound Copper Reference Interval in a Healthy Population via an Inductively Coupled Plasma Mass Spectrometry Dual Filtration-Based Assay. Arch Pathol Lab Med. 2024 Jul 01; 148(7):818-827.
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Rowan DJ, Mangalaparthi KK, Singh S, Moreira RK, Mounajjed T, Lamps L, Westerhoff M, Cheng J, Bellizzi AM, Allende DS, Pandey A, Graham RP. Metallothionein immunohistochemistry has high sensitivity and specificity for detection of Wilson disease. Mod Pathol. 2022 07; 35(7):946-955.
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