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Hepatolenticular Degeneration
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.

Synonym(s): Cerebral Pseudosclerosis / Neurohepatic Degeneration / Pseudosclerosis / Wilson Disease / Hepatic Form of Wilson Disease / Hepato-Neurologic Wilson Disease / Hepatocerebral Degeneration / Kinnier-Wilson Disease / Progressive Lenticular Degeneration / Westphal-Strumpell Syndrome / Wilson Disease, Hepatic Form / Wilson's Disease / Cerebral Pseudoscleroses / Degeneration, Hepatocerebral / Degeneration, Hepatolenticular / Degeneration, Neurohepatic / Degeneration, Progressive Lenticular / Degenerations, Hepatocerebral / Degenerations, Neurohepatic / Diseases, Hepato-Neurologic Wilson / Diseases, Kinnier-Wilson / Hepato Neurologic Wilson Disease / Hepato-Neurologic Wilson Diseases / Hepatocerebral Degenerations / Kinnier Wilson Disease / Kinnier-Wilson Diseases / Lenticular Degeneration, Progressive / Neurohepatic Degenerations / Pseudoscleroses, Cerebral / Pseudosclerosis, Cerebral / Westphal Strumpell Syndrome / Westphal-Strumpell Syndromes / Wilson Disease, Hepato-Neurologic / Wilson Diseases, Hepato-Neurologic / Wilsons Disease
MeSH 2010 © U.S. National Library of Medicine®.
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  More information from the Genetics Home Reference Website
What is Wilson disease?
Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. Typically, signs and symptoms of Wilson disease first appear between the ages of 6 and 40, but most often begin during the teenage years.
Liver disease is usually the initial feature of Wilson disease in people between the ages of 6 and 45. Signs and symptoms of liver disease include yellowing of the skin or the whites of the eye (jaundice), fatigue, loss of appetite, and abdominal swelling. Psychiatric or nervous system p ...

How common is Wilson disease?
Wilson disease is a rare disorder that affects approximately 1 in 30,000 individuals.


More information from the Genetics Home Reference Website
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  Web resources for "Hepatolenticular Degeneration"
  English (23)  French (2)  German (1)  Spanish (3)  Portuguese (1)    

= Site with HON description   -   = Site with a robot description
info: enter the site: (click below) domain of the site:  
view the HON description of the site HONcode - Wilson Disease - National Digestive Diseases Information Clearinghouse www.niddk.nih.gov  
view the HON description of the site HONcode - Wilson Disease - National Digestive Diseases Information Clearinghouse www.digestive.niddk.nih.gov  
view the HON description of the site HONcode - Wilson Disease - National Digestive Diseases Information Clearinghouse digestive.niddk.nih.gov  
view the HON description of the site HONcode - Wilson disease - Genetics Home Referenceghr.nlm.nih.gov 3
view the HON description of the site HONcode - http://www.healthatoz.com/healthatoz/Ato...www.healthatoz.com  
view the HON description of the site HONcode - Wilson Disease: MedlinePluswww.nlm.nih.gov 5
view the robot description of the site Wilson Disease Association (WDA) Internationalwww.wilsonsdisease.org  
view the robot description of the site Wilson Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)www.ninds.nih.gov 2
view the HON description of the site HONcode - Hepatocerebral degenerationwww.healthcentral.com 3
view the robot description of the site WE MOVE - Wilson Diseasewww.wemove.org 2
view the robot description of the site Whonamedit - Wilson's diseasewww.whonamedit.com 2
view the robot description of the site Wilson's Disease Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.comwww.wrongdiagnosis.com  
view the HON description of the site HONcode - Orphanet: Wilson diseasewww.orpha.net 2
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Broader term(s): - Liver Diseases - Digestive System Diseases - Basal Ganglia Diseases - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Movement Disorders - Neurodegenerative Diseases - Metabolism, Inborn Errors - Genetic Diseases, Inborn - Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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  Medical image(s) for "Hepatolenticular Degeneration"
click below to enlargeWilson Disease - Hepatolenticular Degeneration. Due to a defect in copper metabolism. Kayser-Fleischer ring in cornea.
pathology.mc.duke.edu
Copyright © Duke Neuropathology Wilson Disease - Hepatolenticular Degeneration. Due to a defect in copper metabolism. Kayser-Fleischer ring in cornea.
Broader term(s): - Brain Diseases - Nervous System Diseases - Brain Diseases, Metabolic
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  Medical News for "Hepatolenticular Degeneration"
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Broader term(s): - Liver Diseases - Nervous System Diseases

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  Scientific articles from MEDLINE for "Hepatolenticular Degeneration"
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  Clinical Trials for "Hepatolenticular Degeneration"
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Broader term(s): - Liver Diseases - Digestive System Diseases - Basal Ganglia Diseases - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Movement Disorders - Neurodegenerative Diseases - Metabolism, Inborn Errors - Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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Broader term(s): - Movement Disorders

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  Broader term(s):
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Metabolism, Inborn Errors
                      Metal Metabolism, Inborn Errors 
                      Brain Diseases, Metabolic, Inborn 
                  Brain Diseases, Metabolic
                      Brain Diseases, Metabolic, Inborn 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Metabolism, Inborn Errors
                      Metal Metabolism, Inborn Errors 
                      Brain Diseases, Metabolic, Inborn 
                  Heredodegenerative Disorders, Nervous System 
      Diseases
          Nervous System Diseases
              Neurodegenerative Diseases
                  Heredodegenerative Disorders, Nervous System 
              Central Nervous System Diseases
                  Movement Disorders 
                  Brain Diseases
                      Brain Diseases, Metabolic
                          Brain Diseases, Metabolic, Inborn 
      Diseases
          Nervous System Diseases
              Central Nervous System Diseases
                  Brain Diseases
                      Basal Ganglia Diseases 
      Diseases
          Digestive System Diseases
              Liver Diseases 

MeSH 2010 © U.S. National Library of Medicine®.

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