MeSH Browser

MeSH Heading: Hepatolenticular Degeneration
Tree 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
Unique ID: D006527
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D006527
Annotation: lenticular refers to the lenticular nucleus in the brain
Scope Note: 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.
Entry Term(s): Cerebral Pseudosclerosis; Copper Storage Disease; Hepatic Form of Wilson Disease; Hepato-Neurologic Wilson Disease; Hepatocerebral Degeneration; Hepatolenticular Degeneration Syndrome; Kinnier-Wilson Disease; Neurohepatic Degeneration; Progressive Lenticular Degeneration; Pseudosclerosis; Westphal-Strumpell Syndrome; Wilson Disease; Wilson Disease, Hepatic Form; Wilson's Disease
NLM Classification #: WI 740
See Also: Copper-Transporting ATPases
Public MeSH Note: 1964; see HEPATO-LENTICULAR DEGENERATION 1963
History Note: 1964(1963)
Date Established: 1964/01/01
Date of Entry: 1999/01/01
Revision Date: 2019/07/11

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Digestive System Diseases [C06]
- Liver Diseases [C06.552]

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Basal Ganglia Diseases [C10.228.140.079]

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Adrenoleukodystrophy [C10.228.140.163.100.084]
        
        Cerebral Amyloid Angiopathy, Familial [C10.228.140.163.100.168]
        
        Galactosemias [C10.228.140.163.100.320]
        
        Hartnup Disease [C10.228.140.163.100.355]
        
        Hepatolenticular Degeneration [C10.228.140.163.100.360]
        
        Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
        
        Homocystinuria [C10.228.140.163.100.365]
        
        Hyperglycinemia, Nonketotic [C10.228.140.163.100.375]
        
        Hyperlysinemias [C10.228.140.163.100.380]
        
        Leigh Disease [C10.228.140.163.100.412]
        
        Lesch-Nyhan Syndrome [C10.228.140.163.100.425]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Maple Syrup Urine Disease [C10.228.140.163.100.520]
        
        MELAS Syndrome [C10.228.140.163.100.535]
        
        Menkes Kinky Hair Syndrome [C10.228.140.163.100.540]
        
        MERRF Syndrome [C10.228.140.163.100.545]
        
        Mevalonate Kinase Deficiency [C10.228.140.163.100.593]
        
        Oculocerebrorenal Syndrome [C10.228.140.163.100.640]
        
        Phenylketonurias [C10.228.140.163.100.687]
        
        Pyruvate Carboxylase Deficiency Disease [C10.228.140.163.100.725]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C10.228.140.163.100.750]
        
        Refsum Disease [C10.228.140.163.100.813]
        
        Refsum Disease, Infantile [C10.228.140.163.100.844]
        
        Tyrosinemias [C10.228.140.163.100.875]
        
        Urea Cycle Disorders, Inborn [C10.228.140.163.100.937]
        
        Zellweger Syndrome [C10.228.140.163.100.968]

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Movement Disorders [C10.228.662]

Nervous System Diseases [C10]
- Neurodegenerative Diseases [C10.574]
  - Heredodegenerative Disorders, Nervous System [C10.574.500]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Heredodegenerative Disorders, Nervous System [C16.320.400]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Metal Metabolism, Inborn Errors [C16.320.565.618]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Metal Metabolism, Inborn Errors [C18.452.648.618]

Hepatolenticular Degeneration Preferred

Concept UI: M0010235
Scope Note: 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.
Terms: Hepatolenticular Degeneration Preferred Term
Term UI T019687
Date01/01/1999
LexicalTag NON
ThesaurusID; Progressive Lenticular Degeneration
Term UI T019688
Date03/30/1974
LexicalTag NON
ThesaurusID UNK (19XX); Pseudosclerosis
Term UI T019689
Date03/30/1974
LexicalTag NON
ThesaurusID UNK (19XX); Wilson Disease
Term UI T019690
Date06/15/1984
LexicalTag EPO
ThesaurusID; Wilson's Disease
Term UI T019691
Date03/30/1974
LexicalTag EPO
ThesaurusID; Cerebral Pseudosclerosis
Term UI T364159
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Neurohepatic Degeneration
Term UI T364160
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Hepato-Neurologic Wilson Disease
Term UI T364161
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Hepatocerebral Degeneration
Term UI T364162
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Kinnier-Wilson Disease
Term UI T364163
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Westphal-Strumpell Syndrome
Term UI T364164
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Copper Storage Disease
Term UI T842695
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Hepatolenticular Degeneration Syndrome
Term UI T842696
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014)

Hepatic Form of Wilson Disease Narrower

Hepatolenticular Degeneration MeSH Descriptor Data 2025