| Descriptor English: | Hepatolenticular Degeneration | ||||||
| Descriptor Spanish: |
Degeneración Hepatolenticular
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| Descriptor Portuguese: | Degeneração Hepatolenticular | ||||||
| Descriptor French: | Dégénérescence hépatolenticulaire | ||||||
| Entry term(s): |
Cerebral Pseudoscleroses Cerebral Pseudosclerosis Copper Storage Disease Copper Storage Diseases Degeneration Syndrome, Hepatolenticular Degeneration Syndromes, Hepatolenticular Degeneration, Hepatocerebral Degeneration, Hepatolenticular Degeneration, Neurohepatic Degeneration, Progressive Lenticular Degenerations, Hepatocerebral Degenerations, Neurohepatic Disease, Copper Storage Diseases, Copper Storage Diseases, Hepato-Neurologic Wilson Diseases, Kinnier-Wilson Hepatic Form of Wilson Disease Hepato Neurologic Wilson Disease Hepato-Neurologic Wilson Disease Hepato-Neurologic Wilson Diseases Hepatocerebral Degeneration Hepatocerebral Degenerations Hepatolenticular Degeneration Syndrome Hepatolenticular Degeneration Syndromes Kinnier Wilson Disease Kinnier-Wilson Disease Kinnier-Wilson Diseases Lenticular Degeneration, Progressive Neurohepatic Degeneration Neurohepatic Degenerations Progressive Lenticular Degeneration Pseudoscleroses, Cerebral Pseudosclerosis Pseudosclerosis, Cerebral Storage Disease, Copper Storage Diseases, Copper Syndrome, Hepatolenticular Degeneration Syndromes, Hepatolenticular Degeneration Westphal Strumpell Syndrome Westphal-Strumpell Syndrome Westphal-Strumpell Syndromes Wilson Disease Wilson Disease, Hepatic Form Wilson Disease, Hepato-Neurologic Wilson Diseases, Hepato-Neurologic Wilson's Disease Wilsons Disease |
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| 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 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D006527 | ||||||
| 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. |
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| Annotation: | lenticular refers to the lenticular nucleus in the brain |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 1964; see HEPATO-LENTICULAR DEGENERATION 1963 |
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| History Note: | 1964(1963) |
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| Related: |
Copper-Transporting ATPases
MeSH | ||||||
| DeCS ID: | 6684 | ||||||
| Unique ID: | D006527 | ||||||
| NLM Classification: | WI 740 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1964/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2017/01/17 |
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|
Hepatolenticular Degeneration
- Preferred
Hepatic Form of Wilson Disease
- Narrower
| 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. |
| Preferred term | Hepatolenticular Degeneration |
| Entry term(s) |
Cerebral Pseudoscleroses Cerebral Pseudosclerosis Copper Storage Disease Copper Storage Diseases Degeneration Syndrome, Hepatolenticular Degeneration Syndromes, Hepatolenticular Degeneration, Hepatocerebral Degeneration, Hepatolenticular Degeneration, Neurohepatic Degeneration, Progressive Lenticular Degenerations, Hepatocerebral Degenerations, Neurohepatic Disease, Copper Storage Diseases, Copper Storage Diseases, Hepato-Neurologic Wilson Diseases, Kinnier-Wilson Hepato Neurologic Wilson Disease Hepato-Neurologic Wilson Disease Hepato-Neurologic Wilson Diseases Hepatocerebral Degeneration Hepatocerebral Degenerations Hepatolenticular Degeneration Syndrome Hepatolenticular Degeneration Syndromes Kinnier Wilson Disease Kinnier-Wilson Disease Kinnier-Wilson Diseases Lenticular Degeneration, Progressive Neurohepatic Degeneration Neurohepatic Degenerations Progressive Lenticular Degeneration Pseudoscleroses, Cerebral Pseudosclerosis Pseudosclerosis, Cerebral Storage Disease, Copper Storage Diseases, Copper Syndrome, Hepatolenticular Degeneration Syndromes, Hepatolenticular Degeneration Westphal Strumpell Syndrome Westphal-Strumpell Syndrome Westphal-Strumpell Syndromes Wilson Disease Wilson Disease, Hepato-Neurologic Wilson Diseases, Hepato-Neurologic Wilson's Disease Wilsons Disease |
| Concept UI |
M0332756 |
| Preferred term | Hepatic Form of Wilson Disease |
| Entry term(s) |
Wilson Disease, Hepatic Form |
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