loading...| Preferred Name | Hepatolenticular Degeneration [Disease/Finding] | |
| Synonyms |
Pseudosclerosis Neurohepatic Degeneration Cerebral Pseudosclerosis Hepato-Neurologic Wilson Disease Hepatocerebral Degeneration Progressive Lenticular Degeneration Hepatolenticular Degeneration Kinnier-Wilson Disease Wilson's Disease Hepatolenticular Degeneration Syndrome Westphal-Strumpell Syndrome Copper Storage Disease Wilson Disease |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001510 |
|
| altLabel |
Pseudosclerosis Neurohepatic Degeneration Cerebral Pseudosclerosis Hepato-Neurologic Wilson Disease Hepatocerebral Degeneration Progressive Lenticular Degeneration Hepatolenticular Degeneration Kinnier-Wilson Disease Wilson's Disease Hepatolenticular Degeneration Syndrome Westphal-Strumpell Syndrome Copper Storage Disease Wilson Disease |
|
| cui |
C0019202 |
|
| May be treated by |
http://purl.bioontology.org/ontology/NDFRT/N0000151014 http://purl.bioontology.org/ontology/NDFRT/N0000146301 http://purl.bioontology.org/ontology/NDFRT/N0000151016 http://purl.bioontology.org/ontology/NDFRT/N0000151090 |
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| MESH 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. |
|
| MESH DUI |
D006527 |
|
| MeSH name |
Hepatolenticular Degeneration |
|
| MESH UI |
M0010235 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001510 |
|
| NUI |
N0000001510 |
|
| prefLabel |
Hepatolenticular Degeneration [Disease/Finding] |
|
| SNOMED CID |
88518009 192640001 190823004 |
|
| tui |
T047 |
|
| subClassOf |