hepatolenticular : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 1 페이지: 1

Hepatolenticular Degeneration - 새창 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.
Synonyms : 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