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degenerácia hepatolentikulárna
Record number d006527 Date 06.06.2025 Type M Topical term degenerácia hepatolentikulárna Other term English (Pseudonym) Cerebral Pseudosclerosis
English (Pseudonym) Neurohepatic Degeneration
English (Pseudonym) Pseudosclerosis
English (Pseudonym) Wilson Disease
Slovak (Pseudonym) Wilsonova choroba
Slovak (Pseudonym) pseudoskleróza cerebrálna
Slovak (Pseudonym) degenerácia neurohepatická
Slovak (Pseudonym) pseudoskleróza
See also (Skutočné meno) ATPázy transportujúce meď
(Later heading) ATPázy transportujúce meď
UDC C06.552.413C10.228.140.079.493C10.228.140.163.100.360C10.228.662.400C10.574.500.487C16.320.400.361C16.320.565.189.360C16.320.565.618.403C18.452.132.100.360C18.452.648.189.360C18.452.648.618.403 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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