Hepatolenticular Degeneration
Recent clinical, regulatory, research and industry developments relating to this disease.
Approval: Cuprior (EMA)
Approval: Wilzin (EMA)
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes4
- Hepatolenticular Degeneration2
- Autoimmunity1
- Inflammation1
- Magnetic Resonance Imaging1
Leading journals2
- International journal of molecular sciences1
- Neurology1
Leading researchers8
- Czerwińska J1
- Dong Y1
- Dusek P1
- Feng T1
- Gromadzka G1
- Jing J1
- Krzemińska E1
- Lam JST1
Affiliations (unnormalised)4
- Beijing Tiantan Hospital1
- Cardinal Stefan Wyszynski University1
- Institute of Psychiatry and Neurology1
- Medical University of Warsaw1
Disease biology
Key proteins & gene products studied in this disease. Number shows shared papers.
Reference
Authoritative identity, definition & identifiers.
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.
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.