Disease Atlas / Disease detail

Wilson disease

An atlas of ATP7B-related copper accumulation, hepatic, neurologic and psychiatric disease, diagnosis, and lifelong treatment.

Wilson disease · hepatolenticular degeneration

MONDO:0010200Public QA completeSource-bound · 4

Disease at a glance

Start with the essentials, then explore the patient and research views.

Public revision · 0d7f4a73ec5c

Disease class: Wilson disease is an inherited copper-accumulation disorder.
Core mechanism: Biallelic ATP7B variants cause this recessive disorder.
Genes or cause: Copper accumulates mainly in liver, brain, and cornea.
Typical features: Hepatitis, cirrhosis, or acute liver failure can occur.
Variability: Movement and psychiatric manifestations can occur.
Diagnosis: Diagnosis integrates multiple clinical and biochemical findings.
Management: Ceruloplasmin alone cannot establish diagnosis.
Treatment and research: Urine copper, eye examination, and genetics complement diagnosis.
Reading evidence: Chelators or zinc are used lifelong.
Key caution: Treatment is individualized to limit neurologic worsening.

A structured guide for understanding the disease and preparing for clinical conversations.

Wilson disease is an inherited copper-accumulation disorder.

Hepatitis, cirrhosis, or acute liver failure can occur.

Biallelic ATP7B variants cause this recessive disorder.

Copper accumulates mainly in liver, brain, and cornea.

Movement and psychiatric manifestations can occur.

Diagnosis integrates multiple clinical and biochemical findings.

Ceruloplasmin alone cannot establish diagnosis.

Urine copper, eye examination, and genetics complement diagnosis.

Liver, neurologic status, and copper markers are monitored.

Family testing and treatment adherence require review.

This material is for disease education and is not a personal diagnosis or treatment instruction.

A trial registry status does not establish efficacy or regulatory approval.