Disease

Wilson disease1, 2

Gene

ATP7B

Inheritance AR
Current Treatments zinc, D-penicillamine, trientine
Evidence for Treatment guideline3
Non-Molecular Testing Availability yes
Non-Molecular Test serum ceruloplasmin and copper, urinary copper1
ClinGen https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC028
Disease Frequency (per 100,000) 8.6654, 5
Genes Included in Disease Frequency ATP7B
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Wilson+Disease&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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