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Condition report · Metabolic
Whole genome sequencing identifies ATP7B variants that cause Wilson disease enabling prompt chelation therapy and dietary management.
A condition report looks for rare variants known to cause the conditions it covers.
A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.
Wilson disease is an autosomal recessive metabolic disorder caused by ATP7B mutations, which encode a copper-transporting ATPase essential for hepatic copper excretion into bile and for incorporating copper into ceruloplasmin. Loss-of-function ATP7B variants impair copper excretion, causing pathological accumulation in the liver, brain (basal ganglia), and other organs. Clinical manifestations include progressive hepatic cirrhosis and neurological copper deposition leading to tremor, rigidity, dysgraphia, and behavioral changes. The disease is unique among genetic disorders: it is entirely treatable and preventable: early chelation therapy before symptom onset completely prevents all disease manifestations.
Wilson disease affects approximately 1 in 30,000 to 1 in 50,000 individuals worldwide; carrier frequency is approximately 1 in 90. Over 600 ATP7B variants have been identified, with significant population-specific variation. Approximately 70% of variants are private or population-specific; the H1069Q variant is most common in European populations (responsible for 30-70% of cases depending on ancestry), while R778L and other variants predominate in other populations. Most patients are compound heterozygotes. Clinical presentation typically occurs in adolescence or early adulthood; hepatic manifestations predominate in children under 10, while neurological symptoms dominate in older patients.
Early genetic diagnosis and treatment are life-altering. A confirmed ATP7B pathogenic variant mandates immediate initiation of chelation therapy with D-penicillamine or trientine, followed by long-term zinc acetate maintenance therapy. Asymptomatic siblings and first-degree relatives identified through cascade screening should begin prophylactic zinc therapy immediately. Hepatic response to chelation occurs within 2-6 months; neurological improvement (when started presymptomatically or early) occurs over 6-18 months. Untreated Wilson disease is uniformly fatal, leading to hepatic failure or irreversible neurological deterioration. With early molecular diagnosis and intervention, Wilson disease represents one of the rare genetic diseases where genetic testing provides a genuine cure-like outcome.
Autosomal recessive
A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.
What a diagnosis changes
Copper chelation therapy, zinc acetate, dietary copper restriction, liver transplantation for fulminant hepatic failure
Genes analysed
Also known as
hepatolenticular degeneration; WD; Westphal-Strumpell syndrome; Wilson's disease
Wilson disease is underscreened because it's not included in broad genetic panels. Over 600 ATP7B variants exist, many population-specific and easy to miss.
Wilson disease is rarely detected by broad genetic panels because ATP7B testing is not standard. The variant landscape is highly diverse: over 600 distinct ATP7B mutations exist, with approximately 70% being private or population-specific variants. Standard next-generation sequencing may miss large deletions or rare variants, particularly in non-European populations. Testing modalities vary globally, and a negative result does not exclude Wilson disease if clinical biochemical markers (ceruloplasmin, serum copper, 24-hour urine copper) remain abnormal. Whole genome sequencing captures the entire ATP7B gene and enables detection of structural variants that targeted approaches might miss.
Once ATP7B variants are identified, treatment response is dramatic. Chelation therapy with D-penicillamine or trientine rapidly lowers copper levels; zinc acetate blocks new copper absorption and maintains long-term control. Early treatment, before symptom onset in asymptomatic family members, completely prevents disease manifestations. Hepatic improvement begins within 2-6 months; neurological improvement follows over 6-18 months if started presymptomatically. The genetic diagnosis enables cascade screening of all siblings and first-degree relatives, who should begin prophylactic zinc therapy regardless of biochemical copper status.
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