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ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.

Human genetics - 1 Aug 2020

Wallace Daniel F, Dooley James S

Abstract excerpt

Wilson disease (WD) is a genetic disorder of copper metabolism caused by variants in the copper transporting P-type ATPase gene ATP7B. Estimates for WD population prevalence vary with 1 in 30,000 generally quoted. However, some genetic studies have reported much higher prevalence rates. The aim of this study was to estimate the population prevalence of WD and the pathogenicity/penetrance of WD variants by...

Topics

Copper
Copper-Transporting ATPases
Databases, Nucleic Acid
Gene Frequency
Genetic Variation
Hepatolenticular Degeneration
Humans
Penetrance
Prevalence

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 32248359
DOI: 10.1007/s00439-020-02161-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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