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Wilson disease gene

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Wilson's disease is an autosomal recessive condition, necessitating that both parents carry at least one genetic mutation responsible for Wilson's disease (an abnormal alteration in the gene) which they pass on to the affected offspring. Each child born to parents who are both carriers holds an equal 25% chance of inheriting two mutations responsible for Wilson's disease. The prevalence of this condition is estimated to affect at least one in 30,000 individuals across various races and nationalities. Wilson disease is an autosomal-recessive disorder characterized by the accumulation of copper in hepatocytes due to pathogenic variants in the copper-transporting gene, ATP7B. Timely detection and treatment are crucial to prevent lifelong neuropsychiatric, hepatic, and systemic impairments. Given the significant diversity in age of onset and clinical manifestations, diagnosing Wilson disease poses challenges for physicians. Direct sequencing of the ATP7B gene serves as the most sensitive and commonly employed confirmatory test, while concurrent biochemical testing enhances diagnostic precision. With over 600 identified pathogenic variants in ATP7B, single-nucleotide missense and nonsense mutations predominate, followed by insertions/deletions and, infrequently, splice site mutations. The prevalence of Wilson disease varies geographically, with specific ethnic groups exhibiting a higher frequency of certain mutations. Although Wilson disease demonstrates a poor genotype–phenotype correlation, a few potential modifiers have been suggested. Ongoing advancements in molecular genetic research continue to enhance our understanding of the disease's pathogenesis, diagnosis, and screening strategies.

Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Copper and see a list of existing studies.

SNP polymorphisms related to the topic Copper:

rs3991
rs128648
rs380417
rs383700
rs462281
rs1061472Polymorphisms associated with Wilson's disease. Wilson's disease is an inherited disorder in which excess copper is stored in the body.
rs1801248Polymorphisms associated with Wilson's disease. Wilson's disease is an inherited disorder in which excess copper is stored in the body.
rs1801249Polymorphisms associated with Wilson's disease. Wilson's disease is an inherited disorder in which excess copper is stored in the body.
rs1955611
rs2830008
rs2830051
rs2830076
rs2984659
rs3008821
rs3784077
rs6516727
rs7276036
rs7283136
rs7334118Polymorphisms associated with Wilson's disease. Wilson's disease is an inherited disorder in which excess copper is stored in the body.
rs7574498
rs8020095
rs9689513
rs10147954
rs10148212
rs10817465
rs11623598
rs11848862
rs12515434
rs13095262
rs13098532
rs34259545
rs60986317Polymorphisms associated with Wilson's disease. Wilson's disease is an inherited disorder in which excess copper is stored in the body.
rs76151636Polymorphisms associated with Wilson's disease. Wilson's disease is an inherited disorder in which excess copper is stored in the body.
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