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Wilson's disease is a rare inherited disorder. If both parents carry an abnormal gene for Wilson's disease, there is a 25% chance in each pregnancy that the child will have the disorder.
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Wilson disease is inherited in an autosomal recessive manner. Autosomal recessive refers to the pattern of inheritance in which each parent carries a gene for the disease on one of his or her chromosome pairs.
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WD is caused by errors in a gene located on chromosome 13, which produces a protein named ATP7B. Errors in the ATP7B gene produce a protein with decreased ability to bind copper.
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Wilson disease is inherited in an autosomal recessive manner. Autosomal recessive refers to the pattern of inheritance where each parent carries a gene for the disease on one of his or her chromosome pairs.
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Wilson disease is inherited in an autosomal recessive manner. Autosomal recessive refers to the pattern of inheritance in which each parent carries a gene for the disease on one of his or her chromosome pairs.
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Detailed information on single gene defects and patterns of inheritance Genes are what determine your traits, such as eye color and blood type. They are contained on our chromosomes, which normally number 46 (23 pairs) in each cell of our body. There are an estimated 25,000 genes contained on these 46 chromosomes. Genes are made of DNA. DNA is an acronym for deoxyribonucleic acid. DNA is made up of base pairs that code for certain proteins. So, ultimately, a gene, or a section of our DNA, makes a protein. There is also DNA in-between genes, which does not code for anything in particular, but simply serves as a "spacer." Therefore, not all of the DNA in our cells is used to make protein products.
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Detailed information on single gene defects and patterns of inheritance There are many different single gene defects that require clinical care by a physician or other healthcare professional. Listed in the directory below are some, for which we have provided a brief overview.
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