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Results 1 - 10 of 84 for Wilson disease
  1. Wilson disease 
    Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and ...
    https://medlineplus.gov/genetics/condition/wilson-disease - Genetics
  2. ATP7B gene 
    ... more than 250 ATP7B gene mutations that cause Wilson disease. About half the mutations change one of the ... European ancestry. Approximately one-third of Asians with Wilson disease have a mutation that replaces the amino acid ...
    https://medlineplus.gov/genetics/gene/atp7b - Genetics
  3. PRNP gene 
    ... also been reported to influence the onset of Wilson disease, an inherited disorder in which excessive amounts of copper build up in the body. Wilson disease is caused by variants in the ATP7B gene, ...
    https://medlineplus.gov/genetics/gene/prnp - Genetics
  4. Menkes syndrome 
    ... Lutsenko S. The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing ... Citation on PubMed Menkes JH. Menkes disease and Wilson disease: two sides of the same copper coin. Part ...
    https://medlineplus.gov/genetics/condition/menkes-syndrome - Genetics
  5. ATP7A gene 
    ... Lutsenko S. The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing ... P, Wijmenga C, Klomp LW. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease ...
    https://medlineplus.gov/genetics/gene/atp7a - Genetics
  6. Mowat-Wilson syndrome 
    ... Gillessen-Kaesbach G, Rott HD, Rauch A. "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
  7. Polycystic kidney disease 
    ... 55. doi: 10.1080/07853890500389181. Citation on PubMed Wilson PD. Polycystic kidney disease. N Engl J Med. 2004 Jan 8;350( ...
    https://medlineplus.gov/genetics/condition/polycystic-kidney-disease - Genetics
  8. PKHD1 gene 
    ... ddg274. Epub 2003 Aug 12. Citation on PubMed Wilson PD. Polycystic kidney disease. N Engl J Med. 2004 Jan 8;350( ...
    https://medlineplus.gov/genetics/gene/pkhd1 - Genetics
  9. PKD2 gene 
    ... 1523-1755.2005.00201.x. Citation on PubMed Wilson PD. Polycystic kidney disease. N Engl J Med. 2004 Jan 8;350( ...
    https://medlineplus.gov/genetics/gene/pkd2 - Genetics
  10. PKD1 gene 
    ... 1523-1755.2005.00201.x. Citation on PubMed Wilson PD. Polycystic kidney disease. N Engl J Med. 2004 Jan 8;350( ...
    https://medlineplus.gov/genetics/gene/pkd1 - Genetics
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