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Results 1 - 10 of 42 for Wilson disease
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. SLC52A3 gene 
    ... McShane MA, Boyd S, Harding B, Brett EM, Wilson J. Progressive bulbar paralysis of childhood. A reappraisal of Fazio-Londe disease. Brain. 1992 Dec;115 ( Pt 6):1889-900. ...
    https://medlineplus.gov/genetics/gene/slc52a3 - Genetics
  8. DSPP gene 
    ... DA, Suzanne Hart P, Hart TC, Hartsfield JK, Wilson A, Wright JT, Fisher LW. A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. Hum ...
    https://medlineplus.gov/genetics/gene/dspp - Genetics
  9. COL4A4 gene 
    ... Gene ClinVar Buzza M, Dagher H, Wang YY, Wilson D, Babon JJ, Cotton RG, Savige J. Mutations in the COL4A4 gene in thin basement membrane disease. Kidney Int. 2003 Feb;63(2):447-53. ...
    https://medlineplus.gov/genetics/gene/col4a4 - Genetics
  10. HDAC8 gene 
    ... condition in this family has been described as Wilson-Turner syndrome, which is a form of X-linked intellectual disability. However, researchers speculate that it may actually be part of the same disease spectrum as Cornelia de Lange syndrome (described above). ...
    https://medlineplus.gov/genetics/gene/hdac8 - Genetics
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