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Results 1 - 10 of 38 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. 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
  3. 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
  4. 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
  5. Hirschsprung disease 
    ... conditions, such as Waardenburg syndrome, type IV; Mowat-Wilson syndrome; or congenital central hypoventilation syndrome. These cases are described as syndromic. Hirschsprung disease can also occur without other conditions, and these ...
    https://medlineplus.gov/genetics/condition/hirschsprung-disease - Genetics
  6. Dentinogenesis imperfecta 
    ... 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/condition/dentinogenesis-imperfecta - Genetics
  7. 16p12.2 microdeletion 
    ... Rosenfeld JA, Ballif BC, Shaffer LG, Graves TA, Wilson RK, Schwartz DC, Eichler EE. A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet. 2010 Sep;42(9):745- ...
    https://medlineplus.gov/genetics/condition/16p122-microdeletion - Genetics
  8. CLN7 disease 
    ... Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE. The ... Citation on PubMed
    https://medlineplus.gov/genetics/condition/cln7-disease - Genetics
  9. Crohn's disease 
    ... M, Verspaget HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ, ... of inflammatory bowel disease. Nature. 2012 Nov 1;491(7422):119-24. ...
    https://medlineplus.gov/genetics/condition/crohns-disease - Genetics
  10. Saul-Wilson syndrome 
    ... Free article on PubMed Central Ferreira C. Saul-Wilson Syndrome. ... Diseases Network; Scottish Genome Partnership; Nordgren A, Hammarsjo A, ...
    https://medlineplus.gov/genetics/condition/saul-wilson-syndrome - Genetics
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