Wilson's disease causes: Difference between revisions
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==Causes== | ==Causes== | ||
*Wilson's disease is caused mainly by mutations in the [[genes]] responsible for copper transport. | *Wilson's disease is caused mainly by [[mutations]] in the [[genes]] responsible for [[copper]] transport. | ||
*[[Genetic mutations]]: | *[[Genetic mutations]]:<ref name="pmid8298639">{{cite journal| author=Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW| title=The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. | journal=Nat Genet | year= 1993 | volume= 5 | issue= 4 | pages= 327-37 | pmid=8298639 | doi=10.1038/ng1293-327 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8298639 }}</ref> | ||
**[[ATP7B|ATP7B ''gene'']] | **[[ATP7B|ATP7B ''gene'']] | ||
*Impairment of copper transport mechanisms include the following: | *Impairment of copper transport mechanisms include the following:<ref name="pmid8298641">{{cite journal| author=Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B et al.| title=The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. | journal=Nat Genet | year= 1993 | volume= 5 | issue= 4 | pages= 344-50 | pmid=8298641 | doi=10.1038/ng1293-344 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8298641 }}</ref> | ||
**Imapired [[copper]] incorporation in [[ceruloplasmin]] | **Imapired [[copper]] incorporation in [[ceruloplasmin]] | ||
**Copper accumulation in the [[liver]] | **[[Copper]] accumulation in the [[liver]] | ||
**Extrahepatic copper accumulation | **Extrahepatic [[copper]] accumulation | ||
==References== | ==References== | ||
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{{WS}} | {{WS}} | ||
[[Category:Gastroenterology]] | [[Category:Gastroenterology]] | ||
[[Category:Hematology]] | |||
[[Category:Medicine]] | |||
[[Category:Up-To-Date]] | |||
Latest revision as of 20:25, 19 September 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]
Overview
Wilson's disease is caused by ATP7B gene mutation and impairement of copper transportation.
Causes
- Wilson's disease is caused mainly by mutations in the genes responsible for copper transport.
- Genetic mutations:[1]
- Impairment of copper transport mechanisms include the following:[2]
- Imapired copper incorporation in ceruloplasmin
- Copper accumulation in the liver
- Extrahepatic copper accumulation
References
- ↑ Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993). "The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene". Nat Genet. 5 (4): 327–37. doi:10.1038/ng1293-327. PMID 8298639.
- ↑ Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B; et al. (1993). "The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene". Nat Genet. 5 (4): 344–50. doi:10.1038/ng1293-344. PMID 8298641.