Familial amyloidosis causes: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Familial amyloidosis}} | {{Familial amyloidosis}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{Fs}} | ||
== Overview == | == Overview == | ||
Hereditary amyloidosis can be caused by [[genetic mutations]] in | Hereditary amyloidosis can be caused by [[genetic mutations]] in [[genes]] encoding [[Transthyretin amyloidosis|transthyretin]], [[Apolipoprotein AI amyloidosis|apolipoprotein AI]], [[Apolipoprotein AII amyloidosis|apolipoprotein AII]], [[Lysozyme amyloidosis|Lysozyme]], [[Gelsolin related amyloidosis|gelsolin]], [[Fibrinogen A alpha chain amyloidosis|fibrinogen Aa-chain]], and [[Cystatin C amyloidosis|cystatin C]]. | ||
==Causes== | ==Causes== | ||
=== Common Causes === | === Common Causes === | ||
Common causes of familial amyloidosis may include genetic mutations in:<ref name="pmid8464497">{{cite journal |vauthors=Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ |title=Human lysozyme gene mutations cause hereditary systemic amyloidosis |journal=Nature |volume=362 |issue=6420 |pages=553–7 |date=April 1993 |pmid=8464497 |doi=10.1038/362553a0 |url=}}</ref> | Common causes of familial amyloidosis may include genetic mutations in:<ref name="pmid8464497">{{cite journal |vauthors=Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ |title=Human lysozyme gene mutations cause hereditary systemic amyloidosis |journal=Nature |volume=362 |issue=6420 |pages=553–7 |date=April 1993 |pmid=8464497 |doi=10.1038/362553a0 |url=}}</ref><ref name="Benson2003">{{cite journal|last1=Benson|first1=Merrill D|title=The hereditary amyloidoses|journal=Best Practice & Research Clinical Rheumatology|volume=17|issue=6|year=2003|pages=909–927|issn=15216942|doi=10.1016/j.berh.2003.09.001}}</ref><ref name="Benson20032">{{cite journal|last1=Benson|first1=Merrill D|title=The hereditary amyloidoses|journal=Best Practice & Research Clinical Rheumatology|volume=17|issue=6|year=2003|pages=909–927|issn=15216942|doi=10.1016/j.berh.2003.09.001}}</ref><ref>{{cite book | last = Scriver | first = Charles | title = The metabolic & molecular bases of inherited disease | publisher = McGraw-Hill | location = New York | year = 2001 | isbn = 978-0079130358 }}</ref> | ||
* [[Transthyretin|Transthyretin (TTR)]] | |||
* [[Apolipoprotein AI]] | |||
* Apolipoprotein AII | |||
* [[Fibrinogen A alpha-chain associated amyloidosis|Fibrinogen Aa]] | |||
* [[Lysozyme]] | |||
* [[Gelsolin]] | |||
* [[Cystatin C]] | |||
== References == | == References == | ||
Latest revision as of 19:11, 7 February 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.
Overview
Hereditary amyloidosis can be caused by genetic mutations in genes encoding transthyretin, apolipoprotein AI, apolipoprotein AII, Lysozyme, gelsolin, fibrinogen Aa-chain, and cystatin C.
Causes
Common Causes
Common causes of familial amyloidosis may include genetic mutations in:[1][2][3][4]
- Transthyretin (TTR)
- Apolipoprotein AI
- Apolipoprotein AII
- Fibrinogen Aa
- Lysozyme
- Gelsolin
- Cystatin C
References
- ↑ Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ (April 1993). "Human lysozyme gene mutations cause hereditary systemic amyloidosis". Nature. 362 (6420): 553–7. doi:10.1038/362553a0. PMID 8464497.
- ↑ Benson, Merrill D (2003). "The hereditary amyloidoses". Best Practice & Research Clinical Rheumatology. 17 (6): 909–927. doi:10.1016/j.berh.2003.09.001. ISSN 1521-6942.
- ↑ Benson, Merrill D (2003). "The hereditary amyloidoses". Best Practice & Research Clinical Rheumatology. 17 (6): 909–927. doi:10.1016/j.berh.2003.09.001. ISSN 1521-6942.
- ↑ Scriver, Charles (2001). The metabolic & molecular bases of inherited disease. New York: McGraw-Hill. ISBN 978-0079130358.