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| {{CMG}} ; {{AE}} | | {{CMG}} ; {{AE}} |
| ==Overview== | | ==Overview== |
| Wild-type (senile) ATTR amyloidosis is a part of familial amyloidosis which may be classified according to the type of [[mutant]] [[protein]] into 6 subtypes: [[Transthyretin]] amyloidosis (TTR), apolipoprotein AI, cystatin C, lysozyme, fibrinogen A alpha-chain, and apolipoprotein AII.
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| ==Classification== | | ==Classification== |
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| Wild-type (senile) ATTR amyloidosis is a part of familial amyloidosis which may be classified according to the type of mutant protein into 6 subtypes:<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>
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| * [[Transthyretin|Transthyretin (TTR)]]
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| * [[Apolipoprotein AI]]
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| * Apolipoprotein AII
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| * [[Fibrinogen A alpha-chain associated amyloidosis|Fibrinogen Aa]]
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| * [[Lysozyme]]
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| * [[Gelsolin]]
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| * [[Cystatin C]]
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| {{familytree/start}}
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| {{familytree | | | | | | | | | | | | | | A01 | | | | | | | | | | | | A01=genes involved in familial amyloidosis}}
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| {{familytree | | |,|-|-|-|v|-|-|-|v|-|-|-|+|-|-|-|v|-|-|-|v|-|-|-|.| | }}
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| {{familytree | | B10 | | B11 | | B12 | | B13 | | B14 | | B15 | | B16 |B10=Transthyretin (TTR)|B11=Apolipoprotein AI|B12=Gelsolin|B13=Lysozyme|B14=Cystatin C|B15=Fibrinogen Aa-chain|B16=Apolipoprotein AII}}
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| {{familytree | | |!| | | |!| | | |!| | | |!| | | |!| | | |!| | | |!| }}
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| {{familytree |boxstyle=text-align: left; | | C01 | | C11 | | C12 | | C13 | | C14 | | C15 | | C16 |C01=Mutations:<br>•Asp18Glu<br>•Leu55Gln<br>•Asp18Gly<br>•His56Arg<br>•Asp18Asn<br>•Leu58His<br>•Val20Ile<br>•Leu58Arg<br>•Ser23Asn<br>•Thr59Lys<br>•Pro24Ser<br>•Thr60Ala<br>•Ala25Ser<br>•Glu61Lys<br>•Ala25Thr|C11=Mutations:<br>•Gly26Arg<br>•Leu60Arg<br>•Trp50Arg<br>•del60-71<br>•del70-72<br>•Leu75Pro<br>•Leu90Pro<br>•Arg173Pro<br>•Leu174Ser<br>•Leu178His|C12=Mutations:<br>•Asp187Asn<br>•Asp187Tyr|C13=Mutations:<br>•Ile56Thr<br>•Asp67His<br>•Trp64Arg<br>•Phe57Ile|C14=Mutation:<br>•Leu68Gln|C15=Mutations:<br>•Arg554Leu<br>•Glu526Val<br>•4904delG<br>•4897delT|C16=Mutations:<br>•stop78Gly<br>•stop78Ser<br>•stop78Arg}}
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| {{familytree | | |!| | | | | | | | | | | | | | | | | | | | | | | | | }}
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| {{familytree |boxstyle=text-align: left; | | D01 | | | | | | | | | | | | | | | | | | | | | | | | D01=<br>•Cys10Arg<br>•Leu55Pro<br>•Leu12Pro<br>•Leu55Arg<br>•Phe64Leu<br>•Val28Met<br>•Phe64Ser<br>•Val30Met<br>•Ile68Leu<br>•Val30Ala<br>•Tyr69His<br>•Val30Leu<br>•Tyr69Ile<br>•Val30Gly<br>•Lys70Asn<br>•Phe33Ile<br>•Val71Ala<br>•Phe33Leu<br>•Ile73Val<br>•Phe33Val<br>•Ser77Tyr<br>•Phe33Cys<br>•Ser77Phe<br>•Arg34Thr<br>•Tyr78Phe<br>•Lys35Asn<br>•Ala81Thr<br>•Ala36Pro<br>•Ile84Ser}}
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| {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
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| {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
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| {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
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| {{familytree/end}}
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