Familial amyloidosis classification: Difference between revisions

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Latest revision as of 16:57, 7 February 2020

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.

Overview

Familiar amyloidosis may be classified according to the type of mutant protein into 7 subtypes: Transthyretin (TTR), apolipoprotein AI, cystatin C, lysozyme, fibrinogen A alpha-chain, gelsolin, and apolipoprotein AII.

Classification

Familial amyloidosis may be classified according to the type of mutant protein into 7 subtypes:^[1]^[2]^[3]

Genes involved in familial amyloidosis

Transthyretin (TTR)

Apolipoprotein AI

Gelsolin

Lysozyme

Cystatin C

Fibrinogen Aa-chain

Apolipoprotein AII

Mutations:
• Asp18Glu
• Leu55Gln
• Asp18Gly
• His56Arg
• Asp18Asn
• Leu58His
• Val20Ile
• Leu58Arg
• Ser23Asn
• Thr59Lys
• Pro24Ser
• Thr60Ala
• Ala25Ser
• Glu61Lys
• Ala25Thr

Mutations:
• Gly26Arg
• Leu60Arg
• Trp50Arg
• del60-71
• del70-72
• Leu75Pro
• Leu90Pro
• Arg173Pro
• Leu174Ser
• Leu178His

Mutations:
•Asp187Asn
•Asp187Tyr

Mutations:
• Ile56Thr
• Asp67His
• Trp64Arg
• Phe57Ile

Mutation:
• Leu68Gln

Mutations:
• Arg554Leu
• Glu526Val
• 4904delG
• 4897delT

Mutations:
• stop78Gly
• stop78Ser
• stop78Arg

• Cys10Arg
• Leu55Pro
• Leu12Pro
• Leu55Arg
• Phe64Leu
• Val28Met
• Phe64Ser
• Val30Met
• Ile68Leu
• Val30Ala
• Tyr69His
• Val30Leu
• Tyr69Ile
• Val30Gly
• Lys70Asn
• Phe33Ile
• Val71Ala
• Phe33Leu
• Ile73Val
• Phe33Val
• Ser77Tyr
• Phe33Cys
• Ser77Phe
• Arg34Thr
• Tyr78Phe
• Lys35Asn
• Ala81Thr
• Ala36Pro
• Ile84Ser

References

↑ 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.

Template:WH Template:WS

[Benson2003-1] 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.

[Benson20032-2] 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.

[3] Scriver, Charles (2001). The metabolic & molecular bases of inherited disease. New York: McGraw-Hill. ISBN 978-0079130358.

[1]

[2]

[3]

@@ Line 2: / Line 2: @@
 {{Familial amyloidosis}}
-{{CMG}}; {{AE}}
+{{CMG}}; {{AE}} {{Fs}}
 ==Overview==
-Familiar amyloidosis 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.
+Familiar amyloidosis may be classified according to the type of [[mutant]] [[protein]] into 7 subtypes: [[Transthyretin|Transthyretin (TTR)]], [[Apolipoprotein AI amyloidosis|apolipoprotein AI]], [[Cystatin C amyloidosis|cystatin C]], [[Lysozyme amyloidosis|lysozyme]], [[Fibrinogen A alpha-chain associated amyloidosis|fibrinogen A alpha-chain]], [[Gelsolin related amyloidosis|gelsolin]], and [[Apolipoprotein AII amyloidosis|apolipoprotein AII]].
+==Classification==
-<br />
+Familial amyloidosis may be [[Classification|classified]] according to the type of [[mutant]] [[protein]] into 7 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>
-==Classification==
+* [[Transthyretin|Transthyretin (TTR)]]
+* [[Apolipoprotein AI]]
+* Apolipoprotein AII
+* [[Fibrinogen A alpha-chain associated amyloidosis|Fibrinogen Aa]]
+* [[Lysozyme]]
+* [[Gelsolin]]
+* [[Cystatin C]]
-Familiar amyloidosis 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>
-* transthyretin amyloidosis (TTR)
+{{familytree/start}}
-* apolipoprotein AI
+{{familytree | | | | | | | | | | | | | | A01 | | | | | | | | | | | | A01='''Genes involved in familial amyloidosis'''}}
-* cystatin C
+{{familytree | | |,|-|-|-|v|-|-|-|v|-|-|-|+|-|-|-|v|-|-|-|v|-|-|-|.| | }}
-* lysozyme
+{{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'''}}
-* fibrinogen A alpha-chain
+{{familytree | | |!| | | |!| | | |!| | | |!| | | |!| | | |!| | | |!| }}
-* apolipoprotein AII
+{{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}}
+{{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}}
+{{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
+{{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
+{{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
+{{familytree/end}}
 ==References==

Familial amyloidosis classification: Difference between revisions

Latest revision as of 16:57, 7 February 2020

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