Familial amyloidosis classification: Difference between revisions
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* [[Gelsolin]] | * [[Gelsolin]] | ||
* [[Cystatin C]] | * [[Cystatin C]] | ||
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{{familytree | | | | | | | | | | | | | | A01 | | | | | | | | | | | | A01=genes involved in familial amyloidosis}} | |||
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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 |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 |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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==References== | ==References== | ||
Revision as of 15:22, 8 November 2019
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Familial amyloidosis Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Familial amyloidosis classification On the Web |
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American Roentgen Ray Society Images of Familial amyloidosis classification |
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Risk calculators and risk factors for Familial amyloidosis classification |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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.
Classification
Familiar amyloidosis may be classified according to the type of mutant protein into 6 subtypes:[1]
- Transthyretin (TTR)
- Apolipoprotein AI
- Apolipoprotein AII
- Fibrinogen Aa
- Lysozyme
- Gelsolin
- Cystatin C
| 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.