Familial amyloidosis classification: Difference between revisions
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{{Familial amyloidosis}} | {{Familial amyloidosis}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{Fs}} | ||
==Overview== | ==Overview== | ||
Familiar amyloidosis may be classified according to the type of [[mutant]] [[protein]] into 7 subtypes: [[Transthyretin amyloidosis]] (TTR), [[Apolipoprotein AI amyloidosis|apolipoprotein AI]], [[Cystatin C amyloidosis|cystatin C]], [[Lysozyme amyloidosis|lysozyme]], [[Fibrinogen A alpha chain amyloidosis|fibrinogen A alpha-chain]], [[Gelsolin related amyloidosis|gelsolin]], and [[Apolipoprotein AII amyloidosis|apolipoprotein AII]]. | Familiar amyloidosis may be classified according to the type of [[mutant]] [[protein]] into 7 subtypes: [[Transthyretin amyloidosis]] (TTR), [[Apolipoprotein AI amyloidosis|apolipoprotein AI]], [[Cystatin C amyloidosis|cystatin C]], [[Lysozyme amyloidosis|lysozyme]], [[Fibrinogen A alpha chain amyloidosis|fibrinogen A alpha-chain]], [[Gelsolin related amyloidosis|gelsolin]], and [[Apolipoprotein AII amyloidosis|apolipoprotein AII]]. | ||
Revision as of 14:46, 21 November 2019
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Familial amyloidosis Microchapters |
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Familial amyloidosis classification On the Web |
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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: Fahimeh Shojaei, M.D.
Overview
Familiar amyloidosis may be classified according to the type of mutant protein into 7 subtypes: Transthyretin amyloidosis (TTR), apolipoprotein AI, cystatin C, lysozyme, fibrinogen A alpha-chain, gelsolin, and apolipoprotein AII.
Classification
Familiar amyloidosis may be classified according to the type of mutant protein into 7 subtypes:[1][2][3]
- 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.
- ↑ 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.