Familial amyloidosis classification: Difference between revisions
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==Classification== | ==Classification== | ||
Familiar amyloidosis may be classified according to the type of mutant protein into | Familiar amyloidosis may be 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> | ||
* [[Transthyretin|Transthyretin (TTR)]] | * [[Transthyretin|Transthyretin (TTR)]] | ||
Revision as of 16:58, 13 November 2019
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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 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.