Andersen-Tawil syndrome classification: Difference between revisions
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==Overview== | ==Overview== | ||
Andersen–Tawil syndrome may be classified according to genetic mutations into two groups: Type 1 Andersen–Tawil syndrome and type 2 Andersen–Tawil syndrome | |||
* Type 1, which accounts for about 60 percent of all cases of the disorder, is caused by mutations in the ''[[KCNJ2]]'' [[gene]]. <ref>{{cite journal|author=Tristani-Firouzi M, Jensen JL, Donaldson MR, ''et al'' |title=Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome) |journal=J. Clin. Invest. |volume=110 |issue=3 |pages=381-8 |year=2002 |pmid=12163457 |doi=}}</ref><ref>{{cite journal |author=Pegan S, Arrabit C, Slesinger PA, Choe S |title=Andersen's syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1|journal=Biochemistry|volume=45 |issue=28 |pages=8599-606 |year=2006 |pmid=16834334 |doi=10.1021/bi060653d}}</ref> | * Type 1, which accounts for about 60 percent of all cases of the disorder, is caused by mutations in the ''[[KCNJ2]]'' [[gene]]. <ref>{{cite journal|author=Tristani-Firouzi M, Jensen JL, Donaldson MR, ''et al'' |title=Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome) |journal=J. Clin. Invest. |volume=110 |issue=3 |pages=381-8 |year=2002 |pmid=12163457 |doi=}}</ref><ref>{{cite journal |author=Pegan S, Arrabit C, Slesinger PA, Choe S |title=Andersen's syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1|journal=Biochemistry|volume=45 |issue=28 |pages=8599-606 |year=2006 |pmid=16834334 |doi=10.1021/bi060653d}}</ref> | ||
* The remaining 40 percent of cases are designated as type 2; the cause of the condition in these cases is unknown. | * The remaining 40 percent of cases are designated as type 2; the cause of the condition in these cases is unknown. | ||
Revision as of 17:02, 28 January 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Charmaine Patel, M.D. [2]; Raviteja Guddeti, M.B.B.S. [3]
Overview
Andersen–Tawil syndrome may be classified according to genetic mutations into two groups: Type 1 Andersen–Tawil syndrome and type 2 Andersen–Tawil syndrome
- Type 1, which accounts for about 60 percent of all cases of the disorder, is caused by mutations in the KCNJ2 gene. [1][2]
- The remaining 40 percent of cases are designated as type 2; the cause of the condition in these cases is unknown.
Classification
There is no established system for the classification of [disease name].
OR
[Disease name] may be classified according to [classification method] into [number] subtypes/groups:
- [Group1]
- [Group2]
- [Group3]
- [Group4]
OR
[Disease name] may be classified into [large number > 6] subtypes based on:
- [Classification method 1]
- [Classification method 2]
- [Classification method 3]
[Disease name] may be classified into several subtypes based on:
- [Classification method 1]
- [Classification method 2]
- [Classification method 3]
References
- ↑ Tristani-Firouzi M, Jensen JL, Donaldson MR; et al. (2002). "Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)". J. Clin. Invest. 110 (3): 381–8. PMID 12163457.
- ↑ Pegan S, Arrabit C, Slesinger PA, Choe S (2006). "Andersen's syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1". Biochemistry. 45 (28): 8599–606. doi:10.1021/bi060653d. PMID 16834334.