Andersen-Tawil syndrome classification: Difference between revisions
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!'''Gene involved''' | !'''Gene involved''' | ||
!'''Protein involved''' | !'''Protein involved''' | ||
!'''Location''' | |||
!'''Inheritance pattern''' | |||
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|Andersen–Tawil syndrome (ATS) 1 | |Andersen–Tawil syndrome (ATS) 1 | ||
|KCNJ2 gene | |KCNJ2 gene | ||
|Kir2.1 inward rectifier potassium channel | |Kir2.1 inward rectifier potassium channel | ||
|17q24.3 | |||
|[[Autosomal dominant]] | |||
|- | |- | ||
|Andersen–Tawil syndrome (ATS) 2 | |Andersen–Tawil syndrome (ATS) 2 | ||
|Unknown gene defect | |Unknown gene defect | ||
|Kir2.1 inward rectifier potassium channel | |Kir2.1 inward rectifier potassium channel | ||
|17q24.3 | |||
|[[Autosomal dominant]] | |||
|} | |} | ||
[Disease name] may be classified into [large number > 6] subtypes based on: | [Disease name] may be classified into [large number > 6] subtypes based on: | ||
Revision as of 17:22, 28 January 2020
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Andersen-Tawil syndrome Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Andersen-Tawil syndrome classification On the Web |
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Risk calculators and risk factors for Andersen-Tawil syndrome classification |
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
Andersen–Tawil syndrome may be classified according to genetic mutations into two groups:[3]
| Type | Gene involved | Protein involved | Location | Inheritance pattern |
|---|---|---|---|---|
| Andersen–Tawil syndrome (ATS) 1 | KCNJ2 gene | Kir2.1 inward rectifier potassium channel | 17q24.3 | Autosomal dominant |
| Andersen–Tawil syndrome (ATS) 2 | Unknown gene defect | Kir2.1 inward rectifier potassium channel | 17q24.3 | Autosomal dominant |
[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.
- ↑ Nguyen HL, Pieper GH, Wilders R (2013). "Andersen-Tawil syndrome: clinical and molecular aspects". Int J Cardiol. 170 (1): 1–16. doi:10.1016/j.ijcard.2013.10.010. PMID 24383070.