Andersen-Tawil syndrome

Disease ID:67
Name:Andersen-Tawil syndrome
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Synonyms
Andersen cardiodysrhythmic periodic paralysis | Andersen's syndrome | Andersen syndrome | Cardiodysrhythmic potassium-sensitive periodic paralysis
Database Links
Disease Ontology: DOID:0050434
OMIM: 170390
Orphanet: ORPHA37553

Targets

Kir2.1
Role:  Disruption of the flow of potassium ions in skeletal and cardiac muscle.
Comments:  Characteristics of Andersen-Tawil syndrome are periodic paralysis, cardiac arrhythmia and developmental abnormalities.
References:  1-2
Mutations:  Kir2.1 is associated with 9 mutation. Click here for details

Ligands

No ligand related data available for Andersen-Tawil syndrome

References

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1. Ma D, Tang XD, Rogers TB, Welling PA. (2007) An andersen-Tawil syndrome mutation in Kir2.1 (V302M) alters the G-loop cytoplasmic K+ conduction pathway. J. Biol. Chem., 282 (8): 5781-9. [PMID:17166852]

2. Plaster NM, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptácek LJ. (2001) Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell, 105 (4): 511-9. [PMID:11371347]