Top ▲

Andersen-Tawil syndrome

Disease ID:67
Name:Andersen-Tawil syndrome
Associated with:1 target
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

Show »

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, CanĂșn S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R et al.. (2001) Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell, 105 (4): 511-9. [PMID:11371347]