Sinoatrial node dysfunction and deafness; SANDD

Disease ID:863
Name:Sinoatrial node dysfunction and deafness; SANDD
Associated with:1 target
Database Links
OMIM: 614896
Orphanet: ORPHA324321

Targets

Cav1.3
Role:  Sinoatrial node bradycardia and arrhythmia, deafness. Autoimmune-associated sinus bradycardia is mediated by autoantibodies against Cav1.3.
References:  1-2
Mutations:  Cav1.3 is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Sinoatrial node dysfunction and deafness; SANDD

References

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1. Baig SM, Koschak A, Lieb A, Gebhart M, Dafinger C, Nürnberg G, Ali A, Ahmad I, Sinnegger-Brauns MJ, Brandt N et al.. (2011) Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nat. Neurosci., 14 (1): 77-84. [PMID:21131953]

2. Qu Y, Baroudi G, Yue Y, Boutjdir M. (2005) Novel molecular mechanism involving alpha1D (Cav1.3) L-type calcium channel in autoimmune-associated sinus bradycardia. Circulation, 111 (23): 3034-41. [PMID:15939813]