Sinoatrial node dysfunction and deafness (SANDD) is a genetic disease characterized by a low heart beat and severe-to-profound deafness. A mutation of CACNA1D, encoding the Cav1.3 protein, has been identified in families with SANDD.
Category
Cardiovascular disease; Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
10 Diseases of the ear or mastoid process
Disorders with hearing impairment
AB50 Congenital hearing impairment
H02636 Sinoatrial node dysfunction and deafness
11 Diseases of the circulatory system
Cardiac arrhythmia
Supraventricular rhythm disturbance
BC80 Supraventricular bradyarrhythmia
H02636 Sinoatrial node dysfunction and deafness
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06528 Calcium signaling
H02636 Sinoatrial node dysfunction and deafness
Liaqat K, Schrauwen I, Raza SI, Lee K, Hussain S, Chakchouk I, Nasir A, Acharya A, Abbe I, Umair M, Ansar M, Ullah I, Shah K, Bamshad MJ, Nickerson DA, Ahmad W, Leal SM
Title
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.
Baig SM, Koschak A, Lieb A, Gebhart M, Dafinger C, Nurnberg G, Ali A, Ahmad I, Sinnegger-Brauns MJ, Brandt N, Engel J, Mangoni ME, Farooq M, Khan HU, Nurnberg P, Striessnig J, Bolz HJ
Title
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.