Details of Disease | DrugMAP

General Information of Disease (ID: DIS3C964)

Disease Name	Sinoatrial node dysfunction and deafness
Synonyms	SANDD; sinoatrial node dysfunction and deafness
Definition	Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.
Disease Hierarchy	DISMT2VZ: Cardiogenetic disease DIS1W8PP: Tachyarrhythmias DIS3C964: Sinoatrial node dysfunction and deafness
Disease Identifiers	MONDO ID MONDO_0013960 UMLS CUI C3554018 OMIM ID 614896 MedGen ID 766932 Orphanet ID 324321 SNOMED CT ID 770784003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CACNA1D	TT7RGTM	moderate	Genetic Variation	[1]
CACNA1D	TT7RGTM	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CACNA1D	OTQFH2ZD	Strong	Autosomal recessive	[2]
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References

1	Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.J Hum Genet. 2019 Feb;64(2):153-160. doi: 10.1038/s10038-018-0542-8. Epub 2018 Nov 30.
2	Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nat Neurosci. 2011 Jan;14(1):77-84. doi: 10.1038/nn.2694. Epub 2010 Dec 5.