Details of Disease

General Information of Disease (ID: DISVOM8L)

Disease Name Sick sinus syndrome 1
Synonyms
sinus node disease, familial, autosomal recessive; sinus bradycardia syndrome, familial; sick sinus syndrome, congenital; SSS1; sinus rhythm, congenital absence of; sick sinus syndrome 1; SCN5A sick sinus syndrome; sick sinus syndrome caused by mutation in SCN5A
Definition Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene.
Disease Hierarchy
DISFVIMO: Familial sick sinus syndrome
DISVOM8L: Sick sinus syndrome 1
Disease Identifiers
MONDO ID
MONDO_0024562
MESH ID
C563907
UMLS CUI
C1837845
OMIM ID
608567
MedGen ID
325270

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SCN5A TTZOVE0 Limited Biomarker [1]
HCN4 TTQP04A Strong Biomarker [2]
SCN5A TTZOVE0 Strong Autosomal recessive [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SCN5A OTGYZWR6 Strong Autosomal recessive [3]
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References

1 Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation.Eur J Hum Genet. 2012 Nov;20(11):1189-92. doi: 10.1038/ejhg.2012.63. Epub 2012 Apr 11.
2 HCN4 pacemaker channels attenuate the parasympathetic response and stabilize the spontaneous firing of the sinoatrial node.J Physiol. 2018 Mar 1;596(5):809-825. doi: 10.1113/JP275303. Epub 2018 Feb 6.
3 Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities. Europace. 2007 Jun;9(6):391-7. doi: 10.1093/europace/eum053. Epub 2007 Apr 18.