Sick sinus syndrome 1, autosomal recessive

General Information (adopted from Orphanet):

Synonyms, Signs: SINUS RHYTHM, CONGENITAL ABSENCE OF
SICK SINUS SYNDROME, CONGENITAL
SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE
SINUS BRADYCARDIA SYNDROME, FAMILIAL
SSS1
Number of Symptoms 0
OrphanetNr:
OMIM Id: 608567
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Familial sick sinus syndrome
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Sick sinus syndrome 1 is a sub-type of familial sick sinus syndrome. For symptom annotation please refer to familial sick sinus syndrome.

Symptom Information: Sort by abundance 

Associated genes:

SCN5A;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
SCN5A rs137854612 pathogenic RCV000009995.2
SCN5A rs137854613 pathogenic RCV000009968.2
SCN5A rs28937319 pathogenic RCV000009994.2
SCN5A rs45620037 pathogenic RCV000009998.2

Additional Information:

Description: (OMIM) The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of ...
Clinical Description OMIM Ward et al. (1984) described a brother and sister, aged 15 months and 3.5 years, respectively, with atrial standstill and inexcitability. Autopsy in the boy showed endocardial fibroelastosis of atria and ventricles.

Benson et al. (2003) ...
Molecular genetics OMIM In 5 affected children from 3 kindreds with congenital SSS, Benson et al. (2003) identified compound heterozygosity for 6 distinct mutations in the SCN5A gene (e.g., 600163.0025). Heterozygous mutation carriers were asymptomatic, but some showed subclinical evidence of ...