Sick sinus syndrome 1

Preferred Label : Sick sinus syndrome 1;

Symbol : SSS1;

CISMeF acronym : SSS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sinus rhythm, congenital absence of; Sinus bradycardia syndrome, familial; Sinus node disease, familial, autosomal recessive; Sick sinus syndrome, congenital;

Description : 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 atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors, in which case it is considered to be a congenital disorder (Benson et al., 2003). - Genetic Heterogeneity In addition to the familial autosomal recessive form (SSS1), an autosomal dominant form of sick sinus syndrome (SSS2; 163800) is caused by mutation in the HCN4 gene (605206). Susceptibility to sick sinus syndrome (SSS3; 614090) is influenced by variation in the MYH6 gene (160710).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sodium channel, voltage-gated, type V, alpha polypeptide gene (SCN5A, 600163.0025);

Prefixed ID : #608567;

Détails

Origin ID

608567;

UMLS CUI

C1837845;

Automatic exact mappings (from CISMeF team)
- SCN5A wt Allele [NCIt concept]
- SEC61 translocon subunit gamma [HGNC gene]
- sodium voltage-gated channel alpha subunit 5 [ORDO Gene]
- sodium voltage-gated channel alpha subunit 5 [HGNC gene]
Broader ORDO disease(s)
- Familial sick sinus syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal recessive sick sinus syndrome (disorder) [SNOMED CT concept]
- sick sinus syndrome 1, autosomal recessive [MeSH concept]
- sick sinus syndrome 1, autosomal recessive [MeSH Supplementary Concept]
- sick sinus syndrome type 1 [Disease (Nov.)]
DO Cross reference
- sick sinus syndrome [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 5 [OMIM gene]
HPO term(s)
- Absent P wave [HPO term]
- Atrioventricular block [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Heart block [HPO term]
- Irregular heart beat [HPO term]
- Onset in utero [HPO term]
- Prolonged QT interval [HPO term]
- Sick sinus syndrome [HPO term]
- Sinus bradycardia [HPO term]
- Ventricular escape rhythm [HPO term]
ORDO concept(s)
- Familial sick sinus syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- sick sinus syndrome 1, autosomal recessive [MeSH Supplementary Concept]
- sick sinus syndrome 1, autosomal recessive [MeSH concept]
- sick sinus syndrome type 1 [Disease (Nov.)]

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