Details of Disease

General Information of Disease (ID: DISFVIMO)

• Disease Name: Familial sick sinus syndrome
• Synonyms: sick sinus syndrome 1, autosomal recessive; SSS1; hereditary sick sinus syndrome; familial sinus node dysfunction
• Definition: Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.
• Disease Hierarchy:
  DISMT2VZ: Cardiogenetic disease
  DIS5AOLK: Sick sinus syndrome
  DISFVIMO: Familial sick sinus syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0012061
  UMLS CUI: C0340491
  MedGen ID: 573766
  Orphanet ID: 166282
  SNOMED CT ID: 233913007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HCN4	TTQP04A	Supportive	Autosomal dominant	[1]
SCN5A	TTZOVE0	Supportive	Autosomal dominant	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HCN4	OTPH3RRX	Supportive	Autosomal dominant	[1]
SCN5A	OTGYZWR6	Supportive	Autosomal dominant	[1]

References

• [1] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.