Details of Disease

General Information of Disease (ID: DIS0UITQ)

• Disease Name: Sick sinus syndrome 2, autosomal dominant
• Synonyms: SSS2; sick sinus syndrome 2; Sss, autosomal dominant; sinus node disease, familial, autosomal dominant; sick sinus syndrome 2 with or without Cardiac noncompaction and/Or ascending aorta dilation; sinus bradycardia syndrome, familial, autosomal dominant; atrial fibrillation with Bradyarrhythmia; sick sinus syndrome 2, autosomal dominant; HCN4 sick sinus syndrome; sick sinus syndrome caused by mutation in HCN4
• Definition: Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene.
• Disease Hierarchy:
  DISFVIMO: Familial sick sinus syndrome
  DIS0UITQ: Sick sinus syndrome 2, autosomal dominant
• Disease Identifiers:
  MONDO ID: MONDO_0008102
  MESH ID: C563513
  UMLS CUI: C1834144
  OMIM ID: 163800
  MedGen ID: 320273

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Hyoscyamine	DM804UR	Approved	Small molecular drug	[1]

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	Limited	Biomarker	[2]
HCN4	TTQP04A	Strong	Autosomal dominant	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HCN4	OTPH3RRX	Strong	Autosomal dominant	[3]

References

• [1] A standard database for drug repositioning. Sci Data. 2017 Mar 14;4:170029.
• [2] Genetics of Brugada syndrome.J Arrhythm. 2016 Oct;32(5):418-425. doi: 10.1016/j.joa.2016.07.012. Epub 2016 Sep 12.
• [3] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.