Details of Disease

General Information of Disease (ID: DISXT6WF)

• Disease Name: Atrial septal defect 7
• Synonyms: ASD7; atrial septal defect 7 with or without atrioventricular conduction defects; NKX2-5 atrial heart septal defect; atrial heart septal defect type 7; atrial septal defect 7, with or without AV conduction defects; atrial heart septal defect caused by mutation in NKX2-5; atrial septal defect-atrioventricular conduction defects syndrome; ASD with or without atrioventricular conduction defects
• Definition: Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.
• Disease Hierarchy:
  DISJT76B: Atrial septal defect
  DISXT6WF: Atrial septal defect 7
• Disease Identifiers:
  MONDO ID: MONDO_0007173
  UMLS CUI: C3276096
  OMIM ID: 108900
  MedGen ID: 477726
  Orphanet ID: 1479

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NKX2-5	OTS1SAWM	Definitive	Autosomal dominant	[1]

References

• [1] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.