Details of Disease

General Information of Disease (ID: DISZB39O)

• Disease Name: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes
• Synonyms: GATA6 related congenital heart disease with or without pancreatic agenesis or neonatal diabetes
• Definition: A congenital heart disease that is present at birth. Representative examples include atrial septal defect 9, conotruncal heart malformations, tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, bicuspid aortic valve, transposition of the great arteries, persistent truncus arteriosus, congenital heart disease with pancreatic agenesis, and congenital heart disease with neonatal diabetes.
• Disease Hierarchy:
  DISMT2VZ: Cardiogenetic disease
  DISQBA23: Congenital heart disease
  DISZB39O: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes

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
GATA6	OTO2BC0F	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.