Details of Disease

General Information of Disease (ID: DISDU9K4)

Disease Name Atrioventricular septal defect 5
Synonyms AVSD5; atrioventricular septal defect caused by mutation in GATA6; atrioventricular septal defect type 5; atrioventricular septal defect 5; GATA6 atrioventricular septal defect
Definition Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.
Disease Hierarchy
DISZB39O: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes
DIS0VY1Z: Familial atrioventricular septal defect
DISDU9K4: Atrioventricular septal defect 5
Disease Identifiers
MONDO ID
MONDO_0013769
UMLS CUI
C3280939
OMIM ID
614474
MedGen ID
482569

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
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 Identification of GATA6 sequence variants in patients with congenital heart defects. Pediatr Res. 2010 Oct;68(4):281-5. doi: 10.1203/PDR.0b013e3181ed17e4.