Details of Disease

General Information of Disease (ID: DISTNZ5D)

Disease Name Ventricular septal defect 1
Synonyms VSD1; ventricular septal defect type 1; ventricular septal defect 1; GATA4 ventricular septal defect (disease); ventricular septal defect (disease) caused by mutation in GATA4
Definition Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.
Disease Hierarchy
DISICO41: Ventricular septal defect
DISKENQD: Structural congenital heart disease, multiple types - GATA4
DISTNZ5D: Ventricular septal defect 1
Disease Identifiers
MONDO ID
MONDO_0013746
UMLS CUI
C3280777
OMIM ID
614429
MedGen ID
482407

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GATA4 TT1VDN2 Strong Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IRX4 OT0TV6WK Limited Autosomal dominant [2]
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References

1 A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect.Pediatr Cardiol. 2012 Apr;33(4):539-46. doi: 10.1007/s00246-011-0146-y. Epub 2011 Nov 20.
2 Two novel mutations of the IRX4 gene in patients with congenital heart disease. Hum Genet. 2011 Nov;130(5):657-62. doi: 10.1007/s00439-011-0996-7. Epub 2011 May 5.