Details of Disease

General Information of Disease (ID: DISQR1H0)

Disease Name Congenital heart defects, multiple types, 6
Synonyms
transposition of the great arteries, dextro-looped 3; transposition of the great arteries, dextro-looped 3, formerly; CHTD6; dextro-looped transposition of the great arteries 3; dextro-looped transposition of the great arteries caused by mutation in GDF1; GDF1 dextro-looped transposition of the great arteries; DTGA3; dextro-looped transposition of the great arteries type 3; congenital heart defects, multiple types, 6; transposition of the great arteries, dextro-looped type 3
Definition Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene.
Disease Hierarchy
DISWZRYW: Congenital heart defects, multiple types
DISPDNDN: Dextro-looped transposition of the great arteries
DISQR1H0: Congenital heart defects, multiple types, 6
Disease Identifiers
MONDO ID
MONDO_0013463
UMLS CUI
C3151221
OMIM ID
613854
MedGen ID
462571

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
GDF1 OTZ1VRBH Definitive Autosomal recessive [1]
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References

1 Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). Hum Mol Genet. 2010 Jul 15;19(14):2747-53. doi: 10.1093/hmg/ddq164. Epub 2010 Apr 22.