DISEASES

Disease-gene associations mined from literature

Human genes for right atrial isomerism

Right atrial isomerism [DOID:0060856]

A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12.

Synonyms:  right atrial isomerism,  DOID:0060856,  right atrial isomerisms,  asplenia with cardiovascular anomalies,  Ivemark syndrome ...