autosomal visceral heterotaxy
MIM.605376 Chr.2
Synopsis
atrioventricular septal defect
mesocardia
left atrial isomerism
abdominal situs inversus (situs inversum viscerum, visceral heterotaxy)
- right abdominal aorta
- left inferior vena cava
- left liver
- right stomach
- right spleen
- intestinal malrotation
Etiology
Ch.2: germline mutation in CFC1 gene encoding the CRYPTIC protein, on chromosome 2 (MIM.605194)
6q: Locus HTX3 (MIM.606325)
See also
situs inversus
X-linked visceral heterotaxy