Heterotaxy, visceral, X-linked [Supplementary Concept]
A clinically and genetically heterogeneous developmental condition where visceral organs (heart, lungs, liver, spleen, and stomach) are oriented randomly with respect to each other and the left-right axis. CONGENITAL HEART DEFECTS and ARRYTHMIAS are common in affected individuals. The X-linked form is caused by mutations in the ZIC3 gene (OMIM: 306955). The autosomal 5 form is dominant and is caused by mutations in the NODAL gene. OMIM: 270100
Date introduced: August 25, 2010
MeSH Unique ID: C538116
Heading Mapped to:
Entry Terms:
- Heterotaxy, Visceral, 1, X-Linked
- Situs inversus, complex cardiac defects, and splenic defects, X-linked
- Visceral heterotaxia
- Dextrocardia with other cardiac malformations
- Laterality, X-linked
- Heterotaxy, Visceral, 5, Autosomal