Disease ID | Source | Name | Description |
617205 | OMIM | Heterotaxy, visceral, 8, autosomal (HTX8) | A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX8 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |