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heterotaxy, visceral, 4, autosomal

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene.
Uniprot Description 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 been associated with variety of congenital defects including cardiac malformations. HTX4 clinical features include dextrocardia, right aortic arch and a right-sided spleen, anomalies of the inferior and the superior vena cava, atrial ventricular canal defect with dextro-transposed great arteries, pulmonary stenosis, polysplenia and midline liver.
Mondo Term and Equivalent IDs
MONDO:0013403:  heterotaxy, visceral, 4, autosomal
UMLS:C3151057: