heterotaxy, visceral, 2, autosomal

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heterotaxy, visceral, 2, autosomal

A complex disorder (OMIM:605376) caused by disruption of the normal left-right asymmetry of the thoracoabdominal organs, resulting in an abnormal arrangement of visceral organs and an array of congenital defects, including cardiac malformations and situs inversus or situs ambiguus.

Molecular pathology
Caused by defects of CFC1, which encodes a member of the epidermal growth factor Cripto, Frl-1, Cryptic (CFC family), which are involved in signalling during embryonic development.