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GTR Home > Conditions/Phenotypes > Heterotaxy, visceral, 4, autosomal

Heterotaxy, visceral, 4, autosomal

Synonyms
ACVR2B-Related Visceral Heterotaxy

Summary

Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by 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 (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). [from OMIM]

Available tests

33 tests are in the database for this condition.

Clinical tests (33 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACTRIIB, ActR-IIB, HTX4, ACVR2B
    Summary: activin A receptor type 2B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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