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GTR Home > Conditions/Phenotypes > Heterotaxy, visceral, 8, autosomal

Heterotaxy, visceral, 8, autosomal

Summary

Autosomal visceral heterotaxy-8 (HTX8) is an autosomal recessive developmental disorder characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs (summary by Vetrini et al., 2016). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). [from OMIM]

Available tests

19 tests are in the database for this condition.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HTX8, PRO19563, PKD1L1
    Summary: polycystin 1 like 1, transient receptor potential channel interacting

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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