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Visceral heterotaxy 5, autosomal

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Description

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 genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

73

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Genes

External Links

  • OMIM

    270100

  • Orphanet
  • HPO
  • Medgen

    C3495537

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