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heterotaxy

MIM.606325

Tuesday 11 November 2003

Heterotaxia (MIM.606325) is a group of congenital disorders characterized by a misplacement of one or more organs according to the left–right axis. It occurs in 1/10000 newborns and is often accompanied by severe organ malformations.

Types

- situs inversus (or situs inversus totalis)
- situs ambiguus
- isomerisms (cardiac isomerism, visceral isomerism)

Etiology

- germline mutations

  • INVS
  • DNAHI1
  • DNAH5
  • ZIC3
  • ACVR2B
  • LEFTYA
  • CFC1
  • NODAL
  • FOXA2

NB: Heterozygous mutations in genes account for less than 3% of sporadic heterotaxia

See also

- nodal signaling

Types

- anomalies of cardiac situs

  • dextrocardia

- anomalies of pulmonary asymetry
- visceral heterotaxy (visceral situs inversus)

  • X-linked visceral heterotaxy
    • Locus HTX1 (ZIC3 mutations)
  • autosomal visceral heterotaxy
    • HTX2 on Ch.2: mutations of gene CFC1 encoding the CRYPTIC protein (MIM.605194)
    • HTX3 on 6q (MIM.606325)

- visceroatrial heterotaxy (Ivemark syndrome) (MIM.208530)

Associations

- syndromal heterotaxia

  • Kartagener syndrome

- non-syndromal heterotaxia

Case records

- Case #10300

References

- Levin M. Left-right asymmetry in embryonic development: a comprehensive review. Mech Dev. 2005 Jan;122(1):3-25. PMID: 15582774

- Afzelius BA. Cilia-related diseases. J Pathol. 2004 Nov;204(4):470-7. PMID: 15495266

- Ibanez-Tallon I, Heintz N, Omran H. To beat or not to beat: roles of cilia in development and disease. Hum Mol Genet. 2003 Apr 2;12(Suppl 1):R27-35. PMID: 12668594

- El Zein L, Omran H, Bouvagnet P. Lateralization defects and ciliary dyskinesia: lessons from algae. Trends Genet. 2003 Mar;19(3):162-7. PMID: 12615011

- Aylsworth AS. Clinical aspects of defects in the determination of laterality. Am J Med Genet. 2001 Jul 15;101(4):345-55. PMID: 11471158

Portfolio

  • Medial liver in situs ambiguus
  • Medial liver, right-sided spleen and stomach in situs ambiguus