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
NB: Heterozygous mutations in genes account for less than 3% of sporadic heterotaxia
See also
nodal signaling
Types
anomalies of cardiac situs
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
non-syndromal heterotaxia
Case records
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