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Heterotaxy, visceral, X-linked MeSH Supplementary Concept Data 2023


MeSH Supplementary
Heterotaxy, visceral, X-linked
Unique ID
C538116
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C538116
Entry Term(s)
Dextrocardia with other cardiac malformations
Heterotaxy, Visceral, 1, X-Linked
Heterotaxy, Visceral, 5, Autosomal
Laterality, X-linked
Situs inversus, complex cardiac defects, and splenic defects, X-linked
Visceral heterotaxia
Registry Number
0
Heading Mapped to
*Dextrocardia
*Genetic Diseases, X-Linked
*Heterotaxy Syndrome
Frequency
57
Note
A clinically and genetically heterogeneous developmental condition where visceral organs (heart, lungs, liver, spleen, and stomach) are oriented randomly with respect to each other and the left-right axis. CONGENITAL HEART DEFECTS and ARRYTHMIAS are common in affected individuals. The X-linked form is caused by mutations in the ZIC3 gene (OMIM: 306955). The autosomal 5 form is dominant and is caused by mutations in the NODAL gene. OMIM: 270100
Date of Entry
2010/08/25
Revision Date
2015/08/18
Heterotaxy, visceral, X-linked Preferred
Heterotaxy, Visceral, 5, Autosomal Narrower
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