congenital heart disease with heterotaxy syndrome
Findings
No curated finding names congenital heart disease with heterotaxy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A heart disease that is present at birth that occurs with variable extracardiac laterality defects. Features of visceral heterotaxy are not always present but can include abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.
Definition from the Mondo Disease Ontology (MONDO:1060197), read 2026-09-29. CC BY 4.0.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of