visceral heterotaxy
Findings
No curated finding names visceral heterotaxy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, 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:0018677), read 2026-09-29. CC BY 4.0.
Genes
6 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.
- HGNC:53647HGNC:53647
- Strong · PanelApp Australia · Autosomal recessive · 2025
- BCL9LHGNC:23688
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- DAW1HGNC:26383
- Moderate · ClinGen · Autosomal recessive · 2024
- CFAP52HGNC:16053
- Limited · Ambry Genetics · Autosomal recessive · 2018
- CIROZHGNC:26730
- Limited · Ambry Genetics · Autosomal recessive · 2025
- LEFTY2HGNC:3122
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- Narrower terms (19)
- dextrocardia
- heterotaxy, visceral, 1, X-linked
- heterotaxy, visceral, 10, autosomal, with male infertility
- heterotaxy, visceral, 11, autosomal, with male infertility
- heterotaxy, visceral, 12, autosomal
- heterotaxy, visceral, 13, autosomal
- heterotaxy, visceral, 14, autosomal
- heterotaxy, visceral, 2, autosomal
- heterotaxy, visceral, 3, autosomal
- heterotaxy, visceral, 4, autosomal
- heterotaxy, visceral, 5, autosomal
- heterotaxy, visceral, 6, autosomal
- heterotaxy, visceral, 7, autosomal
- heterotaxy, visceral, 8, autosomal
- heterotaxy, visceral, 9, autosomal, with male infertility
- laterality defects, autosomal dominant
- levocardia
- right atrial isomerism
Other names
9 names
Resolves to: visceral heterotaxy
- Also called
- heterotaxiaheterotaxia syndromeheterotaxy syndromeheterotaxy, visceralincomplete situs inversuslateralization defectpartial situs inversussitus ambiguoussitus ambiguus