heterotaxy, visceral, 8, autosomal
Findings
No curated finding names heterotaxy, visceral, 8, autosomal yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014967), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal situs inversusHPOHP:0003363
- 3 of 3 reported patients
- Hypoplastic left ventricleHPOHP:0004383
- 3 of 3 reported patients
- Ventricular septal defectHPOHP:0001629
- 3 of 3 reported patients
- Pulmonary artery atresiaHPOHP:0004935
- 2 of 3 reported patients
- Unbalanced atrioventricular canal defectHPOHP:0011579
- 2 of 3 reported patients
- DextrocardiaHPOHP:0001651
- 1 of 2 reported patients
- Aortopulmonary collateral arteriesHPO
Genes
1 gene
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:18053HGNC:18053
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
Where it sits
- A kind of
Other names
4 names
Resolves to: heterotaxy, visceral, 8, autosomal
- Also called
- heterotaxy, visceral, 8, autosomal; HTX8HTX8PKD1L1 visceral heterotaxyvisceral heterotaxy caused by mutation in PKD1L1