Trait
Partial atrioventricular canal defect
A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices.
Summary
- Also called
- Incomplete atrioventricular septal defect, Incomplete AVSD, Partial atrioventricular septal defect, Partial AVC defect, Partial AVSD, PAVSD
- Body system
- Abnormality of the cardiovascular system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test6 genes linked to Partial atrioventricular canal defect
Changes in these genes cause rare conditions in which Partial atrioventricular canal defect is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| CRELD1CRELD disulfide isomerase 1 | Always | In 1 condition |
| GCSHglycine cleavage system protein H | Always | In 1 condition |
| IFT27intraflagellar transport 27 | Always | In 1 condition |
| POLR1ARNA polymerase I subunit A | Always | In 1 condition |
| CFAP45cilia and flagella associated protein 45 | Often (30–79%) | In 1 condition |
| DOHHdeoxyhypusine hydroxylase | Sometimes (5–29%) | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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