Trait
Interrupted aortic arch
Non-continuity of the arch of aorta with an atretic point or absent segment.
Summary
- Also called
- Atretic transverse aortic arch
- Body system
- Abnormality of the cardiovascular system
Reference genomeGRCh38hg38
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Get my Genome Test22 genes linked to Interrupted aortic arch
Changes in these genes cause rare conditions in which Interrupted aortic arch 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 |
|---|---|---|
| CHD7chromodomain helicase DNA binding protein 7 | Often (30–79%) | In 1 condition |
| MYRFmyelin regulatory factor | Often (30–79%) | In 1 condition |
| SEMA3Esemaphorin 3E | Often (30–79%) | In 1 condition |
| SMG9SMG9 nonsense mediated mRNA decay factor | Often (30–79%) | In 1 condition |
| DGCR2DiGeorge syndrome critical region gene 2 | Sometimes (5–29%) | In 1 condition |
| DGCR6DiGeorge syndrome critical region gene 6 | Sometimes (5–29%) | In 1 condition |
| DGCR8DGCR8 microprocessor complex subunit | Sometimes (5–29%) | In 1 condition |
| ESS2ess-2 spliceosome associated protein | Sometimes (5–29%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Sometimes (5–29%) | In 1 condition |
| FRYLFRY like transcription coactivator | Sometimes (5–29%) | In 1 condition |
| GATA6GATA binding protein 6 | Sometimes (5–29%) | In 2 conditions |
| KRASKRas proto-oncogene, GTPase | Sometimes (5–29%) | In 1 condition |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Sometimes (5–29%) | In 2 conditions |
| PLXND1plexin D1 | Sometimes (5–29%) | In 1 condition |
| TBX1T-box transcription factor 1 | Sometimes (5–29%) | In 3 conditions |
| TMEM260transmembrane protein 260 | Sometimes (5–29%) | In 1 condition |
| FOXF1forkhead box F1 | Rarely (1–4%) | In 1 condition |
| KDM6Alysine demethylase 6A | Rarely (1–4%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Rarely (1–4%) | In 1 condition |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Rarely (1–4%) | In 1 condition |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Not recorded | In 1 condition |
| MMP21matrix metallopeptidase 21 | Not recorded | 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.
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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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