Trait
Underdeveloped aortic arch
Clinical name: Hypoplastic aortic arch
Underdevelopment of the arch of aorta.
Summary
- Also called
- Aortic arch hypoplasia
- Body system
- Abnormality of the cardiovascular system
Reference genomeGRCh38hg38
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Get my Genome Test15 genes linked to Underdeveloped aortic arch
Changes in these genes cause rare conditions in which Underdeveloped 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 |
|---|---|---|
| CCT3chaperonin containing TCP1 subunit 3 | Always | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Always | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| GJA1gap junction protein alpha 1 | Often (30–79%) | In 1 condition |
| NKX2-5NK2 homeobox 5 | Often (30–79%) | In 1 condition |
| ZIC3Zic family zinc finger 3 | Often (30–79%) | In 1 condition |
| BCORBCL6 corepressor | Sometimes (5–29%) | In 1 condition |
| CIROPciliated left-right organizer metallopeptidase | Sometimes (5–29%) | In 1 condition |
| CIROZciliated left-right organizer protein containing ZP-N domains | Sometimes (5–29%) | In 1 condition |
| FOXF1forkhead box F1 | Sometimes (5–29%) | In 1 condition |
| GNB2G protein subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Sometimes (5–29%) | In 1 condition |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Sometimes (5–29%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Sometimes (5–29%) | In 1 condition |
| SCAF4SR-related CTD associated factor 4 | 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.
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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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