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Trait
Aortic arch aneurysm
An abnormal localized widening (dilatation) of the aortic arch.
Summary
- Body system
- Abnormality of the cardiovascular system
Aortic arch aneurysmHP:0005113
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Read the genes linked to Aortic arch aneurysm, and the rest of your genome, with one test.
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Get my Genome Test43 genes linked to Aortic arch aneurysm
Changes in these genes cause rare conditions in which Aortic arch aneurysm 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 |
|---|---|---|
| THBS2thrombospondin 2 | Always | In 1 condition |
| ACTA2actin alpha 2, smooth muscle | Often (30–79%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Often (30–79%) | In 1 condition |
| GATA5GATA binding protein 5 | Often (30–79%) | In 1 condition |
| NKX2-5NK2 homeobox 5 | Often (30–79%) | In 1 condition |
| NOTCH1notch receptor 1 | Often (30–79%) | In 1 condition |
| ROBO4roundabout guidance receptor 4 | Often (30–79%) | In 1 condition |
| SEMA3Esemaphorin 3E | Often (30–79%) | In 1 condition |
| SMAD6SMAD family member 6 | Often (30–79%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sometimes (5–29%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| CASZ1castor zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Sometimes (5–29%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sometimes (5–29%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Sometimes (5–29%) | In 1 condition |
| ELNelastin | Sometimes (5–29%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sometimes (5–29%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sometimes (5–29%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Sometimes (5–29%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Sometimes (5–29%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Sometimes (5–29%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Sometimes (5–29%) | In 1 condition |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Sometimes (5–29%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Sometimes (5–29%) | In 1 condition |
| LOXlysyl oxidase | Sometimes (5–29%) | In 1 condition |
| LUZP1leucine zipper protein 1 | Sometimes (5–29%) | In 1 condition |
| METTL27methyltransferase like 27 | Sometimes (5–29%) | In 1 condition |
| MMP23Bmatrix metallopeptidase 23B | Sometimes (5–29%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Sometimes (5–29%) | In 1 condition |
| PDPNpodoplanin | Sometimes (5–29%) | In 1 condition |
| PRDM16PR/SET domain 16 | Sometimes (5–29%) | In 1 condition |
| PRKCZprotein kinase C zeta | Sometimes (5–29%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Sometimes (5–29%) | In 1 condition |
| RFC2replication factor C subunit 2 | Sometimes (5–29%) | In 1 condition |
| SKISKI proto-oncogene | Sometimes (5–29%) | In 1 condition |
| SPENspen family transcriptional repressor | Sometimes (5–29%) | In 1 condition |
| STX1Asyntaxin 1A | Sometimes (5–29%) | In 1 condition |
| TBL2transducin beta like 2 | Sometimes (5–29%) | In 1 condition |
| TMEM270transmembrane protein 270 | Sometimes (5–29%) | In 1 condition |
| UBE4Bubiquitination factor E4B | Sometimes (5–29%) | In 1 condition |
Show 3 more genes
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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