Trait
Bulge in wall of large artery that carries blood away from heart
Clinical name: Aortic aneurysm
Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.
Summary
- Also called
- Enlarged aorta
- Body system
- Abnormality of the cardiovascular system
Reference genomeGRCh38hg38
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Read the genes linked to Bulge in wall of large artery that carries blood away from heart, and the rest of your genome, with one test.
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Get my Genome Test66 genes linked to Bulge in wall of large artery that carries blood away from heart
Changes in these genes cause rare conditions in which Bulge in wall of large artery that carries blood away from heart 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 |
|---|---|---|
| FBN1fibrillin 1 | Always | In 1 condition |
| POLR1ARNA polymerase I subunit A | Always | In 1 condition |
| TAF4TATA-box binding protein associated factor 4 | Always | In 1 condition |
| TNNT2troponin T2, cardiac type | Always | In 1 condition |
| IPO8importin 8 | Very often (80–99%) | In 1 condition |
| SLC2A10solute carrier family 2 member 10 | Very often (80–99%) | In 1 condition |
| SMAD2SMAD family member 2 | Very often (80–99%) | In 1 condition |
| SMAD3SMAD family member 3 | Very often (80–99%) | In 2 conditions |
| TGFB2transforming growth factor beta 2 | Very often (80–99%) | In 1 condition |
| TGFB3transforming growth factor beta 3 | Very often (80–99%) | In 1 condition |
| TGFBR1transforming growth factor beta receptor 1 | Very often (80–99%) | In 1 condition |
| TGFBR2transforming growth factor beta receptor 2 | Very often (80–99%) | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Often (30–79%) | In 1 condition |
| DPH5diphthamide biosynthesis 5 | Often (30–79%) | In 1 condition |
| ELNelastin | Often (30–79%) | In 1 condition |
| FBLN5fibulin 5 | Often (30–79%) | In 1 condition |
| NOTCH3notch receptor 3 | Often (30–79%) | In 1 condition |
| RIN2Ras and Rab interactor 2 | Often (30–79%) | In 2 conditions |
| SLC25A24solute carrier family 25 member 24 | Often (30–79%) | In 1 condition |
| TAB2TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | Often (30–79%) | In 1 condition |
| APC2APC regulator of Wnt signaling pathway 2 | Sometimes (5–29%) | In 1 condition |
| ARF1ARF GTPase 1 | Sometimes (5–29%) | In 1 condition |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Sometimes (5–29%) | In 1 condition |
| BCRBCR activator of RhoGEF and GTPase | Sometimes (5–29%) | In 1 condition |
| CHRNGcholinergic receptor nicotinic gamma subunit | Sometimes (5–29%) | In 1 condition |
| COL3A1collagen type III alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| CRKLCRK like proto-oncogene, adaptor protein | Sometimes (5–29%) | In 1 condition |
| ERMARDER membrane associated RNA degradation | Sometimes (5–29%) | In 1 condition |
| FBN2fibrillin 2 | Sometimes (5–29%) | In 1 condition |
| FBXO11F-box protein 11 | Sometimes (5–29%) | In 1 condition |
| FLNAfilamin A | Sometimes (5–29%) | In 1 condition |
| HGDhomogentisate 1,2-dioxygenase | Sometimes (5–29%) | In 2 conditions |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sometimes (5–29%) | In 2 conditions |
| MAP1Bmicrotubule associated protein 1B | Sometimes (5–29%) | In 1 condition |
| MAPK1mitogen-activated protein kinase 1 | Sometimes (5–29%) | In 1 condition |
| MED12mediator complex subunit 12 | Sometimes (5–29%) | In 1 condition |
| MYH3myosin heavy chain 3 | Sometimes (5–29%) | In 1 condition |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Sometimes (5–29%) | In 1 condition |
| NOD2nucleotide binding oligomerization domain containing 2 | Sometimes (5–29%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Sometimes (5–29%) | In 1 condition |
Show 26 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Sometimes (5–29%) | In 1 condition |
| PTENphosphatase and tensin homolog | Sometimes (5–29%) | In 1 condition |
| RAI1retinoic acid induced 1 | Sometimes (5–29%) | In 1 condition |
| SKISKI proto-oncogene | Sometimes (5–29%) | In 1 condition |
| SMAD6SMAD family member 6 | Sometimes (5–29%) | In 1 condition |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Sometimes (5–29%) | In 1 condition |
| TNXBtenascin XB | Sometimes (5–29%) | In 1 condition |
| ADARadenosine deaminase RNA specific | Rarely (1–4%) | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Rarely (1–4%) | In 1 condition |
| IFNGinterferon gamma | Rarely (1–4%) | In 1 condition |
| LSM11LSM11, U7 small nuclear RNA associated | Rarely (1–4%) | In 1 condition |
| RNASEH2Aribonuclease H2 subunit A | Rarely (1–4%) | In 1 condition |
| RNASEH2Bribonuclease H2 subunit B | Rarely (1–4%) | In 1 condition |
| RNASEH2Cribonuclease H2 subunit C | Rarely (1–4%) | In 1 condition |
| RNU7-1RNA, U7 small nuclear 1 | Rarely (1–4%) | In 1 condition |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| TREX1three prime repair exonuclease 1 | Rarely (1–4%) | In 1 condition |
| TSC1TSC complex subunit 1 | Rarely (1–4%) | In 1 condition |
| TSC2TSC complex subunit 2 | Rarely (1–4%) | In 1 condition |
| ACTA2actin alpha 2, smooth muscle | Not recorded | In 1 condition |
| C12orf57chromosome 12 open reading frame 57 | Not recorded | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Not recorded | In 1 condition |
| FLNBfilamin B | Not recorded | In 1 condition |
| FOXE3forkhead box E3 | Not recorded | In 1 condition |
| MYLKmyosin light chain kinase | 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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