Trait
Bulge in wall of root of large artery that carries blood away from heart
Clinical name: Aortic root aneurysm
An abnormal localized widening (dilatation) of the aortic root.
Summary
- Also called
- Enlarged aortic root, Increased aortic root diameter
- Body system
- Abnormality of the cardiovascular system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Bulge in wall of root 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 Test76 genes linked to Bulge in wall of root of large artery that carries blood away from heart
Changes in these genes cause rare conditions in which Bulge in wall of root 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 |
|---|---|---|
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Always | In 2 conditions |
| FBN1fibrillin 1 | Always | In 4 conditions |
| KLHL20kelch like family member 20 | Always | In 1 condition |
| LOXlysyl oxidase | Always | In 2 conditions |
| TGFB3transforming growth factor beta 3 | Always | In 2 conditions |
| BGNbiglycan | Very often (80–99%) | In 1 condition |
| IPO8importin 8 | Very often (80–99%) | In 1 condition |
| LMNAlamin A/C | Very often (80–99%) | In 1 condition |
| ROBO4roundabout guidance receptor 4 | Very often (80–99%) | In 1 condition |
| SLC2A10solute carrier family 2 member 10 | Very often (80–99%) | In 2 conditions |
| TGFB2transforming growth factor beta 2 | Very often (80–99%) | In 2 conditions |
| TGFBR1transforming growth factor beta receptor 1 | Very often (80–99%) | In 2 conditions |
| TGFBR2transforming growth factor beta receptor 2 | Very often (80–99%) | In 2 conditions |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Often (30–79%) | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Often (30–79%) | In 2 conditions |
| COL1A2collagen type I alpha 2 chain | Often (30–79%) | In 1 condition |
| COL5A1collagen type V alpha 1 chain | Often (30–79%) | In 2 conditions |
| EMILIN1elastin microfibril interfacer 1 | Often (30–79%) | In 1 condition |
| FBN2fibrillin 2 | Often (30–79%) | In 1 condition |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Often (30–79%) | In 1 condition |
| MYH11myosin heavy chain 11 | Often (30–79%) | In 2 conditions |
| NPR3natriuretic peptide receptor 3 | Often (30–79%) | In 1 condition |
| RAP1BRAP1B, member of RAS oncogene family | Often (30–79%) | In 1 condition |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Often (30–79%) | In 1 condition |
| THSD4thrombospondin type 1 domain containing 4 | Often (30–79%) | In 2 conditions |
| ACTA2actin alpha 2, smooth muscle | Sometimes (5–29%) | In 1 condition |
| AEBP1AE binding protein 1 | Sometimes (5–29%) | In 2 conditions |
| AFF4ALF transcription elongation factor 4 | Sometimes (5–29%) | In 1 condition |
| ALG5ALG5 dolichyl-phosphate beta-glucosyltransferase | Sometimes (5–29%) | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| ANGPTL6angiopoietin like 6 | Sometimes (5–29%) | In 1 condition |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Sometimes (5–29%) | In 1 condition |
| ATXN7L3ataxin 7 like 3 | Sometimes (5–29%) | In 1 condition |
| BICC1BicC family RNA binding protein 1 | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL3A1collagen type III alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL5A2collagen type V alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| DHRS3dehydrogenase/reductase 3 | Sometimes (5–29%) | In 1 condition |
Show 36 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| DNAJB11DnaJ heat shock protein family (Hsp40) member B11 | Sometimes (5–29%) | In 1 condition |
| ELNelastin | Sometimes (5–29%) | In 1 condition |
| ENGendoglin | Sometimes (5–29%) | In 1 condition |
| FOXE3forkhead box E3 | Sometimes (5–29%) | In 1 condition |
| GANABglucosidase II alpha subunit | Sometimes (5–29%) | In 1 condition |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Sometimes (5–29%) | In 1 condition |
| IFT140intraflagellar transport 140 | Sometimes (5–29%) | In 1 condition |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| MAT2Amethionine adenosyltransferase 2A | Sometimes (5–29%) | In 1 condition |
| MFAP5microfibril associated protein 5 | Sometimes (5–29%) | In 1 condition |
| MID1midline 1 | Sometimes (5–29%) | In 1 condition |
| MYLKmyosin light chain kinase | Sometimes (5–29%) | In 1 condition |
| MYPNmyopalladin | Sometimes (5–29%) | In 1 condition |
| NEK8NIMA related kinase 8 | Sometimes (5–29%) | In 1 condition |
| NKAPNFKB activating protein | Sometimes (5–29%) | In 1 condition |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Sometimes (5–29%) | In 1 condition |
| PGM3phosphoglucomutase 3 | Sometimes (5–29%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Sometimes (5–29%) | In 1 condition |
| PKD1polycystin 1, transient receptor potential channel interacting | Sometimes (5–29%) | In 1 condition |
| PKD2polycystin 2, transient receptor potential cation channel | Sometimes (5–29%) | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Sometimes (5–29%) | In 1 condition |
| PRKG1protein kinase cGMP-dependent 1 | Sometimes (5–29%) | In 1 condition |
| SMAD2SMAD family member 2 | Sometimes (5–29%) | In 1 condition |
| SMAD3SMAD family member 3 | Sometimes (5–29%) | In 1 condition |
| SMAD4SMAD family member 4 | Sometimes (5–29%) | In 1 condition |
| TGFBR3transforming growth factor beta receptor 3 | Sometimes (5–29%) | In 1 condition |
| THSD1thrombospondin type 1 domain containing 1 | Sometimes (5–29%) | In 1 condition |
| TPM2tropomyosin 2 | Sometimes (5–29%) | In 1 condition |
| TPM3tropomyosin 3 | Sometimes (5–29%) | In 1 condition |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Rarely (1–4%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Rarely (1–4%) | In 1 condition |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Rarely (1–4%) | In 1 condition |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Not recorded | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Not recorded | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | 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.
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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