Trait
Abnormal aortic morphology
An abnormality of the aorta.
Summary
- Also called
- Abnormal aorta morphology, Abnormality of the aorta
- Body system
- Abnormality of the cardiovascular system
Reference genomeGRCh38hg38
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Get my Genome Test36 genes linked to Abnormal aortic morphology
Changes in these genes cause rare conditions in which Abnormal aortic morphology 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 |
|---|---|---|
| BRCA1BRCA1 DNA repair associated | Sometimes (5–29%) | In 1 condition |
| BRCA2BRCA2 DNA repair associated | Sometimes (5–29%) | In 1 condition |
| BRIP1BRCA1 interacting DNA helicase 1 | Sometimes (5–29%) | In 1 condition |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Sometimes (5–29%) | In 1 condition |
| BUB3BUB3 mitotic checkpoint protein | Sometimes (5–29%) | In 1 condition |
| CEP57centrosomal protein 57 | Sometimes (5–29%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Sometimes (5–29%) | In 1 condition |
| FAAP100FA core complex associated protein 100 | Sometimes (5–29%) | In 1 condition |
| FANCAFA complementation group A | Sometimes (5–29%) | In 1 condition |
| FANCBFA complementation group B | Sometimes (5–29%) | In 1 condition |
| FANCCFA complementation group C | Sometimes (5–29%) | In 1 condition |
| FANCD2FA complementation group D2 | Sometimes (5–29%) | In 1 condition |
| FANCEFA complementation group E | Sometimes (5–29%) | In 1 condition |
| FANCFFA complementation group F | Sometimes (5–29%) | In 1 condition |
| FANCGFA complementation group G | Sometimes (5–29%) | In 1 condition |
| FANCIFA complementation group I | Sometimes (5–29%) | In 1 condition |
| FANCLFA complementation group L | Sometimes (5–29%) | In 1 condition |
| FANCMFA complementation group M | Sometimes (5–29%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Sometimes (5–29%) | In 1 condition |
| GATA4GATA binding protein 4 | Sometimes (5–29%) | In 1 condition |
| HDAC4histone deacetylase 4 | Sometimes (5–29%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Sometimes (5–29%) | In 1 condition |
| MAD2L2mitotic arrest deficient 2 like 2 | Sometimes (5–29%) | In 1 condition |
| NXNnucleoredoxin | Sometimes (5–29%) | In 1 condition |
| PALB2partner and localizer of BRCA2 | Sometimes (5–29%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Sometimes (5–29%) | In 1 condition |
| RAD51RAD51 recombinase | Sometimes (5–29%) | In 1 condition |
| RAD51CRAD51 paralog C | Sometimes (5–29%) | In 1 condition |
| RFWD3ring finger and WD repeat domain 3 | Sometimes (5–29%) | In 1 condition |
| ROR2ROR family WNT receptor 2 | Sometimes (5–29%) | In 1 condition |
| SLX4SLX4 structure-specific endonuclease subunit | Sometimes (5–29%) | In 1 condition |
| TBX5T-box transcription factor 5 | Sometimes (5–29%) | In 1 condition |
| TRIP13thyroid hormone receptor interactor 13 | Sometimes (5–29%) | In 1 condition |
| UBE2Tubiquitin conjugating enzyme E2 T | Sometimes (5–29%) | In 1 condition |
| XRCC2X-ray repair cross complementing 2 | 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.
Narrower traits
- Narrowing of aorta159 genes
- Bulge in wall of large artery that carries blood away from heart66 genes
- Tear in inner wall of large artery that carries blood away from heart35 genes
- Overriding aorta27 genes
- Calcification of the aorta20 genes
- Aortopulmonary collateral arteries15 genes
- Abnormal aortic arch morphology14 genes
- Aortic atherosclerotic lesion9 genes
- Aortic tortuosity8 genes
- Aortic rupture2 genes
- Abnormal ascending aorta morphology
- Medial degeneration
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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