Trait

Abnormal aortic arch morphology

An anomaly of the arch of aorta.

HPO HP:0012303

Also called: Abnormality of the aortic arch
Body system: Abnormality of the cardiovascular system

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14 genes linked to Abnormal aortic arch morphology

Changes in these genes cause rare conditions in which Abnormal aortic arch 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
ARVCFARVCF delta catenin family member	Very often (80–99%)	In 1 condition
COMTcatechol-O-methyltransferase	Very often (80–99%)	In 1 condition
GP1BBglycoprotein Ib platelet subunit beta	Very often (80–99%)	In 1 condition
HIRAhistone cell cycle regulator	Very often (80–99%)	In 1 condition
JMJD1Cjumonji domain containing 1C	Very often (80–99%)	In 1 condition
RREB1ras responsive element binding protein 1	Very often (80–99%)	In 1 condition
SEC24CSEC24 homolog C, COPII component	Very often (80–99%)	In 1 condition
TBX1T-box transcription factor 1	Very often (80–99%)	In 1 condition
UFD1ubiquitin recognition factor in ER associated degradation 1	Very often (80–99%)	In 1 condition
MCTP2multiple C2 and transmembrane domain containing 2	Often (30–79%)	In 1 condition
DLK1delta like non-canonical Notch ligand 1	Sometimes (5–29%)	In 1 condition
MEG3maternally expressed 3	Sometimes (5–29%)	In 1 condition
PIGNphosphatidylinositol glycan anchor biosynthesis class N	Sometimes (5–29%)	In 1 condition
RTL1retrotransposon Gag like 1	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

Broader traits

Abnormal aortic morphology

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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