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Trait

Right aortic arch

Aorta descends on right instead of on the left.

HPO HP:0012020

Summary

Also called
Right-sided aortic arch
Body system
Abnormality of the cardiovascular system

20 genes linked to Right aortic arch

Changes in these genes cause rare conditions in which Right aortic arch 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.

GeneHow often it is seenConditions
DNAH1dynein axonemal heavy chain 1AlwaysIn 1 condition
SRSF1serine and arginine rich splicing factor 1AlwaysIn 1 condition
ACVR2Bactivin A receptor type 2BOften (30–79%)In 1 condition
CFAP53cilia and flagella associated protein 53Often (30–79%)In 1 condition
CHD7chromodomain helicase DNA binding protein 7Often (30–79%)In 1 condition
CLXNcalaxinOften (30–79%)In 1 condition
PKD1L1polycystin 1 like 1, transient receptor potential channel interactingOften (30–79%)In 1 condition
PLXND1plexin D1Often (30–79%)In 1 condition
ZMYM3zinc finger MYM-type containing 3Often (30–79%)In 1 condition
DNAH9dynein axonemal heavy chain 9Sometimes (5–29%)In 1 condition
IFT56intraflagellar transport 56Sometimes (5–29%)In 1 condition
MMP21matrix metallopeptidase 21Sometimes (5–29%)In 1 condition
SF3B2splicing factor 3b subunit 2Sometimes (5–29%)In 1 condition
TBCKTBC1 domain containing kinaseSometimes (5–29%)In 1 condition
TMEM260transmembrane protein 260Sometimes (5–29%)In 1 condition
WDR26WD repeat domain 26Sometimes (5–29%)In 2 conditions
WT1WT1 transcription factorSometimes (5–29%)In 1 condition
CIROPciliated left-right organizer metallopeptidaseRarely (1–4%)In 1 condition
FLT4fms related receptor tyrosine kinase 4Not recordedIn 1 condition
GDF1growth differentiation factor 1Not recordedIn 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 branching pattern of the aortic arch

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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