Trait

Abnormal systemic arterial morphology

An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.

HPO HP:0011004

Also called: Abnormal systemic artery morphology, Abnormality of the systemic arterial tree, Systemic artery abnormality
Body system: Abnormality of the cardiovascular system

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12 genes linked to Abnormal systemic arterial morphology

Changes in these genes cause rare conditions in which Abnormal systemic arterial 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
EFEMP2EGF-like fibulin extracellular matrix protein 2	Often (30–79%)	In 1 condition
FBLN5fibulin 5	Often (30–79%)	In 1 condition
LTBP1latent transforming growth factor beta binding protein 1	Often (30–79%)	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
BICC1BicC family RNA binding protein 1	Sometimes (5–29%)	In 1 condition
DNAJB11DnaJ heat shock protein family (Hsp40) member B11	Sometimes (5–29%)	In 1 condition
GANABglucosidase II alpha subunit	Sometimes (5–29%)	In 1 condition
IFT140intraflagellar transport 140	Sometimes (5–29%)	In 1 condition
NEK8NIMA related kinase 8	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

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

Abnormal blood vessel 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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