Trait

Descending aortic dissection

A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.

HPO HP:0012499

Also called: Type B aortic dissection
Body system: Abnormality of the cardiovascular system

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22 genes linked to Descending aortic dissection

Changes in these genes cause rare conditions in which Descending aortic dissection 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
ACTA2actin alpha 2, smooth muscle	Often (30–79%)	In 2 conditions
COL3A1collagen type III alpha 1 chain	Often (30–79%)	In 1 condition
EFEMP2EGF-like fibulin extracellular matrix protein 2	Often (30–79%)	In 1 condition
ELNelastin	Often (30–79%)	In 1 condition
EMILIN1elastin microfibril interfacer 1	Often (30–79%)	In 1 condition
FBN1fibrillin 1	Often (30–79%)	In 1 condition
FOXE3forkhead box E3	Often (30–79%)	In 2 conditions
HEY2hes related family bHLH transcription factor with YRPW motif 2	Often (30–79%)	In 1 condition
LOXlysyl oxidase	Often (30–79%)	In 1 condition
MAT2Amethionine adenosyltransferase 2A	Often (30–79%)	In 1 condition
MFAP5microfibril associated protein 5	Often (30–79%)	In 1 condition
MYH11myosin heavy chain 11	Often (30–79%)	In 3 conditions
MYLKmyosin light chain kinase	Often (30–79%)	In 2 conditions
PRKG1protein kinase cGMP-dependent 1	Often (30–79%)	In 2 conditions
SMAD2SMAD family member 2	Often (30–79%)	In 1 condition
SMAD3SMAD family member 3	Often (30–79%)	In 2 conditions
SMAD4SMAD family member 4	Often (30–79%)	In 1 condition
TGFB2transforming growth factor beta 2	Often (30–79%)	In 1 condition
TGFB3transforming growth factor beta 3	Often (30–79%)	In 1 condition
TGFBR1transforming growth factor beta receptor 1	Often (30–79%)	In 1 condition
TGFBR2transforming growth factor beta receptor 2	Often (30–79%)	In 2 conditions
THSD4thrombospondin type 1 domain containing 4	Often (30–79%)	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

Tear in inner wall of large artery that carries blood away from heart

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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