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Trait

Small dilated blood vessels near membrane covering front of eye and eyelids

Clinical name: Conjunctival telangiectasia

The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.

HPO HP:0000524

Summary

Also called
Conjunctival telangiectases, Telangiectasia, conjunctival
Body system
Abnormality of head or neckAbnormality of the cardiovascular systemAbnormality of the eyeAbnormality of the integument

23 genes linked to Small dilated blood vessels near membrane covering front of eye and eyelids

Changes in these genes cause rare conditions in which Small dilated blood vessels near membrane covering front of eye and eyelids 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
ATMATM serine/threonine kinaseAlwaysIn 1 condition
LIG1DNA ligase 1AlwaysIn 1 condition
DDB2damage specific DNA binding protein 2Very often (80–99%)In 1 condition
ERCC2ERCC excision repair 2, TFIIH core complex helicase subunitVery often (80–99%)In 1 condition
ERCC3ERCC excision repair 3, TFIIH core complex helicase subunitVery often (80–99%)In 1 condition
ERCC4ERCC excision repair 4, endonuclease catalytic subunitVery often (80–99%)In 1 condition
ERCC5ERCC excision repair 5, endonucleaseVery often (80–99%)In 1 condition
GLAgalactosidase alphaVery often (80–99%)In 1 condition
XPAXPA, DNA damage recognition and repair factorVery often (80–99%)In 1 condition
XPCXPC complex subunit, DNA damage recognition and repair factorVery often (80–99%)In 1 condition
NBNnibrinOften (30–79%)In 1 condition
PCNAproliferating cell nuclear antigenOften (30–79%)In 1 condition
PEX6peroxisomal biogenesis factor 6Often (30–79%)In 1 condition
SASH1SAM and SH3 domain containing 1Often (30–79%)In 1 condition
ACVRL1activin A receptor like type 1Sometimes (5–29%)In 2 conditions
ENGendoglinSometimes (5–29%)In 2 conditions
GDF2growth differentiation factor 2Sometimes (5–29%)In 1 condition
GNAQG protein subunit alpha qSometimes (5–29%)In 1 condition
RNF168ring finger protein 168Sometimes (5–29%)In 1 condition
SETXsenataxinSometimes (5–29%)In 1 condition
SMAD4SMAD family member 4Sometimes (5–29%)In 1 condition
CTSAcathepsin ANot recordedIn 1 condition
MASP1MBL associated serine protease 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.

Broader traits

Abnormal morphology of the conjunctival vasculatureMucosal telangiectasiae

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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