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Trait

Impaired platelet aggregation

An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.

HPO HP:0003540

Summary

Also called
Defective platelet aggregation, Deficient platelet aggregation, Platelet aggregation defect
Body system
Abnormality of blood and blood-forming tissues

12 genes linked to Impaired platelet aggregation

Changes in these genes cause rare conditions in which Impaired platelet aggregation 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
BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3AlwaysIn 1 condition
DTNBP1dystrobrevin binding protein 1AlwaysIn 1 condition
GATA1GATA binding protein 1AlwaysIn 1 condition
HPS3HPS3 biogenesis of lysosomal organelles complex 2 subunit 1AlwaysIn 1 condition
RUNX1RUNX family transcription factor 1AlwaysIn 1 condition
MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferaseSometimes (5–29%)In 1 condition
ABCG8ATP binding cassette subfamily G member 8Not recordedIn 1 condition
FLI1Fli-1 proto-oncogene, ETS transcription factorNot recordedIn 1 condition
ITGA2Bintegrin subunit alpha 2bNot recordedIn 2 conditions
KCNJ1potassium inwardly rectifying channel subfamily J member 1Not recordedIn 1 condition
PLA2G4Aphospholipase A2 group IVANot recordedIn 1 condition
VWFvon Willebrand factorNot recordedIn 2 conditions

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 platelet aggregation

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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