Trait

Increased megakaryocyte count

Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.

HPO HP:0005513

Body system: Abnormality of blood and blood-forming tissues

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8 genes linked to Increased megakaryocyte count

Changes in these genes cause rare conditions in which Increased megakaryocyte count 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
CALRcalreticulin	Very often (80–99%)	In 1 condition
JAK2Janus kinase 2	Very often (80–99%)	In 2 conditions
MPLMPL proto-oncogene, thrombopoietin receptor	Very often (80–99%)	In 2 conditions
SH2B3SH2B adaptor protein 3	Very often (80–99%)	In 1 condition
TET2tet methylcytosine dioxygenase 2	Very often (80–99%)	In 2 conditions
TP53tumor protein p53	Very often (80–99%)	In 1 condition
GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	Often (30–79%)	In 1 condition
SF3B1splicing factor 3b subunit 1	Rarely (1–4%)	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 megakaryocyte 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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