Trait

Abnormal megakaryocyte morphology

Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.

HPO HP:0012143

Also called: Abnormality of cells of the megakaryocyte lineage
Body system: Abnormality of blood and blood-forming tissues

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11 genes linked to Abnormal megakaryocyte morphology

Changes in these genes cause rare conditions in which Abnormal megakaryocyte 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
GATA1GATA binding protein 1	Very often (80–99%)	In 1 condition
SLC35A1solute carrier family 35 member A1	Very often (80–99%)	In 1 condition
CALRcalreticulin	Often (30–79%)	In 1 condition
JAK2Janus kinase 2	Often (30–79%)	In 1 condition
MPLMPL proto-oncogene, thrombopoietin receptor	Often (30–79%)	In 1 condition
RPS14ribosomal protein S14	Often (30–79%)	In 1 condition
TET2tet methylcytosine dioxygenase 2	Often (30–79%)	In 2 conditions
GP1BAglycoprotein Ib platelet subunit alpha	Sometimes (5–29%)	In 1 condition
GP1BBglycoprotein Ib platelet subunit beta	Sometimes (5–29%)	In 1 condition
GP9glycoprotein IX platelet	Sometimes (5–29%)	In 1 condition
SF3B1splicing factor 3b subunit 1	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.

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Broader traits

Bone marrow disease

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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