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Trait

Abnormal mast cell morphology

Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.

HPO HP:0100494

Summary

Also called
Abnormality of mast cells, Abnormality of mastocytes
Body system
Abnormality of blood and blood-forming tissuesAbnormality of the immune system

7 genes linked to Abnormal mast cell morphology

Changes in these genes cause rare conditions in which Abnormal mast cell 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.

GeneHow often it is seenConditions
ASXL1ASXL transcriptional regulator 1Very often (80–99%)In 2 conditions
CBLCbl proto-oncogeneVery often (80–99%)In 1 condition
KITKIT proto-oncogene, receptor tyrosine kinaseVery often (80–99%)In 1 condition
RUNX1RUNX family transcription factor 1Very often (80–99%)In 1 condition
SRSF2serine and arginine rich splicing factor 2Very often (80–99%)In 2 conditions
TET2tet methylcytosine dioxygenase 2Very often (80–99%)In 2 conditions
CYP26C1cytochrome P450 family 26 subfamily C member 1Often (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.

Narrower traits

Broader traits

Abnormal granulocyte 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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