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Trait

Bone marrow maturation arrest

Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow.

HPO HP:0033606

Summary

Also called
Haematopoietic maturation arrest, Hematopoietic maturation arrest
Body system
Abnormality of blood and blood-forming tissues

6 genes linked to Bone marrow maturation arrest

Changes in these genes cause rare conditions in which Bone marrow maturation arrest 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
CLPBClpB family mitochondrial disaggregaseAlwaysIn 1 condition
FLNAfilamin AAlwaysIn 1 condition
SEC61A1SEC61 translocon subunit alpha 1AlwaysIn 1 condition
SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2AlwaysIn 1 condition
WASWASP actin nucleation promoting factorAlwaysIn 1 condition
JAGN1jagunal vesicle mediated transporter 1Very often (80–99%)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

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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