Trait
Bone marrow disease
Clinical name: Abnormal bone marrow cell morphology
An anomaly of the form or number of cells in the bone marrow.
Summary
- Also called
- Abnormality of bone marrow cell morphology, Anomaly of the bone marrow cells
Reference genomeGRCh38hg38
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Get my Genome Test24 genes linked to Bone marrow disease
Changes in these genes cause rare conditions in which Bone marrow disease 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 2 conditions |
| JAK2Janus kinase 2 | Very often (80–99%) | In 2 conditions |
| LPIN2lipin 2 | Very often (80–99%) | In 1 condition |
| 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 |
| ATMATM serine/threonine kinase | Often (30–79%) | In 1 condition |
| CCND1cyclin D1 | Often (30–79%) | In 1 condition |
| IGHimmunoglobulin heavy locus | Often (30–79%) | In 1 condition |
| LIG4DNA ligase 4 | Often (30–79%) | In 1 condition |
| MYCMYC proto-oncogene, bHLH transcription factor | Often (30–79%) | In 1 condition |
| CD28CD28 molecule | Sometimes (5–29%) | In 1 condition |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Sometimes (5–29%) | In 1 condition |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Sometimes (5–29%) | In 1 condition |
| EVCEvC ciliary complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| EVC2EvC ciliary complex subunit 2 | Sometimes (5–29%) | In 1 condition |
| GLI1GLI family zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| HPGD15-hydroxyprostaglandin dehydrogenase | Sometimes (5–29%) | In 1 condition |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Sometimes (5–29%) | In 1 condition |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Sometimes (5–29%) | In 1 condition |
| TNFRSF1BTNF receptor superfamily member 1B | Sometimes (5–29%) | In 1 condition |
| CXCR4C-X-C motif chemokine receptor 4 | Not recorded | 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
- Abnormal megakaryocyte morphology11 genes
- Abnormality of multiple cell lineages in the bone marrow7 genes
- Bone marrow maturation arrest6 genes
- Abnormal erythroid lineage cell morphology2 genes
- Abnormal granulocytopoietic cell morphology2 genes
- Lymphoid hyperplasia2 genes
- Abnormality of bone marrow stromal cells1 gene
- Bone marrow cystine accumulation1 gene
- Increased bone marrow iron1 gene
Broader traits
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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