Trait
Macrothrombocytopenia
Summary
- Also called
- Macrothrombozytopenia
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Macrothrombocytopenia, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test19 genes linked to Macrothrombocytopenia
Changes in these genes cause rare conditions in which Macrothrombocytopenia 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 |
|---|---|---|
| DIAPH1diaphanous related formin 1 | Always | In 1 condition |
| GALEUDP-galactose-4-epimerase | Always | In 1 condition |
| GFI1Bgrowth factor independent 1B transcriptional repressor | Always | In 2 conditions |
| GP1BAglycoprotein Ib platelet subunit alpha | Always | In 3 conditions |
| GP1BBglycoprotein Ib platelet subunit beta | Always | In 3 conditions |
| GP9glycoprotein IX platelet | Always | In 2 conditions |
| ITGA2Bintegrin subunit alpha 2b | Always | In 2 conditions |
| MYH9myosin heavy chain 9 | Always | In 1 condition |
| PRKACGprotein kinase cAMP-activated catalytic subunit gamma | Always | In 1 condition |
| TUBB1tubulin beta 1 class VI | Always | In 2 conditions |
| ACTN1actinin alpha 1 | Very often (80–99%) | In 1 condition |
| GATA1GATA binding protein 1 | Very often (80–99%) | In 1 condition |
| ITGB3integrin subunit beta 3 | Very often (80–99%) | In 1 condition |
| TPM4tropomyosin 4 | Very often (80–99%) | In 2 conditions |
| TRPM7transient receptor potential cation channel subfamily M member 7 | Very often (80–99%) | In 1 condition |
| TUBA8tubulin alpha 8 | Very often (80–99%) | In 2 conditions |
| ABCG5ATP binding cassette subfamily G member 5 | Often (30–79%) | In 1 condition |
| ABCG8ATP binding cassette subfamily G member 8 | Often (30–79%) | In 1 condition |
| SLC35A1solute carrier family 35 member A1 | 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.
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.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks