thrombocytopenia 5
Findings
No curated finding names thrombocytopenia 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene that impair transcriptional repression and megakaryocyte maturation. It is characterized by lifelong thrombocytopenia, mild mucocutaneous bleeding, and variable red cell macrocytosis. Affected individuals have a significantly increased susceptibility to hematologic malignancies, including B‑cell ALL, myelodysplastic syndrome, CMML, and mixed‑phenotype acute leukemia, with onset ranging from childhood to adulthood. Functional studies show that pathogenic ETV6 variants disrupt DNA binding, alter nuclear localization, and exert dominant‑negative effects on hematopoiesis, providing a mechanistic basis for both the platelet phenotype and cancer predisposition.
Definition from the Mondo Disease Ontology (MONDO:0014536), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased mean corpuscular volumeHPOHP:0005518
- 10 of 10 reported patients
- ThrombocytopeniaHPOHP:0001873
- 23 of 23 reported patients
- B Acute Lymphoblastic LeukemiaHPOHP:0004812
- 3 of 10 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 2 of 13 reported patients
- AnemiaHPOHP:0001903
- 1 of 13 reported patients
- Bruising susceptibilityHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ETV6HGNC:3495
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · ClinGen · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: thrombocytopenia 5
- Also called
- ETV6 thrombocytopeniaETV6-related thrombocytopenia with or without myeloid malignancythrombocytopenia caused by mutation in ETV6