thrombocythemia 2
Findings
No curated finding names thrombocythemia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene that produces constitutive activation of the thrombopoietin receptor, leading to excessive megakaryocyte proliferation and elevated platelet counts. Affected individuals exhibit sustained thrombocythemia, which may be accompanied by thrombotic or hemorrhagic complications and, in rare cases, leukemic transformation.
Definition from the Mondo Disease Ontology (MONDO:0011173), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by somatic mosaicism
HPO, annotations 2026-09-02
Features
2 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 megakaryocyte countHPOHP:0005513
- ThrombocytosisHPOHP:0001894
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.
- MPLHGNC:7217
- Definitive · Ambry Genetics · Autosomal dominant · 2022
- Definitive · ClinGen · Autosomal dominant · 2020
- Definitive · Natera · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: thrombocythemia 2
- Also called
- familial thrombocytosis caused by mutation in MPLMPL familial thrombocytosisMPL-related thrombocythemiaTHCYT2