thrombocythemia 3
MONDO:0013794Mondo
Findings
No curated finding names thrombocythemia 3 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 JAK2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013794), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 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.
- ThrombocytosisHPOHP:0001894
- 6 of 6 reported patients
- Ischemic strokeHPOHP:0002140
- 2 of 6 reported patients · Adult onset
- Increased micromegakaryocyte countHPOHP:0031386
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.
- JAK2HGNC:6192
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: thrombocythemia 3
- Also called
- familial thrombocytosis caused by mutation in JAK2JAK2 familial thrombocytosisthrombocythemia 3, autosomal dominant, somatic mutationthrombocythemia type 3