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thrombocythemia 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thrombocythemia 3

MONDO:0013794

Also known as:JAK2 familial thrombocytosisfamilial thrombocytosis caused by mutation in JAK2thrombocythemia 3, autosomal dominant, somatic mutation

Overview

Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene.

GeneticsMultifactorial, Autosomal dominant · JAK2 (chr 9)

OnsetADULT

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Elevated platelet count (thrombocytosis); and common findings: Ischemic stroke. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Elevated platelet count (thrombocytosis)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

JAK2 encodes Janus kinase 2 (1,132 aa). Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Highest expression in Artery Tibial (68.9 TPM) and Artery Aorta (46.9 TPM).

Thrombocythemia 3 is associated with mutations in the JAK2 gene on chromosome 9.

JAK2 is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, Enzyme, Kinase, and Tyrosine Kinase categories) with score 1.7.

Diagnosis

Genetic testing for JAK2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for thrombocythemia 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for thrombocythemia 3.

256 publications have been identified in PubMed for thrombocythemia 3. Research spans Epidemiology / Natural History (26%), Case Report / Case Series (17%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Disease patterns and progression	67	26%

Data assembled from 5 of 12 sources · Last updated Nov 3, 2026, 9:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614521

Questions for Your Care Team

→Should I pursue genetic testing for JAK2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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thrombocythemia 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

thrombocythemia 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications