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thrombocythemia 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thrombocythemia 2

MONDO:0011173

Also known as:MPL familial thrombocytosisfamilial thrombocytosis caused by mutation in MPLthrombocythemia 2, autosomal dominant, somatic mutation

Overview

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

GeneticsMultifactorial, Autosomal dominant · MPL (chr 1)

Clinical Presentation

Features include: Increased megakaryocyte count and Elevated platelet count (thrombocytosis).

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

Explore clinical features

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.

MPL encodes MPL proto-oncogene, thrombopoietin receptor (635 aa). Receptor for thrombopoietin that regulates hematopoietic stem cell renewal, megakaryocyte differentiation, and platelet formation. Highest expression in Testis (1.5 TPM) and Ovary (0.7 TPM).

Thrombocythemia 2 is caused by mutations in the MPL gene on chromosome 1.

The MPL protein participates in SH2B proteins bind JAK2 and Factors involved in megakaryocyte development and platelet production pathways.

MPL is classified as a druggable target (Cell Surface, Clinically Actionable, Druggable Genome, External Side Of Plasma Membrane, and Kinase categories) with score 9.5.

Diagnosis

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

Biomarker and diagnostic research for thrombocythemia 2 has been reported in the published literature.

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 2.

217 publications have been identified in PubMed for thrombocythemia 2. Kisho has analyzed 131 by research type. Research spans Review / Meta-Analysis (27%), Epidemiology / Natural History (21%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Research summaries	35	27%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 3:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601977

Questions for Your Care Team

→Should I pursue genetic testing for MPL, 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 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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