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Polycythemia vera

Disease ID:763
Name:Polycythemia vera
Associated with:2 targets
1 immuno-relevant target
1 immuno-relevant ligand
Database Links
Disease Ontology: DOID:8997
OMIM: 263300
Orphanet: ORPHA729


Thrombopoietin receptor
Janus kinase 2
Comments:  Most cases of PV are associated with a somatic mutation in the JAK2 gene. The JAK2 V617F mutation causes constitutive tyrosine phosphorylation activity which promotes phenotypic changes consistent with PV pathology.
Ligand interactions: 
Ligand Comments
Approved in 2014 for this indication.


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Ligand References Clinical and Disease comments
Immuno Disease Comments: Approved in 2014 for this indication.
Clinical Use: Used to treat intermediate or high-risk myelofibrosis including including primary myelofibrosis, post-polycythemia vera (post-PV) myelofibrosis and post-essential thrombocythemia (post-ET) myelofibrosis.
In 2014 ruxolitinib was approved for use as a treatment for polycythemia vera, a chronic type of bone marrow disease.
In May 2019, the FDA approved ruxolitinib as a treatment for steroid-refractory acute graft-versus-host disease (GvHD) in patients ≥12 years old.

Interesting results from small trials in patients with alopecia areata suggest that by killing the immune cells responsible for hair loss in this disease, ruxolitinib can promote hair re-growth [4-5]. | View clinical data


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1. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N et al.. (2005) Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet, 365 (9464): 1054-61. [PMID:15781101]

2. James C, Ugo V, Le Couédic JP, Staerk J, Delhommeau F, Lacout C, Garçon L, Raslova H, Berger R, Bennaceur-Griscelli A et al.. (2005) A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature, 434 (7037): 1144-8. [PMID:15793561]

3. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC. (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med, 352 (17): 1779-90. [PMID:15858187]

4. Mackay-Wiggan J, Jabbari A, Nguyen N, Cerise JE, Clark C, Ulerio G, Furniss M, Vaughan R, Christiano AM, Clynes R. (2016) Oral ruxolitinib induces hair regrowth in patients with moderate-to-severe alopecia areata. JCI Insight, 1 (15): e89790. [PMID:27699253]

5. Xing L, Dai Z, Jabbari A, Cerise JE, Higgins CA, Gong W, de Jong A, Harel S, DeStefano GM, Rothman L et al.. (2014) Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition. Nat Med, 20 (9): 1043-9. [PMID:25129481]