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

Targets

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
ruxolitinib
Approved in 2014 for this indication.

Ligands

Key to terms and symbols Click ligand name to view ligand summary Click column headers to sort
Ligand References Clinical and Disease comments
ruxolitinib
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 the new use of treating patients with polycythemia vera, a chronic type of bone marrow disease.

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

References

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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, R Clynes R. (2016) Oral ruxolitinib induces hair regrowth in patients with moderate-to-severe alopecia areata. JCI Insight, 1 (15): e89790 Epub.

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]