PV
MCID: PLY001
MIFTS: 69

Polycythemia Vera (PV)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Polycythemia Vera

MalaCards integrated aliases for Polycythemia Vera:

Name: Polycythemia Vera 56 12 74 52 25 58 73 36 29 13 54 6 43 15 37 62 39 17 71
Pv 56 52 25 58 73
Polycythemia Rubra Vera 56 52 58 73
Prv 56 52 25 73
Osler-Vaquez Disease 25 58 73
Primary Polycythemia 52 25
Acquired Primary Erythrocytosis 58
Polycythemia Rubra Vera; Prv 56
Proliferative Polycythaemia 12
Polycythemia Vera, Somatic 56
Polycythaemia Rubra Vera 12
Polycythemia Ruba Vera 25
Osler-Vaquez Syndrome 12
Chronic Erythremia 12
Vaquez Disease 58

Characteristics:

Orphanet epidemiological data:

58
polycythemia vera
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-5/10000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
somatic mutation

Miscellaneous:
mean age at onset 57-60 years
children rarely develop the disorder
familial cases are rare and show incomplete penetrance
distinct disorder from familial erythrocytosis (ecyt1, )


HPO:

31

Classifications:

Orphanet: 58  
Rare haematological diseases


Summaries for Polycythemia Vera

Genetics Home Reference : 25 Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cells called platelets. These extra cells and platelets cause the blood to be thicker than normal. As a result, abnormal blood clots are more likely to form and block the flow of blood through arteries and veins. Individuals with polycythemia vera have an increased risk of deep vein thrombosis (DVT), a type of blood clot that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Affected individuals also have an increased risk of heart attack and stroke caused by blood clots in the heart and brain. Polycythemia vera typically develops in adulthood, around age 60, although in rare cases it occurs in children and young adults. This condition may not cause any symptoms in its early stages. Some people with polycythemia vera experience headaches, dizziness, ringing in the ears (tinnitus), impaired vision, or itchy skin. Affected individuals frequently have reddened skin because of the extra red blood cells. Other complications of polycythemia vera include an enlarged spleen (splenomegaly), stomach ulcers, gout (a form of arthritis caused by a buildup of uric acid in the joints), heart disease, and cancer of blood-forming cells (leukemia).

MalaCards based summary : Polycythemia Vera, also known as pv, is related to budd-chiari syndrome and primary polycythemia. An important gene associated with Polycythemia Vera is JAK2 (Janus Kinase 2), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Panobinostat and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.

NIH Rare Diseases : 52 Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream (erythrocytosis). Affected people may also have excess white blood cells and platelets . Conditions where the body makes too many of these cells are known as myeloproliferative neoplasms . These extra cells cause the blood to be thicker than normal, increasing the risk for blood clots that can block blood flow in arteries and veins. If a blood clot occurs in the veins deep in the arms and the legs, it is known as deep vein thrombosis (DVT). A DVT can sometimes travel through the blood stream to the lungs, which can cause a pulmonary embolism and is very dangerous. A blood clot could also travel to the heart or brain, which leads to an increased risk for heart attack or stroke . Most cases of PV are not inherited and are acquired during a person's lifetime. PV is more common as a person ages, and it typically presents for the first time around 60-years-old. PV occurs more frequently in men than it does in women. The condition has been associated with mutations in the JAK2 and TET2 genes . In rare cases, the risk for PV runs in families and may be inherited in an autosomal dominant manner.

OMIM : 56 Polycythemia vera, the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients (Cario, 2005). PV is distinct from the familial erythrocytoses (see, e.g., ECYT1, 133100), which are caused by inherited mutations resulting in hypersensitivity of erythroid progenitors to hormonal influences or increased levels of circulating hormones, namely erythropoietin (EPO; 133170) (Prchal, 2005). (263300)

KEGG : 36 Polycythemia vera (PV) is a clonal myeloproliferative disease characterized by an erythroid dominant trilineage proliferation of hematopoietic precursor cells. PV belongs to the family of chronic myeloproliferative disorders (MPD), which includes hematological diseases that share clinical and biological similarities, such as a hematopoietic stem cell origin: PV, essential thrombocythemia (ET), primary myelofibrosis (PMF), chronic myeloid leukemia (CML), some types of hypereosinophilic syndrome (HES), systemic mast cell disease (SMD) and other rare disorders. Recently, a specific point mutation in the Janus kinase 2 (JAK2) gene was described in a majority of PV patients and thus constitutes a sensitive diagnostic marker for the disease.

UniProtKB/Swiss-Prot : 73 Polycythemia vera: A myeloproliferative disorder characterized by abnormal proliferation of all hematopoietic bone marrow elements, erythroid hyperplasia, an absolute increase in total blood volume, but also by myeloid leukocytosis, thrombocytosis and splenomegaly.

PubMed Health : 62 About polycythemia vera: Polycythemia vera (POL-e-si-THEE-me-ah VAY-rah or VE-rah), or PV, is a rare blood disease in which your body makes too many red blood cells. The extra red blood cells make your blood thicker than normal. As a result, blood clots can form more easily. These clots can block blood flow through your arteries and veins, which can cause a heart attack or stroke. Thicker blood also doesn't flow as quickly to your body as normal blood. Slowed blood flow prevents your organs from getting enough oxygen, which can cause serious problems, such as angina (an-JI-nuh or AN-juh-nuh) and heart failure. (Angina is chest pain or discomfort.)

Wikipedia : 74 Polycythemia vera is an uncommon myeloproliferative neoplasm in which the bone marrow makes too many red... more...

Related Diseases for Polycythemia Vera

Diseases related to Polycythemia Vera via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 618)
# Related Disease Score Top Affiliating Genes
1 budd-chiari syndrome 33.6 MPL JAK2 F5 CALR
2 primary polycythemia 33.6 JAK2 IL3 EPOR EPO
3 polycythemia 33.3 THPO TET2 STAT5A MPL KITLG JAK2
4 essential thrombocythemia 32.9 THPO TET2 STAT5A STAT3 MPL KIT
5 splenomegaly 32.4 MPL JAK2 IFNA1 EPO
6 thrombosis 32.2 MPL JAK2 F5 EPO
7 acute leukemia 31.9 THPO MPL KITLG KIT JAK2 IL3
8 thrombocytosis 31.9 THPO TET2 MPL KITLG JAK2 IL3
9 acquired polycythemia 31.9 MPL JAK2 EPOR EPO
10 myeloproliferative neoplasm 31.9 TYK2 THPO TET2 STAT5A STAT3 MPL
11 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 31.8 IL3 EPOR EPO
12 deficiency anemia 31.6 THPO KIT JAK2 EPOR EPO
13 myeloid leukemia 31.6 TET2 STAT5A STAT3 KIT JAK2 IL3
14 leukemia 31.6 THPO TET2 STAT3 MPL KIT JAK3
15 myelofibrosis 31.5 THPO TET2 STAT5A STAT3 MPL KIT
16 chronic neutrophilic leukemia 31.4 TET2 JAK2 IFNA1 CALR
17 portal vein thrombosis 31.4 MPL JAK2 IFNA1 F5 CALR
18 pancytopenia 31.4 THPO MPL KIT IL3 EPO
19 thrombocytopenia 31.3 THPO STAT3 MPL KITLG JAK2 IL3
20 refractory anemia 31.2 TET2 MPL IL3 EPO
21 erythrocytosis, familial, 1 31.2 STAT5A JAK2 IL3 EPOR EPO
22 myelophthisic anemia 31.1 MPL JAK2 EPO CALR
23 hypereosinophilic syndrome 31.0 STAT3 KIT JAK2 IL3 IFNA1
24 chronic myelomonocytic leukemia 31.0 TET2 STAT5A MPL KIT JAK2 CALR
25 myelodysplastic syndrome 31.0 THPO TET2 STAT5A STAT3 MPL KITLG
26 neutropenia 30.9 THPO MPL KITLG IL3 IFNA1 EPO
27 megakaryocytic leukemia 30.9 THPO KITLG JAK3 JAK2 IL3 EPOR
28 beta-thalassemia 30.9 JAK2 IL3 EPOR EPO
29 aplastic anemia 30.9 THPO TET2 STAT3 MPL KITLG IL3
30 retinitis pigmentosa and erythrocytic microcytosis 30.8 JAK2 IL3 EPO
31 leukemia, acute lymphoblastic 30.8 THPO MPL KITLG KIT JAK3 JAK2
32 leukemia, chronic lymphocytic 30.7 THPO TET2 STAT5A STAT3 MIR150 KIT
33 hemoglobinuria 30.7 THPO MPL EPO
34 mastocytosis 30.6 TET2 STAT5A KITLG KIT JAK2 IL3
35 chronic eosinophilic leukemia 30.6 TET2 STAT5A KIT JAK2 IFNA1
36 mastocytosis, cutaneous 30.6 TET2 KITLG KIT IL3
37 gastrointestinal stromal tumor 30.6 STAT3 KITLG KIT JAK2
38 chronic leukemia 30.6 TET2 STAT5A STAT3 KIT JAK2
39 myeloma, multiple 30.6 STAT5A STAT3 KIT JAK2 JAK1 IL3
40 adult t-cell leukemia 30.5 STAT3 JAK3 IFNA1
41 leukemia, chronic myeloid 30.5 THPO STAT5A STAT3 MPL KITLG KIT
42 leukemia, acute myeloid 30.5 THPO TET2 STAT5A STAT3 MPL MIR150
43 systemic mastocytosis 30.4 TET2 STAT5A STAT3 KITLG KIT JAK2
44 fibrosarcoma 30.4 TYK2 KIT JAK2 JAK1
45 blood coagulation disease 30.3 THPO MPL KIT JAK2 IL3 IFNA1
46 acute promyelocytic leukemia 30.3 THPO STAT5A STAT3 KITLG JAK1 IL3
47 severe combined immunodeficiency 30.2 TYK2 STAT5A KITLG KIT JAK3 JAK1
48 juvenile myelomonocytic leukemia 30.1 TET2 STAT5A STAT3 MIR150 JAK3 JAK2
49 systemic lupus erythematosus 29.5 TYK2 STAT3 MIR150 JAK2 JAK1 IFNA1
50 psoriasis 1 11.9

Graphical network of the top 20 diseases related to Polycythemia Vera:



Diseases related to Polycythemia Vera

Symptoms & Phenotypes for Polycythemia Vera

Human phenotypes related to Polycythemia Vera:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
4 gingival bleeding 58 31 hallmark (90%) Very frequent (99-80%) HP:0000225
5 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
6 hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0000822
7 myelodysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002863
8 angina pectoris 58 31 hallmark (90%) Very frequent (99-80%) HP:0001681
9 vertigo 58 31 hallmark (90%) Very frequent (99-80%) HP:0002321
10 epistaxis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000421
11 bruising susceptibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000978
12 acute leukemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002488
13 headache 58 31 hallmark (90%) Very frequent (99-80%) HP:0002315
14 tinnitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000360
15 myelofibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0011974
16 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
17 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
18 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
19 portal hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001409
20 pruritus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000989
21 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
22 stroke 58 31 occasional (7.5%) Occasional (29-5%) HP:0001297
23 pulmonary embolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002204
24 arterial thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004420
25 budd-chiari syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0002639
26 intermittent claudication 58 31 occasional (7.5%) Occasional (29-5%) HP:0004417
27 portal vein thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0030242
28 thrombocytopenia 31 HP:0001873
29 venous thrombosis 58 Occasional (29-5%)
30 cerebral ischemia 31 HP:0002637
31 cerebral hemorrhage 31 HP:0001342
32 leukocytosis 31 HP:0001974
33 increased megakaryocyte count 31 HP:0005513
34 thrombocytosis 31 HP:0001894
35 thromboembolism 31 HP:0001907
36 abnormal thrombosis 31 HP:0001977
37 increased hematocrit 31 HP:0001899
38 increased red blood cell mass 31 HP:0001898
39 increased hemoglobin 31 HP:0001900

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Cardiovascular Vascular:
cerebral ischemia
budd-chiari syndrome
thrombosis
thromboembolic events

Abdomen Gastrointestinal:
gastrointestinal bleeding

Laboratory Abnormalities:
normal or decreased serum erythropoietin (epo, )
increased prv-1 mrna
erythroid colony-forming units show spontaneous growth in the absence of epo
normal arterial oxygen saturation

Hematology:
thrombocytopenia
leukocytosis
thrombocytosis
increased hematocrit
increased red blood cell mass
more
Neurologic Central Nervous System:
cerebral ischemia
cerebral hemorrhage

Cardiovascular Heart:
myocardial ischemia

Clinical features from OMIM:

263300

GenomeRNAi Phenotypes related to Polycythemia Vera according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in CMK cells GR00105-A-0 8.62 JAK1 JAK3

MGI Mouse Phenotypes related to Polycythemia Vera:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.21 CALR EPO EPOR JAK2 JAK3 KIT
2 cardiovascular system MP:0005385 10.2 CALR EPO EPOR F5 JAK1 JAK2
3 hematopoietic system MP:0005397 10.17 CD177 EPO EPOR JAK1 JAK2 JAK3
4 growth/size/body region MP:0005378 10.15 CALR EPOR F5 JAK1 JAK2 KIT
5 homeostasis/metabolism MP:0005376 10.07 CALR EPO EPOR F5 JAK1 JAK2
6 embryo MP:0005380 10.06 CALR EPO EPOR F5 JAK2 KIT
7 immune system MP:0005387 10 CD177 EPO EPOR JAK1 JAK2 JAK3
8 liver/biliary system MP:0005370 9.65 EPO EPOR F5 JAK1 JAK2 KIT
9 mortality/aging MP:0010768 9.47 CALR EPO EPOR F5 JAK1 JAK2

Drugs & Therapeutics for Polycythemia Vera

PubMed Health treatment related to Polycythemia Vera: 62

Polycythemia vera (PV) doesn't have a cure. However, treatments can help control the disease and its complications. PV is treated with procedures, medicines, and other methods. You may need one or more treatments to manage the disease.

Drugs for Polycythemia Vera (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 231)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Panobinostat Approved, Investigational Phase 4 404950-80-7 6918837
2
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
3 Histone Deacetylase Inhibitors Phase 4
4
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
5
Lenalidomide Approved Phase 3 191732-72-6 216326
6
Pipobroman Approved Phase 3 54-91-1 4842
7
Pomalidomide Approved Phase 3 19171-19-8
8
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
9
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
10
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 38904 498142
11
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
12
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
13
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
14
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
15
Caspofungin Approved Phase 3 162808-62-0, 179463-17-3 2826718 468682
16
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
17
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
18
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
19
Hydroxyurea Approved Phase 3 127-07-1 3657
20
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
21
Mercaptopurine Approved Phase 3 50-44-2 667490
22
Danazol Approved Phase 3 17230-88-5 28417
23
Melphalan Approved Phase 3 148-82-3 460612 4053
24
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
25
tannic acid Approved Phase 3 1401-55-4
26
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
27
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
28
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
29 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
30 Anesthetics, Dissociative Phase 3
31 Hormones Phase 3
32 Angiogenesis Inhibitors Phase 3
33 Neurotransmitter Agents Phase 3
34 Analgesics Phase 3
35 Anti-Infective Agents Phase 3
36 Androgens Phase 3
37 Anti-Bacterial Agents Phase 3
38 Antifungal Agents Phase 3
39 Liver Extracts Phase 3
40 Etoposide phosphate Phase 2, Phase 3
41 Cola Phase 3
42 Analgesics, Opioid Phase 3
43 Psychotropic Drugs Phase 3
44 Anti-Anxiety Agents Phase 3
45 Antipsychotic Agents Phase 3
46 Antiprotozoal Agents Phase 3
47 Antiparasitic Agents Phase 3
48 Excitatory Amino Acid Antagonists Phase 3
49 Narcotics Phase 3
50 Anesthetics Phase 3

Interventional clinical trials:

(show top 50) (show all 294)
# Name Status NCT ID Phase Drugs
1 Open Label, Multi-center, Phase IV Study of Ruxolitinib or Ruxolitinib and Panobinostat Combination, for Patients Who Have Completed Prior Global Novartis or Incyte Sponsored Studies Recruiting NCT02386800 Phase 4 ruxolitinib tablets or oral pediatric formulation, panobinostat capsules;ruxolitinib tablets or oral pediatric formulation
2 A Randomized Double-Blind Controlled Trial of Ketamine Versus Placebo in Conjunction With Best Pain Management in Neuropathic Pain in Cancer Patients Unknown status NCT01316744 Phase 3 ketamine hydrochloride
3 A Multicenter, Open-label Clinical Study of the JAK Inhibitor Ruxolitinib (INC424) in Patients With Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis, or Post-essential Thrombocythemia Myelofibrosis Completed NCT02087059 Phase 3 Ruxolitinib
4 Randomized, Open Label, Multicenter Phase IIIb Study Evaluating the Efficacy and Safety of Ruxolitinib Versus Best Available Therapy in Patients With Polycythemia Vera Who Are Hydroxyurea Resistant or Intolerant (Response 2) Completed NCT02038036 Phase 3 Best Available Therapy;ruxolitinib
5 An Open-label, Multi-center, Expanded Treatment Protocol (ETP) of Ruxolitinib in Patients With Polycythemia Vera Who Are Hydroxyurea Resistant or Intolerant and for Whom no Treatment Alternatives Are Available. Completed NCT02292446 Phase 3 Ruxolitinib
6 Randomized, Open Label, Multicenter Phase III Study of Efficacy and Safety in Polycythemia Vera Subjects Who Are Resistant to or Intolerant of Hydroxyurea: JAK Inhibitor INC424 Tablets Versus Best Available Care (The RESPONSE Trial) Completed NCT01243944 Phase 3 ruxolitinib tablets
7 A Randomized Study of Ruxolitinib Tablets Compared to Best Available Therapy in Subjects With Primary Myelofibrosis, Post-Polycythemia Vera-Myelofibrosis or Post-Essential Thrombocythemia Myelofibrosis Completed NCT00934544 Phase 3 Ruxolitinib;Best Available Therapy (BAT)
8 A Randomized, Double-blind, Placebo-controlled Study of the JAK Inhibitor INCB018424 Tablets Administered Orally to Subjects With Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis or Post-Essential Thrombocythemia Myelofibrosis Completed NCT00952289 Phase 3 Ruxolitinib;Placebo
9 A Phase 3, Randomized, Double-blind Active-controlled Study Evaluating Momelotinib vs. Ruxolitinib in Subjects With Primary Myelofibrosis (PMF) or Post-Polycythemia Vera or Post-Essential Thrombocythemia Myelofibrosis (Post-PV/ET MF) Completed NCT01969838 Phase 3 Momelotinib;Ruxolitinib;Placebo to match momelotinib;Placebo to match ruxolitinib
10 A Phase 3, Randomized Study To Evaluate the Efficacy of Momelotinib Versus Best Available Therapy in Anemic or Thrombocytopenic Subjects With Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis, or Post-essential Thrombocythemia Myelofibrosis Who Were Treated With Ruxolitinib Completed NCT02101268 Phase 3 Momelotinib;Best Available Therapy (BAT)
11 An Open-label, Single Arm, Phase III Study to Assess the Self-administration of AOP2014 Using a Pre-filled Pen, Developed for the Treatment of Polycythemia Vera Patients Completed NCT02523638 Phase 3 Pegylated-Proline-Interferon alpha-2b in a Pre-filled Pen
12 Polycythemia Vera Symptom Study Evaluating Ruxolitinib Versus Hydroxyurea in a Randomized, Multicenter, Double-Blind, Double-Dummy, Phase 3 Efficacy and Safety Study of Patient Reported Outcomes Completed NCT01632904 Phase 3 Ruxolitinib;Hydroxyurea (HU);HU-placebo;Ruxolitinib-placebo
13 Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea Therapy in the Treatment of High Risk Polycythemia Vera (PV) and High Risk Essential Thrombocythemia (ET) Completed NCT01259856 Phase 3 PEGASYS;Hydroxyurea;Aspirin
14 A Randomized, Open-label, Multicenter, Controlled, Parallel Arm, Phase III Study Assessing the Efficacy and Safety of AOP2014 vs. Hydroxyurea in Patients With Polycythemia Vera Completed NCT01949805 Phase 3 Peg-P-IFN-alpha-2b (AOP2014);Hydroxyurea
15 A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled, 3-Arm Study of SAR302503 in Patients With Intermediate-2 or High-Risk Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis With Splenomegaly Completed NCT01437787 Phase 3 SAR302503;Placebo
16 A Phase-3, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Compare Efficacy and Safety of Pomalidomide in Subjects With Myeloproliferative Neoplasm-Associated Myelofibrosis and Red Blood Cell-Transfusion-Dependence Completed NCT01178281 Phase 3 Pomalidomide 0.5 mg;Placebo;Pomalidomide
17 Phase III, Randomized, Double-Blind, Placebo-Controlled Crossover Trial of Ondansetron in the Control of Chronic Nausea and Vomiting Not Due to Antineoplastic Therapy in Patients With Advanced Cancer Completed NCT00006348 Phase 3 ondansetron
18 Allogeneic Blood or Marrow Transplantation for Hematologic Malignancy and Aplastic Anemia Completed NCT00003816 Phase 2, Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
19 A Phase III Double-Blind Equivalence Study of Two Different Formulations of Slow-Release Morphine Followed by a Randomization Between Dextromethorphan or Placebo Plus Statex SR for Chronic Cancer Pain Relief in Terminally Ill Patients Completed NCT00003687 Phase 3 dextromethorphan hydrobromide;morphine sulfate
20 Does Hypericum Reduce Fatigue in Cancer Patients on Chemotherapy? A Randomized, Double-Blind, Placebo-Controlled Clinical Trial Completed NCT00005805 Phase 3
21 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
22 A Strategic Study to Determine the Optimal Moment to Initiate Systemic Antifungal Therapy With Ambisome in Granulocytopenic Cancer Patients With Unexplained Fever Refractory to Empirical Antibacterials Completed NCT00003938 Phase 3 liposomal amphotericin B
23 A Multicenter, Double-Blind, Randomized, Comparative Study To Evaluate The Safety, Tolerability, And Efficacy Of MK-0991 Versus (Amphotericin B) Liposome For Injection As Empirical Therapy In Patients With Persistent Fever And Neutropenia Completed NCT00008359 Phase 3 caspofungin acetate;liposomal amphotericin B
24 The Use of American Ginseng (Panax Quinquefolius) to Improve Cancer-Related Fatigue: A Randomized, Double-Blind, Placebo-Controlled Phase III Study Completed NCT00719563 Phase 3 American ginseng
25 Phase III Randomized Trial of an Opioid Titration Order Sheet Compared to Standard of Care in Patients With Cancer Related Pain. Completed NCT00666211 Phase 3
26 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
27 A Phase 3b, Multicenter, Single-arm, Open-label Safety AND Efficacy Study of Fedratinib in Subjects With DIPSS-Intermediate or High-Risk Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis Recruiting NCT03755518 Phase 3 FEDRATINIB
28 A Phase III, Randomised, Open-label, Multicenter International Trial Comparing Ruxolitinib With Either HydRoxycarbamIDe or Interferon Alpha as First Line ThErapy for High Risk Polycythemia Vera Recruiting NCT04116502 Phase 3 Ruxolitinib;Hydroxycarbamide;Interferon-Alpha
29 A Phase 3, Multicenter, Open-label, Randomized Study to Evaluate the Efficacy and Safety of Fedratinib Compared to Best Available Therapy (BAT) in Subjects With DIPSS (Dynamic International Prognostic Scoring System)-Intermediate or High-risk Primary Myelofibrosis (PMF), Post-polycythemia Vera Myelofibrosis (Post-PV MF), or Post-essential Thrombocythemia Myelofibrosis (Post-ET MF) and Previously Treated With Ruxolitinib Recruiting NCT03952039 Phase 3 FEDRATINIB;Best Available Therapy (BAT)
30 A Randomized, Controlled Phase 3 Study of Pacritinib Versus Physician's Choice in Patients With Primary Myelofibrosis, Post Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis With Severe Thrombocytopenia (Platelet Count <50,000/μL)(PACIFICA) Recruiting NCT03165734 Phase 3 Pacritinib;Physician's Choice medications
31 A Randomized, Double-Blind, Phase 3 Study of Momelotinib vs Danazol in Symptomatic, Anemic Subjects With Previously JAKi Treated Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post Essential Thrombocythemia Myelofibrosis Recruiting NCT04173494 Phase 3 Momelotinib;Danazol;Placebo to match momelotinib;Placebo to match danazol
32 French Aspirin Study in Essential Thrombocythemia: an Open and Randomized Study Recruiting NCT02611973 Phase 3 Hydroxyurea treatment (HU)
33 An Open-label, Multicenter, Phase IIIb Study Assessing the Long-term Efficacy and Safety of AOP2014 and Standard First Line Treatment (BAT) in Patients With Polycythemia Vera Who Previously Participated in the PROUD-PV Study Active, not recruiting NCT02218047 Phase 3 Pegylated-Proline-interferon alpha-2b;Best available therapy (BAT)
34 Danish Study of Low-dose Interferon Alpha Versus Hydroxyurea in the Treatment of Philadelphia Chromosome Negative (Ph-)Chronic Myeloid Neoplasms. Active, not recruiting NCT01387763 Phase 3 PegIntron;Pegasys;PegIntron;Pegasys;Hydrea
35 Safety and Efficacy of Ruxolitinib for COVID-19 Not yet recruiting NCT04348071 Phase 2, Phase 3 Ruxolitinib
36 A Randomized Controlled Phase 3 Study of Oral Pacritinib Versus Best Available Therapy in Patients With Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis Terminated NCT01773187 Phase 3 Pacritinib;Best Available Therapy
37 A Randomized Controlled Phase 3 Study of Oral Pacritinib Versus Best Available Therapy in Patients With Thrombocytopenia and Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis Terminated NCT02055781 Phase 3 Pacritinib;Best Available Therapy
38 A Large-scale Trial Testing the Intensity of CYTOreductive Therapy to Prevent Cardiovascular Events In Patients With Polycythemia Vera (PV) Terminated NCT01645124 Phase 3 Hydroxyurea
39 A Phase I/II Trial of Ruxolitinib in Chronic Lymphocytic Leukemia Patients at Risk for Progression on Ibrutinib Unknown status NCT02912754 Phase 1, Phase 2 ruxolitinib;ibrutinib
40 A Phase II Study of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia. Unknown status NCT00866762 Phase 2 HDAC inhibitor (MK-0683)
41 A Phase I/II Open Label Study of LBH589, a Novel Histone Deacetylase Inhibitor (HDACi), in Patients With Primary Myelofibrosis (PMF) and Post-polycythemia/Essential Thrombocythemia Myelofibrosis (Post-PV/ET MF) Unknown status NCT01298934 Phase 1, Phase 2 LBH589
42 A Multicenter, Open Label Phase I/II Study of CEP-701 (Lestaurtinib) in Adults With Myelofibrosis Unknown status NCT00668421 Phase 1, Phase 2 CEP-701 (Lestaurtinib)
43 Open-label Study to Assess the Long-term Safety and Efficacy of Momelotinib in Subjects With Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis, Post Essential Thrombocythemia Myelofibrosis, Polycythemia Vera or Essential Thrombocythemia Completed NCT02124746 Phase 2 Momelotinib
44 An Open-Label Study of Oral CEP-701 in Patients With Polycythemia Vera or Essential Thrombocytosis With the JAK2 V617F Mutation Completed NCT00586651 Phase 2 lestaurtinib
45 A Phase II Trial of the Treatment of Polycythemia Vera With Gleevec Completed NCT01120821 Phase 2 Gleevec
46 Glivec (Imatinib Mesylate) in the Treatment of Polycythemia Vera Completed NCT00430066 Phase 2 Imatinib Mesylate
47 Phase II Trial of Oral Panobinostat (LBH589), a Novel Deacetylase Inhibitor (DACi) in Patients With Primary Myelofibrosis (PMF), Post Essential Thrombocythemia (ET) Myelofibrosis and Post- Polycythemia Vera (PV) Myelofibrosis Completed NCT00931762 Phase 2 Panobinostat
48 A Multi-national Open-label Phase II Study of the JAK Inhibitor INC424 in Patients With Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis or Post-essential Thrombocythemia Myelofibrosis Completed NCT01392443 Phase 2 Ruxolitinib
49 A Phase 2, Open-label, Translational Biology Study of Momelotinib in Transfusion-Dependent Subjects With Primary Myelofibrosis (PMF) or Post-polycythemia Vera or Post-essential Thrombocythemia Myelofibrosis (Post-PV/ET MF) Completed NCT02515630 Phase 2 MMB
50 A Phase 2, Prospective, Open-Label Study to Determine the Safety and Efficacy of SB939, A Histone Deacetylase Inhibitor, in Subjects With Primary, Post-Polycythemia Vera, or Post-Essential Thrombocythemia Myelofibrosis (PMF; Post-Polycythemia Vera (PV) Myelofibrosis (MF), Or Post- Essential Thrombosis (ET) MF Completed NCT01200498 Phase 2 SB939

Search NIH Clinical Center for Polycythemia Vera

Inferred drug relations via UMLS 71 / NDF-RT 50 :


anagrelide
Anagrelide hydrochloride
Busulfan
hydroxyurea
Interferon Alfa-2b
Pipobroman
ruxolitinib
Uracil Mustard

Cochrane evidence based reviews: polycythemia vera

Genetic Tests for Polycythemia Vera

Genetic tests related to Polycythemia Vera:

# Genetic test Affiliating Genes
1 Polycythemia Vera 29 JAK2

Anatomical Context for Polycythemia Vera

MalaCards organs/tissues related to Polycythemia Vera:

40
Myeloid, Bone, Bone Marrow, Heart, Lung, Skin, Brain

Publications for Polycythemia Vera

Articles related to Polycythemia Vera:

(show top 50) (show all 4786)
# Title Authors PMID Year
1
The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. 6 56 61
19293426 2009
2
A gain-of-function mutation of JAK2 in myeloproliferative disorders. 6 56 61
15858187 2005
3
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. 56 6
15793561 2005
4
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. 6 56
15781101 2005
5
The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. 6 61 54
16603627 2006
6
The JAK2 V617F mutation in de novo acute myelogenous leukemias. 6 61 54
16247455 2006
7
Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment. 56 54 61
15599750 2005
8
Effect of mutation order on myeloproliferative neoplasms. 6 61
25671252 2015
9
Two clinical phenotypes in polycythemia vera. 61 56
25162887 2014
10
Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes. 56 61
24413320 2014
11
Congenital JAK2V617F polycythemia vera: where does the genotype-phenotype diversity end? 61 56
18988882 2008
12
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. 61 6
16762626 2006
13
Polycythemia vera and other primary polycythemias. 56 61
15725900 2005
14
Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease. 56 61
12829587 2003
15
Familial polycythemia vera with Budd-Chiari syndrome in childhood. 56 61
14531919 2003
16
Gain of 9p in the pathogenesis of polycythemia vera. 61 56
9669670 1998
17
Familial polycythemia vera. 56 61
2691118 1989
18
Polycythemia vera in identical twins. 56 61
7196151 1981
19
The familial occurrence of polycythemia vera: report of a father and son, with consideration of the possible etiologic role of exposure to organic solvents, including tetrachloroethylene. 56 61
7397379 1980
20
Polycythemia vera with Ph-1 chromosomes in two brothers. 61 56
6054665 1967
21
Radioactive phosphorus in the treatment of primary polycythemia (vera). 61 56
13359507 1956
22
Neuropathy of haematopoietic stem cell niche is essential for myeloproliferative neoplasms. 6
25043017 2014
23
MPN patients harbor recurrent truncating mutations in transcription factor NF-E2. 56
23589569 2013
24
Mesenchymal and haematopoietic stem cells form a unique bone marrow niche. 6
20703299 2010
25
Mutation in TET2 in myeloid cancers. 56
19474426 2009
26
No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage. 6
19036091 2009
27
Haematopoietic stem cell release is regulated by circadian oscillations. 6
18256599 2008
28
Regulated expression of microRNAs in normal and polycythemia vera erythropoiesis. 46 61
17976518 2007
29
JAK2 V617F mutation in unexplained loss of first pregnancy. 6
17989398 2007
30
Case records of the Massachusetts General Hospital. Case 15-2006. A 46-year-old woman with sudden onset of abdominal distention. 6
16707754 2006
31
Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. 6
16325696 2005
32
Familial polycythaemia vera: a study of 3 sisters. 56
959770 1976
33
Familial occurrence of polycythemia and leukemia. 56
14772666 1950
34
Interferon-alpha targets JAK2V617F-positive hematopoietic progenitor cells and acts through the p38 MAPK pathway. 61 54
20303384 2010
35
Bone marrow morphologic features in polycythemia vera with JAK2 exon 12 mutations. 61 54
20472853 2010
36
Mutational analysis in BCR-ABL-negative classic myeloproliferative neoplasms: impact on prognosis and therapeutic choices. 61 54
20214447 2010
37
Conditional expression of heterozygous or homozygous Jak2V617F from its endogenous promoter induces a polycythemia vera-like disease. 54 61
20197548 2010
38
Molecular markers guide diagnosis and treatment in Philadelphia chromosome-negative myeloproliferative disorders (Review). 61 54
20126996 2010
39
Narrative review: Thrombocytosis, polycythemia vera, and JAK2 mutations: The phenotypic mimicry of chronic myeloproliferation. 54 61
20194236 2010
40
JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms. 54 61
19643476 2010
41
Interlaboratory development and validation of a HRM method applied to the detection of JAK2 exon 12 mutations in polycythemia vera patients. 54 61
20126644 2010
42
Prodromal myeloproliferative neoplasms: the 2008 WHO classification. 61 54
19844986 2010
43
Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation. 54 61
20013324 2010
44
A novel zebrafish jak2a(V581F) model shared features of human JAK2(V617F) polycythemia vera. 61 54
19772888 2009
45
The JAK2V617 mutation induces constitutive activation and agonist hypersensitivity in basophils from patients with polycythemia vera. 54 61
19608683 2009
46
In essential thrombocythemia, multiple JAK2-V617F clones are present in most mutant-positive patients: a new disease paradigm. 61 54
19541820 2009
47
The 'GGCC' haplotype of JAK2 confers susceptibility to JAK2 exon 12 mutation-positive polycythemia vera. 54 61
19440215 2009
48
[50-year-old woman with elevated haemoglobin and iron deficiency]. 61 54
19844282 2009
49
[Erythropoietin: indications and measurement]. 61 54
19789122 2009
50
Detection of low allele burden of JAK2 exon 12 mutations using TA-cloning in patients with erythrocytosis. 54 61
19491085 2009

Variations for Polycythemia Vera

ClinVar genetic disease variations for Polycythemia Vera:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 JAK2 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe)SNV Pathogenic 14662 rs77375493 9:5073770-5073770 9:5073770-5073770
2 JAK1 NM_002227.4(JAK1):c.1972G>T (p.Val658Phe)SNV Likely pathogenic 376030 rs1057519753 1:65312347-65312347 1:64846664-64846664
3 JAK2 NM_004972.4(JAK2):c.2571+5A>CSNV Likely benign 585092 rs775085241 9:5081866-5081866 9:5081866-5081866

UniProtKB/Swiss-Prot genetic disease variations for Polycythemia Vera:

73
# Symbol AA change Variation ID SNP ID
1 JAK2 p.Val617Phe VAR_032697 rs77375493

Expression for Polycythemia Vera

Search GEO for disease gene expression data for Polycythemia Vera.

Pathways for Polycythemia Vera

Pathways related to Polycythemia Vera according to GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.1 TYK2 STAT5A STAT3 KITLG KIT JAK3
2
Show member pathways
13.88 THPO STAT5A STAT3 KITLG KIT JAK3
3
Show member pathways
13.77 THPO STAT5A STAT3 KITLG KIT JAK3
4
Show member pathways
13.71 TYK2 THPO STAT5A STAT3 MPL KIT
5
Show member pathways
13.46 THPO STAT5A STAT3 KITLG KIT JAK3
6
Show member pathways
13.41 THPO MPL JAK3 JAK2 JAK1 IL3
7
Show member pathways
13.41 TYK2 STAT5A STAT3 KITLG KIT JAK3
8
Show member pathways
13.4 TYK2 THPO STAT5A STAT3 MPL KITLG
9
Show member pathways
13.15 TYK2 STAT5A STAT3 JAK3 JAK2 JAK1
10
Show member pathways
13.14 TYK2 THPO STAT3 KITLG KIT JAK2
11
Show member pathways
13.01 TYK2 STAT3 JAK2 JAK1 IFNA1 CALR
12
Show member pathways
12.97 TYK2 KITLG KIT JAK3 JAK2 JAK1
13
Show member pathways
12.91 STAT5A STAT3 JAK3 JAK2 CALR
14
Show member pathways
12.9 STAT3 JAK3 JAK2 JAK1 EPOR
15
Show member pathways
12.9 STAT5A STAT3 KIT JAK1 IL3
16
Show member pathways
12.9 KITLG KIT JAK2 EPOR EPO
17
Show member pathways
12.88 TYK2 STAT5A STAT3 JAK3 JAK2 JAK1
18 12.84 TYK2 JAK2 JAK1 IFNA1 CALR
19
Show member pathways
12.84 TYK2 THPO STAT5A STAT3 MPL JAK3
20 12.72 STAT5A STAT3 KITLG KIT JAK3 JAK2
21
Show member pathways
12.71 TYK2 STAT5A STAT3 JAK3 JAK2 JAK1
22
Show member pathways
12.66 TYK2 STAT5A STAT3 JAK2 JAK1
23
Show member pathways
12.51 STAT5A STAT3 JAK2 JAK1
24
Show member pathways
12.49 THPO STAT5A STAT3 KITLG KIT IL3
25
Show member pathways
12.48 TYK2 STAT5A STAT3 JAK3 JAK2 JAK1
26
Show member pathways
12.44 STAT3 JAK3 JAK2 JAK1
27
Show member pathways
12.41 TYK2 STAT3 JAK3 JAK2 JAK1
28
Show member pathways
12.4 TYK2 STAT5A STAT3 JAK3 JAK2 JAK1
29 12.39 STAT5A JAK3 JAK1 CALR
30 12.36 STAT5A STAT3 JAK3 JAK1
31
Show member pathways
12.33 TYK2 THPO KITLG KIT JAK1 IL3
32
Show member pathways
12.32 TYK2 STAT3 JAK2 JAK1
33 12.25 STAT5A STAT3 JAK2 JAK1
34
Show member pathways
12.25 TYK2 STAT5A STAT3 JAK3 JAK2 JAK1
35
Show member pathways
12.22 JAK3 JAK2 JAK1 IL3
36 12.21 TYK2 STAT5A STAT3 MPL KITLG KIT
37 12.2 TYK2 KITLG KIT JAK2
38
Show member pathways
12.19 STAT5A STAT3 JAK3 JAK2 JAK1
39 12.18 STAT3 JAK3 JAK2 JAK1
40 12.14 THPO STAT3 KITLG IL3
41
Show member pathways
12.11 TYK2 STAT5A STAT3 JAK3 JAK2 JAK1
42 12.08 TYK2 STAT3 JAK3 JAK2 JAK1
43 12.08 THPO MPL KITLG KIT IL3 EPO
44
Show member pathways
12.06 TYK2 STAT5A STAT3 JAK2
45
Show member pathways
12.03 TYK2 STAT5A STAT3 JAK2 JAK1
46
Show member pathways
12.02 STAT5A STAT3 KITLG KIT JAK2 JAK1
47 12 THPO STAT5A STAT3 MPL JAK2
48
Show member pathways
11.99 STAT5A STAT3 JAK2 EPOR EPO
49 11.98 THPO KITLG KIT IL3 EPOR EPO
50
Show member pathways
11.97 STAT3 JAK3 JAK2 JAK1

GO Terms for Polycythemia Vera

Cellular components related to Polycythemia Vera according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.61 THPO KITLG IL3 IFNA1 F5 EPOR
2 extracellular space GO:0005615 9.28 THPO MIR150 KITLG KIT IL3 IFNA1

Biological processes related to Polycythemia Vera according to GeneCards Suite gene sharing:

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.28 THPO STAT5A STAT3 KITLG KIT JAK2
2 phosphorylation GO:0016310 10.11 TYK2 STAT3 KIT JAK3 JAK2 JAK1
3 intracellular signal transduction GO:0035556 10.05 TYK2 KIT JAK3 JAK2 JAK1
4 positive regulation of cell proliferation GO:0008284 10.03 THPO STAT3 KITLG KIT JAK2 IL3
5 MAPK cascade GO:0000165 9.99 KITLG KIT JAK3 JAK2 JAK1 IL3
6 peptidyl-tyrosine phosphorylation GO:0018108 9.95 TYK2 KIT JAK3 JAK2 JAK1
7 blood coagulation GO:0007596 9.94 JAK2 IFNA1 F5 CD177
8 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.89 KIT JAK2 EPOR EPO
9 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.85 KITLG JAK2 IL3
10 B cell differentiation GO:0030183 9.85 KIT JAK3 IFNA1
11 erythrocyte differentiation GO:0030218 9.84 KIT JAK3 JAK2 EPO
12 type I interferon signaling pathway GO:0060337 9.83 TYK2 JAK1 IFNA1
13 interleukin-12-mediated signaling pathway GO:0035722 9.79 TYK2 JAK2 JAK1
14 JAK-STAT cascade GO:0007259 9.78 STAT5A STAT3 JAK2
15 positive regulation of Ras protein signal transduction GO:0046579 9.78 KITLG JAK2 EPOR EPO
16 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.77 STAT3 KIT JAK2 IL3 EPO
17 interleukin-6-mediated signaling pathway GO:0070102 9.76 STAT3 JAK2 JAK1
18 interleukin-7-mediated signaling pathway GO:0038111 9.76 STAT5A STAT3 JAK3 JAK1
19 embryonic hemopoiesis GO:0035162 9.75 KITLG KIT IL3
20 interleukin-35-mediated signaling pathway GO:0070757 9.74 STAT3 JAK2 JAK1
21 interleukin-2-mediated signaling pathway GO:0038110 9.73 STAT5A JAK3 JAK1
22 interleukin-23-mediated signaling pathway GO:0038155 9.7 TYK2 STAT3 JAK2
23 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.68 JAK2 JAK1
24 growth hormone receptor signaling pathway GO:0060396 9.67 STAT3 JAK2
25 regulation of JAK-STAT cascade GO:0046425 9.67 JAK3 JAK2
26 interleukin-21-mediated signaling pathway GO:0038114 9.67 STAT3 JAK3 JAK1
27 postsynapse to nucleus signaling pathway GO:0099527 9.66 STAT3 JAK2
28 tyrosine phosphorylation of STAT protein GO:0007260 9.66 JAK3 JAK2
29 enzyme linked receptor protein signaling pathway GO:0007167 9.65 JAK3 JAK2
30 ectopic germ cell programmed cell death GO:0035234 9.64 KITLG KIT
31 positive regulation of hematopoietic stem cell proliferation GO:1902035 9.63 THPO KITLG
32 thrombopoietin-mediated signaling pathway GO:0038163 9.62 THPO MPL
33 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.62 STAT5A STAT3 JAK3 JAK2
34 positive regulation of growth factor dependent skeletal muscle satellite cell proliferation GO:1902728 9.6 STAT3 JAK2
35 erythropoietin-mediated signaling pathway GO:0038162 9.58 KIT EPOR EPO
36 interleukin-15-mediated signaling pathway GO:0035723 9.56 STAT5A STAT3 JAK3 JAK1
37 interleukin-27-mediated signaling pathway GO:0070106 9.46 TYK2 STAT3 JAK2 JAK1
38 cytokine-mediated signaling pathway GO:0019221 9.36 TYK2 STAT5A STAT3 MPL KIT JAK3
39 interleukin-9-mediated signaling pathway GO:0038113 9.26 STAT5A STAT3 JAK3 JAK1

Molecular functions related to Polycythemia Vera according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.83 TYK2 KIT JAK3 JAK2 JAK1
2 cytokine activity GO:0005125 9.65 THPO KITLG IL3 IFNA1 EPO
3 protein phosphatase binding GO:0019903 9.58 STAT3 JAK3 JAK1
4 CCR5 chemokine receptor binding GO:0031730 9.37 STAT3 JAK1
5 growth hormone receptor binding GO:0005131 9.33 TYK2 JAK2 JAK1
6 type 1 angiotensin receptor binding GO:0031702 9.32 TYK2 JAK2
7 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.26 TYK2 JAK3 JAK2 JAK1
8 protein tyrosine kinase activity GO:0004713 9.02 TYK2 KIT JAK3 JAK2 JAK1

Sources for Polycythemia Vera

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....