PV
MCID: PLY125
MIFTS: 63

Polycythemia Vera, Somatic (PV) malady

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

Aliases & Classifications for Polycythemia Vera, Somatic

Aliases & Descriptions for Polycythemia Vera, Somatic:

Name: Polycythemia Vera, Somatic 54 38
Polycythemia Vera 54 12 50 24 25 56 66 29 13 52 42 14 69
Pv 50 25 56 66
Polycythemia Rubra Vera 50 56 66
Osler-Vaquez Disease 25 56 66
Prv 50 25 66
Primary Polycythemia 50 25
Acquired Primary Erythrocytosis 56
Proliferative Polycythaemia 12
Polycythaemia Rubra Vera 12
Polycythemia Ruba Vera 25
Osler-Vaquez Syndrome 12
Vaquez Disease 56

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
polycythemia vera, somatic:
Inheritance autosomal dominant inheritance somatic mutation sporadic


Classifications:



External Ids:

OMIM 54 263300
Disease Ontology 12 DOID:8997
ICD10 33 D45
ICD9CM 35 238.4
MeSH 42 D011087
NCIt 47 C3336
Orphanet 56 ORPHA729
MESH via Orphanet 43 D011087
ICD10 via Orphanet 34 D45
UMLS via Orphanet 70 C0032463
MedGen 40 C0032463
UMLS 69 C0032463

Summaries for Polycythemia Vera, Somatic

NIH Rare Diseases : 50 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. last updated: 2/11/2017

MalaCards based summary : Polycythemia Vera, Somatic, also known as polycythemia vera, is related to myeloproliferative neoplasm and poems syndrome, and has symptoms including pruritus, arthralgia and fatigue. An important gene associated with Polycythemia Vera, Somatic is JAK2 (Janus Kinase 2), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Lactitol and Ketamine have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and myeloid, and related phenotypes are Decreased viability in HMC1.1 cells and cellular

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 cell fragments 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.

OMIM : 54 Polycythemia vera, the most common form of primary polycythemia, is caused by somatic mutation in a single... (263300) more...

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Polycythemia Vera, Somatic

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

(show top 50) (show all 203)
id Related Disease Score Top Affiliating Genes
1 myeloproliferative neoplasm 32.4 JAK2 MPL THPO
2 poems syndrome 30.2 EPO TET2 THPO
3 polycythemia 11.7
4 psoriasis susceptibility 1 11.4
5 budd-chiari syndrome 11.4
6 primary polycythemia 11.4
7 erythromelalgia 11.4
8 aquagenic pruritus 11.4
9 capillary leak syndrome 11.4
10 persistent vegetative state 11.1
11 pulmonary valve stenosis 10.9
12 psoriasis 14, pustular 10.9
13 essential thrombocythemia 10.9
14 psoriasis susceptibility 13 10.8
15 psoriasis 2 10.8
16 psoriasis, protection against 10.8
17 porphyria variegata 10.8
18 pemphigus vulgaris, familial 10.7
19 plummer vinson syndrome 10.7
20 myelofibrosis 10.7
21 thrombosis 10.5
22 leukemia 10.4
23 osteogenesis imperfecta, type viii 10.3 JAK2 MPL TET2
24 long qt syndrome 10.3 EPO EPOR JAK2
25 pyloric stenosis, infantile hypertrophic, 4 10.3 EPO IL3 JAK2
26 thrombocytopenia, congenital amegakaryocytic 10.3 IL3 MPL THPO
27 acute liver failure 10.3 EPO EPOR JAK2
28 fat necrosis of breast 10.3 JAK1 JAK2 JAK3
29 myofibromatosis, infantile, 1 10.3 IFNA2 PDGFRB
30 ectodermal dysplasia, ectrodactyly, and macular dystrophy 10.3 MPL THPO
31 blood coagulation disease 10.3 EPO MPL THPO
32 ocular hyperemia 10.3 JAK2 MPL THPO
33 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 10.3 JAK2 PDGFRA PDGFRB
34 immunodeficiency 20 10.3 IFNA2 MPL THPO
35 pleomorphic adenoma carcinoma 10.3 JAK1 STAT3 TYK2
36 colorectal adenoma 10.3 JAK2 PDGFRB TET2
37 spondylocostal dysostosis 2 10.3 EPO IFNA2 JAK2 MPL
38 thrombocytosis 10.3
39 congenital disorder of glycosylation, type iq 10.3 IFNA2 KIT TET2
40 cytokine receptor deficiency 10.3 IL3 KITLG THPO
41 invasive mole 10.2 KIT PDGFRA
42 leiomyomatosis 10.2 CD177 KIT
43 malignant epithelial mesothelioma 10.2 IFNA2 KIT PDGFRA
44 dfnb1 10.2 KIT PDGFRA PDGFRB
45 von hippel anomaly 10.2 EPO IL3 JAK2 MPL TET2
46 hyperandrogenism due to cortisone reductase deficiency 10.2 KIT PDGFRA PDGFRB
47 hemangioma of peripheral nerve 10.2 IFNA2 KIT KITLG
48 neuronal ceroid-lipofuscinoses 10.2 EPO EPOR IL3 THPO
49 uremic neuropathy 10.2 KIT KITLG PDGFRA
50 granulomatous hepatitis 10.2 EPO IL3 JAK2 MPL THPO

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



Diseases related to Polycythemia Vera, Somatic

Symptoms & Phenotypes for Polycythemia Vera, Somatic

Symptoms by clinical synopsis from OMIM:

263300

Clinical features from OMIM:

263300

Human phenotypes related to Polycythemia Vera, Somatic:

56 32 (show all 38)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 Occasional (29-5%) HP:0000989
2 arthralgia 56 32 Frequent (79-30%) HP:0002829
3 fatigue 56 32 Frequent (79-30%) HP:0012378
4 headache 56 32 Very frequent (99-80%) HP:0002315
5 vertigo 56 32 Very frequent (99-80%) HP:0002321
6 angina pectoris 56 32 Very frequent (99-80%) HP:0001681
7 abdominal pain 56 32 Very frequent (99-80%) HP:0002027
8 respiratory insufficiency 56 32 Frequent (79-30%) HP:0002093
9 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
10 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
11 portal hypertension 56 32 Occasional (29-5%) HP:0001409
12 pulmonary embolism 56 32 Occasional (29-5%) HP:0002204
13 myelodysplasia 56 32 Very frequent (99-80%) HP:0002863
14 weight loss 56 32 Very frequent (99-80%) HP:0001824
15 gastrointestinal hemorrhage 56 32 Occasional (29-5%) HP:0002239
16 epistaxis 56 32 Very frequent (99-80%) HP:0000421
17 bruising susceptibility 56 32 Very frequent (99-80%) HP:0000978
18 gingival bleeding 56 32 Very frequent (99-80%) HP:0000225
19 acute leukemia 56 32 Very frequent (99-80%) HP:0002488
20 stroke 56 32 Occasional (29-5%) HP:0001297
21 arterial thrombosis 56 32 Occasional (29-5%) HP:0004420
22 tinnitus 56 32 Very frequent (99-80%) HP:0000360
23 intermittent claudication 56 32 Occasional (29-5%) HP:0004417
24 myelofibrosis 56 32 Very frequent (99-80%) HP:0011974
25 budd-chiari syndrome 56 32 Occasional (29-5%) HP:0002639
26 portal vein thrombosis 56 32 Occasional (29-5%) HP:0030242
27 hypertension 56 Very frequent (99-80%)
28 thromboembolism 32 HP:0001907
29 thrombocytopenia 32 HP:0001873
30 venous thrombosis 56 Occasional (29-5%)
31 cerebral ischemia 32 HP:0002637
32 thrombocytosis 32 HP:0001894
33 leukocytosis 32 HP:0001974
34 cerebral hemorrhage 32 HP:0001342
35 increased megakaryocyte count 32 HP:0005513
36 increased hematocrit 32 HP:0001899
37 increased red blood cell mass 32 HP:0001898
38 increased hemoglobin 32 HP:0001900

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in HMC1.1 cells GR00105-A-0 8.8 JAK1 JAK3 KIT

MGI Mouse Phenotypes related to Polycythemia Vera, Somatic:

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.41 JAK3 KIT KITLG MPL PDGFRA PDGFRB
2 hematopoietic system MP:0005397 10.41 PDGFRB SOCS3 STAT3 STAT5A TET2 THPO
3 immune system MP:0005387 10.36 CD177 CSF3R EPO EPOR JAK1 JAK2
4 growth/size/body region MP:0005378 10.29 JAK2 KIT KITLG MPL PDGFRA PDGFRB
5 homeostasis/metabolism MP:0005376 10.28 EPO EPOR JAK1 JAK2 KIT KITLG
6 cardiovascular system MP:0005385 10.25 EPO EPOR JAK1 KIT KITLG PDGFRA
7 embryo MP:0005380 10.21 SOCS3 STAT3 EPO EPOR JAK2 KIT
8 endocrine/exocrine gland MP:0005379 10.19 JAK1 JAK2 JAK3 KIT KITLG PDGFRA
9 mortality/aging MP:0010768 10.16 KITLG MPL PDGFRA PDGFRB SOCS3 STAT3
10 digestive/alimentary MP:0005381 10.07 JAK3 KIT KITLG PDGFRA PDGFRB SOCS3
11 integument MP:0010771 10.07 EPO JAK1 JAK2 KIT KITLG PDGFRA
12 liver/biliary system MP:0005370 10.02 KITLG SOCS3 STAT3 STAT5A TET2 EPO
13 normal MP:0002873 9.9 EPO EPOR JAK1 JAK2 KIT PDGFRA
14 respiratory system MP:0005388 9.5 EPO EPOR JAK1 KIT PDGFRA SOCS3
15 skeleton MP:0005390 9.32 STAT3 TYK2 EPO JAK1 JAK2 KIT

Drugs & Therapeutics for Polycythemia Vera, Somatic

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

(show top 50) (show all 263)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lactitol Phase 4 585-86-4 3871
2
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
3
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1 55-98-1 2478
4
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 498142 38904
5
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1 50-18-0, 6055-19-2 2907
6
Fludarabine Approved Phase 2, Phase 3, Phase 1 21679-14-1, 75607-67-9 30751
7
Hydroxyurea Approved Phase 3,Phase 2,Phase 1 127-07-1 3657
8
Peginterferon alfa-2b Approved Phase 3,Phase 1,Phase 2 99210-65-8, 215647-85-1
9
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
10
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
11
Caspofungin Approved Phase 3,Phase 2 179463-17-3, 162808-62-0 468682 2826718
12
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
13
Ondansetron Approved Phase 3,Phase 1,Phase 2 99614-02-5 4595
14
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
15
Guaifenesin Approved, Vet_approved Phase 3 93-14-1 3516
16
Morphine Approved, Investigational Phase 3 57-27-2 5288826
17
Anagrelide Approved Phase 3,Phase 2 68475-42-3 2182
18
Aspirin Approved, Vet_approved Phase 3,Phase 2 50-78-2 2244
19
Peginterferon alfa-2a Approved, Investigational Phase 3,Phase 2,Phase 1 198153-51-4 5360545
20
Lenalidomide Approved Phase 3,Phase 2 191732-72-6 216326
21 Pomalidomide Approved Phase 3,Phase 1,Phase 2 19171-19-8
22
Etoposide Approved Phase 2, Phase 3,Phase 1 33419-42-0 36462
23
Melphalan Approved Phase 2, Phase 3, Phase 1 148-82-3 4053 460612
24
Thiotepa Approved Phase 2, Phase 3,Phase 1 52-24-4 5453
25
Benzocaine Approved Phase 3,Phase 1,Phase 2 1994-09-7, 94-09-7 2337
26
Cytarabine Approved, Investigational Phase 3,Phase 2,Phase 1 147-94-4 6253
27
Danazol Approved Phase 3,Phase 2 17230-88-5 28417
28
Iron Approved Phase 3,Phase 1,Phase 2 7439-89-6 23925
29
Ginseng Approved, Nutraceutical Phase 3 50647-08-0
30 tannic acid Approved, Nutraceutical Phase 3,Phase 1,Phase 2
31 Analgesics Phase 3,Phase 2,Phase 1
32 Anesthetics Phase 3
33 Anesthetics, Dissociative Phase 3
34 Anesthetics, General Phase 3
35 Anesthetics, Intravenous Phase 3
36 Central Nervous System Depressants Phase 3,Phase 1,Phase 2
37 Excitatory Amino Acid Antagonists Phase 3
38 Excitatory Amino Acids Phase 3
39 Neurotransmitter Agents Phase 3,Phase 2
40 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
41 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1
42 Anti-Bacterial Agents Phase 3,Phase 1,Phase 2
43 Dermatologic Agents Phase 3,Phase 2,Phase 1
44 Antirheumatic Agents Phase 3,Phase 2,Phase 1
45 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
46 Alkylating Agents Phase 2, Phase 3,Phase 1
47 Antilymphocyte Serum Phase 2, Phase 3,Phase 1
48 Antimetabolites Phase 2, Phase 3,Phase 1
49 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 1
50 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 236)
id Name Status NCT ID Phase
1 CINC424A2X01B Rollover Protocol Recruiting NCT02386800 Phase 4
2 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3
3 Randomized Switch Study From Hydroxyurea to Ruxolitinib for RELIEF of Polycythemia Vera Symptoms: The Relief Study Completed NCT01632904 Phase 3
4 Pegylated Interferon Alpha-2b Versus Hydroxyurea in Polycythemia Vera Completed NCT01949805 Phase 3
5 Study to Assess the Self-administration of AOP2014 Using a Pen, Developed for the Treatment of Polycythemia Vera Patients Completed NCT02523638 Phase 3
6 A Clinical Study of Ruxolitinib in Patients With Primary Myelofibrosis (PM), Post-polycythemia Vera (PV) Myelofibrosis, or Post-essential Thrombocythemia (ET) Myelofibrosis Completed NCT02087059 Phase 3
7 COntrolled MyeloFibrosis Study With ORal JAK Inhibitor Treatment: The COMFORT-I Trial Completed NCT00952289 Phase 3
8 Controlled Myelofibrosis Study With Oral Janus-associated Kinase (JAK) Inhibitor Treatment-II: The COMFORT-II Trial Completed NCT00934544 Phase 3
9 Phase III Study of SAR302503 in Intermediate-2 and High Risk Patients With Myelofibrosis Completed NCT01437787 Phase 3
10 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
11 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3
12 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
13 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3
14 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3
15 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3
16 St. John's Wort in Relieving Fatigue in Patients Undergoing Chemotherapy or Hormone Therapy for Cancer Completed NCT00005805 Phase 3
17 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3
18 Treatment for Chronic Pain in Patients With Advanced Cancer Completed NCT00003687 Phase 3
19 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. Recruiting NCT02292446 Phase 3
20 The Ruxo-BEAT Trial in Patients With High-risk Polycythemia Vera or High-risk Essential Thrombocythemia Recruiting NCT02577926 Phase 3
21 Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea in Polycythemia Vera (PV) and Essential Thrombocythemia (ET) Active, not recruiting NCT01259856 Phase 3
22 Ruxolitinib Efficacy and Safety in Patients With HU Resistant or Intolerant Polycythemia Vera vs Best Available Therapy. Active, not recruiting NCT02038036 Phase 3
23 AOP2014 vs. BAT in Patients With Polycythemia Vera Who Previously Participated in the PROUD-PV Study. Active, not recruiting NCT02218047 Phase 3
24 Study of Efficacy and Safety in Polycythemia Vera Subjects Who Are Resistant to or Intolerant of Hydroxyurea: JAK Inhibitor INC424 (INCB018424) Tablets Versus Best Available Care: (The RESPONSE Trial) Active, not recruiting NCT01243944 Phase 3
25 Efficacy of Momelotinib Versus Best Available Therapy in Anemic or Thrombocytopenic Subjects With Primary Myelofibrosis (MF), Post-polycythemia Vera MF, or Post-essential Thrombocythemia MF Active, not recruiting NCT02101268 Phase 3
26 Momelotinib Versus Ruxolitinib in Subjects With Myelofibrosis Active, not recruiting NCT01969838 Phase 3
27 A Study of Low Dose Interferon Alpha Versus Hydroxyurea in Treatment of Chronic Myeloid Neoplasms Active, not recruiting NCT01387763 Phase 3
28 Phase-3 Double-Blind, Placebo-Controlled Study of Pomalidomide in Persons With Myeloproliferative-Neoplasm-Associated Myelofibrosis and RBC-Transfusion-Dependence Myelofibrosis and RBC-Transfusion-Dependence Active, not recruiting NCT01178281 Phase 3
29 Combination Chemotherapy and Donor Stem Cell Transplant in Treating Patients With Aplastic Anemia or Hematologic Cancer Active, not recruiting NCT00003816 Phase 2, Phase 3
30 Large-scale Trial Testing the Intensity of CYTOreductive Therapy in Polycythemia Vera (PV) Terminated NCT01645124 Phase 3
31 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis With Thrombocytopenia Terminated NCT02055781 Phase 3
32 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis Terminated NCT01773187 Phase 3
33 A Study of the Efficacy of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia Unknown status NCT00866762 Phase 2
34 CEP-701 (Lestaurtinib) in Myelofibrosis Unknown status NCT00668421 Phase 1, Phase 2
35 LBH589 (Panobinostat) for the Treatment of Myelofibrosis Unknown status NCT01298934 Phase 1, Phase 2
36 Phase II Study of GIVINOSTAT (ITF2357) in Combination With Hydroxyurea in Polycythemia Vera Completed NCT00928707 Phase 2
37 Dasatinib in Polycythemia Vera Completed NCT00538980 Phase 2
38 Efficacy and Safety of Pegylated Interferon Alfa in Polycythemia Vera Completed NCT00241241 Phase 2
39 Treatment of Polycythemia Vera With Gleevec Completed NCT01120821 Phase 2
40 Pegylated Interferon Alfa-2a Salvage Therapy in High Risk Polycythemia Vera (PV) or Essential Thrombocythemia (ET) Completed NCT01259817 Phase 2
41 Effects of Imatinib Mesylate in Polycythemia Vera Completed NCT00430066 Phase 2
42 Open Label Study to Evaluate the Activity of Imetelstat in Patients With Essential Thrombocythemia or Polycythemia Vera Completed NCT01243073 Phase 2
43 Open-Label Study of Oral CEP-701 (Lestaurtinib) in Patients With Polycythemia Vera or Essential Thrombocytosis Completed NCT00586651 Phase 2
44 Open Label Ruxolitinib (INCB018424) in Patients With Myelofibrosis and Post Polycythemia Vera/Essential Thrombocythemia Myelofibrosis Completed NCT00509899 Phase 1, Phase 2
45 Safety Study Evaluating Twice-Daily Administration of Momelotinib in Primary Myelofibrosis or Post-Polycythemia Vera or Post-Essential Thrombocythemia Myelofibrosis Completed NCT01423058 Phase 1, Phase 2
46 Safety and Efficacy Study of CYT387 in Primary Myelofibrosis (PMF) or Post-polycythemia Vera (PV) or Post-essential Thrombocythemia (ET) Completed NCT00935987 Phase 1, Phase 2
47 Extension Study Evaluating the Long Term Safety and Efficacy Study of CYT387 in Primary Myelofibrosis (PMF) or Post-polycythemia Vera (PV) or Post-essential Thrombocythemia (ET) Completed NCT01236638 Phase 2
48 Efficacy and Safety of Simtuzumab in Adults With Primary, Post Polycythemia Vera or Post Essential Thrombocythemia Myelofibrosis Completed NCT01369498 Phase 2
49 Study With SAR302503 in Patients With Polycythemia Vera or Essential Thrombocythemia Completed NCT01420783 Phase 2
50 Safety and Efficacy of Panobinostat in Patients With Primary Myelofibrosis Completed NCT00931762 Phase 2

Search NIH Clinical Center for Polycythemia Vera, Somatic

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: polycythemia vera

Genetic Tests for Polycythemia Vera, Somatic

Genetic tests related to Polycythemia Vera, Somatic:

id Genetic test Affiliating Genes
1 Polycythemia Vera 29 24 JAK2

Anatomical Context for Polycythemia Vera, Somatic

MalaCards organs/tissues related to Polycythemia Vera, Somatic:

39
Heart, Lung, Myeloid, Brain, Bone, Bone Marrow

Publications for Polycythemia Vera, Somatic

Variations for Polycythemia Vera, Somatic

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

66
id Symbol AA change Variation ID SNP ID
1 JAK2 p.Val617Phe VAR_032697 rs77375493

ClinVar genetic disease variations for Polycythemia Vera, Somatic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 JAK2 NM_004972.3(JAK2): c.1849G> T (p.Val617Phe) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs77375493 GRCh37 Chromosome 9, 5073770: 5073770
2 JAK1 NM_002227.3(JAK1): c.1972G> T (p.Val658Phe) single nucleotide variant Likely pathogenic rs1057519753 GRCh37 Chromosome 1, 65312347: 65312347

Expression for Polycythemia Vera, Somatic

Search GEO for disease gene expression data for Polycythemia Vera, Somatic.

Pathways for Polycythemia Vera, Somatic

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

(show top 50) (show all 101)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.15 CD177 CSF3R IFNA2 IL3 JAK1 JAK2
2
Show member pathways
13.98 CSF3R EPOR IL3 JAK1 JAK2 JAK3
3
Show member pathways
13.86 EPOR IL3 JAK1 JAK2 JAK3 KIT
4
Show member pathways
13.63 CSF3R EPO EPOR IFNA2 IL3 JAK2
5
Show member pathways
13.61 IL3 JAK1 JAK2 JAK3 KIT KITLG
6
Show member pathways
13.51 CSF3R EPOR IL3 JAK1 JAK2 JAK3
7
Show member pathways
13.45 CSF3R IFNA2 IL3 JAK1 JAK2 JAK3
8
Show member pathways
13.42 CD177 IFNA2 IL3 JAK1 JAK2 JAK3
9
Show member pathways
13.42 EPO EPOR IFNA2 IL3 JAK1 JAK2
10
Show member pathways
13.41 CSF3R IL3 JAK2 KIT KITLG PDGFRA
11
Show member pathways
13.4 EPOR IL3 KIT KITLG PDGFRA PDGFRB
12
Show member pathways
13.36 EPOR IL3 KIT KITLG PDGFRA PDGFRB
13
Show member pathways
13.29 JAK1 JAK2 JAK3 MPL SOCS3 STAT3
14
Show member pathways
13.17 JAK1 JAK2 JAK3 KIT PDGFRA PDGFRB
15
Show member pathways
13.16 IL3 JAK1 JAK2 KIT KITLG PDGFRA
16
Show member pathways
13.14 IL3 KIT KITLG PDGFRA PDGFRB THPO
17
Show member pathways
13.05 JAK1 JAK2 JAK3 PDGFRA PDGFRB STAT3
18
Show member pathways
13.03 EPO EPOR JAK2 KIT KITLG PDGFRA
19
Show member pathways
13.01 EPOR JAK1 JAK2 JAK3 PDGFRA PDGFRB
20
Show member pathways
12.96 IFNA2 JAK1 JAK2 JAK3 SOCS3 STAT3
21
Show member pathways
12.92 JAK1 JAK2 JAK3 MPL SOCS3 STAT3
22 12.84 CSF3R JAK1 KIT KITLG PDGFRA PDGFRB
23
Show member pathways
12.76 JAK1 JAK2 JAK3 SOCS3 STAT3 STAT5A
24
Show member pathways
12.74 JAK1 JAK2 PDGFRA PDGFRB SOCS3 STAT3
25
Show member pathways
12.64 IFNA2 JAK1 JAK2 SOCS3 TYK2
26
Show member pathways
12.59 JAK1 JAK2 SOCS3 STAT3 STAT5A
27
Show member pathways
12.57 JAK1 JAK2 JAK3 SOCS3 STAT3 STAT5A
28 12.56 IL3 JAK1 JAK2 JAK3 KIT KITLG
29 12.54 JAK1 JAK3 PDGFRA PDGFRB STAT5A
30
Show member pathways
12.51 IL3 JAK1 JAK2 JAK3 STAT3 STAT5A
31
Show member pathways
12.48 IFNA2 JAK1 JAK2 STAT3 STAT5A TYK2
32
Show member pathways
12.47 JAK1 JAK2 JAK3 STAT3
33
Show member pathways
12.47 KIT KITLG PDGFRA PDGFRB
34
Show member pathways
12.43 JAK1 JAK2 JAK3 SOCS3 STAT3 TYK2
35 12.37 JAK1 JAK3 STAT3 TYK2
36 12.37 JAK1 JAK3 STAT3 STAT5A
37
Show member pathways
12.34 JAK1 JAK2 STAT3 TYK2
38
Show member pathways
12.31 IFNA2 IL3 JAK1 SOCS3 TYK2
39
Show member pathways
12.29 EPO EPOR IL3 JAK1 JAK2 KIT
40 12.27 JAK1 JAK2 STAT3 STAT5A
41 12.27 CSF3R EPO EPOR IFNA2 IL3 JAK1
42
Show member pathways
12.26 JAK1 JAK2 JAK3 SOCS3 STAT3 STAT5A
43 12.25 JAK2 KIT KITLG PDGFRA PDGFRB SOCS3
44
Show member pathways
12.24 IL3 JAK1 JAK2 JAK3
45 12.24 IL3 KITLG PDGFRB STAT3 THPO
46
Show member pathways
12.24 CSF3R EPO EPOR IFNA2 IL3 JAK1
47
Show member pathways
12.23 JAK1 PDGFRA PDGFRB STAT3
48 12.23 IFNA2 JAK1 SOCS3 STAT3 TYK2
49 12.19 JAK1 JAK2 JAK3 STAT3
50 12.17 JAK1 JAK2 JAK3 SOCS3 STAT3 TYK2

GO Terms for Polycythemia Vera, Somatic

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

id Name GO ID Score Top Affiliating Genes
1 extrinsic component of cytoplasmic side of plasma membrane GO:0031234 8.92 JAK1 JAK2 JAK3 TYK2

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

(show top 50) (show all 56)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.98 EPO PDGFRA PDGFRB THPO
2 positive regulation of cell migration GO:0030335 9.98 JAK2 KIT PDGFRA PDGFRB
3 phosphatidylinositol-mediated signaling GO:0048015 9.95 KIT KITLG PDGFRA PDGFRB
4 phosphatidylinositol phosphorylation GO:0046854 9.93 KIT KITLG PDGFRA PDGFRB
5 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.92 KIT KITLG PDGFRA PDGFRB
6 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.92 JAK1 KIT PDGFRA PDGFRB TYK2
7 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.89 IL3 JAK2 KITLG
8 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.89 JAK2 KIT PDGFRA PDGFRB
9 cell chemotaxis GO:0060326 9.88 KIT PDGFRA PDGFRB
10 type I interferon signaling pathway GO:0060337 9.88 IFNA2 JAK1 TYK2
11 peptidyl-tyrosine autophosphorylation GO:0038083 9.87 JAK1 JAK2 JAK3 TYK2
12 positive regulation of MAP kinase activity GO:0043406 9.86 KIT KITLG PDGFRB
13 erythrocyte differentiation GO:0030218 9.84 EPO JAK2 JAK3 KIT
14 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.83 KIT PDGFRA PDGFRB
15 platelet-derived growth factor receptor signaling pathway GO:0048008 9.82 JAK2 PDGFRA PDGFRB
16 regulation of type I interferon-mediated signaling pathway GO:0060338 9.81 IFNA2 JAK1 TYK2
17 positive regulation of DNA replication GO:0045740 9.81 EPO IL3 KITLG PDGFRA
18 embryonic hemopoiesis GO:0035162 9.78 IL3 KIT KITLG
19 JAK-STAT cascade GO:0007259 9.78 JAK2 SOCS3 STAT3 STAT5A
20 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.76 JAK1 JAK2 SOCS3
21 MAPK cascade GO:0000165 9.76 IL3 JAK1 JAK2 JAK3 KIT KITLG
22 positive regulation of phospholipase C activity GO:0010863 9.73 KIT PDGFRA PDGFRB
23 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.72 JAK2 PDGFRB
24 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.72 EPO IFNA2 IL3 JAK2 KIT
25 cardiac myofibril assembly GO:0055003 9.71 PDGFRA PDGFRB
26 enzyme linked receptor protein signaling pathway GO:0007167 9.71 JAK2 JAK3
27 tyrosine phosphorylation of STAT protein GO:0007260 9.71 JAK2 JAK3
28 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.71 EPO IL3 JAK2 KIT
29 retina vasculature development in camera-type eye GO:0061298 9.7 PDGFRA PDGFRB
30 growth hormone receptor signaling pathway GO:0060396 9.7 JAK2 STAT3
31 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 9.69 PDGFRA PDGFRB
32 ectopic germ cell programmed cell death GO:0035234 9.69 KIT KITLG
33 myeloid progenitor cell differentiation GO:0002318 9.67 KIT TET2
34 STAT protein import into nucleus GO:0007262 9.67 JAK2 JAK3
35 positive regulation of hematopoietic stem cell proliferation GO:1902035 9.67 KITLG THPO
36 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.67 JAK2 JAK3 STAT3 STAT5A
37 thrombopoietin-mediated signaling pathway GO:0038163 9.66 MPL THPO
38 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.66 PDGFRA PDGFRB
39 metanephric glomerular capillary formation GO:0072277 9.65 PDGFRA PDGFRB
40 positive regulation of tyrosine phosphorylation of Stat3 protein GO:0042517 9.65 IFNA2 JAK2 KIT SOCS3 STAT3
41 positive regulation of growth factor dependent skeletal muscle satellite cell proliferation GO:1902728 9.63 JAK2 STAT3
42 erythropoietin-mediated signaling pathway GO:0038162 9.61 EPO EPOR KIT
43 peptidyl-tyrosine phosphorylation GO:0018108 9.56 IL3 JAK2 JAK3 KIT PDGFRA PDGFRB
44 cytokine-mediated signaling pathway GO:0019221 9.28 CSF3R EPOR IFNA2 IL3 JAK2 KIT
45 signal transduction GO:0007165 10.34 CSF3R EPO EPOR JAK2 KIT KITLG
46 protein phosphorylation GO:0006468 10.16 JAK1 JAK2 JAK3 KIT PDGFRA PDGFRB
47 phosphorylation GO:0016310 10.15 JAK1 JAK2 JAK3 KIT PDGFRA PDGFRB
48 intracellular signal transduction GO:0035556 10.12 JAK1 JAK2 JAK3 KIT PDGFRB SOCS3
49 negative regulation of apoptotic process GO:0043066 10.11 EPO KITLG PDGFRB SOCS3 STAT3
50 innate immune response GO:0045087 10.11 IFNA2 JAK1 JAK2 JAK3 TYK2

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.98 JAK1 JAK2 JAK3 KIT PDGFRA PDGFRB
2 nucleotide binding GO:0000166 9.88 JAK1 JAK2 JAK3 KIT PDGFRA PDGFRB
3 protein kinase activity GO:0004672 9.87 JAK1 JAK2 JAK3 KIT PDGFRA PDGFRB
4 cytokine activity GO:0005125 9.85 IFNA2 IL3 KITLG THPO
5 protein phosphatase binding GO:0019903 9.71 JAK1 JAK3 STAT3
6 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.7 KIT PDGFRA PDGFRB
7 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.67 KIT KITLG PDGFRA PDGFRB
8 cytokine receptor activity GO:0004896 9.65 CSF3R EPOR MPL
9 platelet-derived growth factor receptor binding GO:0005161 9.58 PDGFRA PDGFRB
10 platelet-derived growth factor binding GO:0048407 9.57 PDGFRA PDGFRB
11 type 1 angiotensin receptor binding GO:0031702 9.56 JAK2 TYK2
12 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.56 JAK1 JAK2 JAK3 TYK2
13 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.56 IL3 JAK1 JAK2 JAK3 KIT KITLG
14 CCR5 chemokine receptor binding GO:0031730 9.51 JAK1 STAT3
15 vascular endothelial growth factor binding GO:0038085 9.49 PDGFRA PDGFRB
16 growth hormone receptor binding GO:0005131 9.33 JAK1 JAK2 TYK2
17 protein tyrosine kinase activity GO:0004713 9.28 IL3 JAK1 JAK2 JAK3 KIT PDGFRA
18 protein binding GO:0005515 10.41 CD177 CSF3R EPO EPOR IFNA2 JAK1

Sources for Polycythemia Vera, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
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42 MeSH
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
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68 Tocris
69 UMLS
70 UMLS via Orphanet
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