MCID: PLY018
MIFTS: 58

Polycythemia malady

Categories: Blood diseases, Immune diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Polycythemia

Summaries for Polycythemia

MalaCards based summary : Polycythemia, also known as polycythemia vera, is related to myeloproliferative neoplasm and erythrocytosis, somatic. An important gene associated with Polycythemia is CD177 (CD177 Molecule), and among its related pathways/superpathways are PEDF Induced Signaling and TGF-Beta Pathway. The drugs Zinc and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are Increased cell death HMECs cells and hematopoietic system

Wikipedia : 71 Polycythemia (also known as polycythaemia or polyglobulia) is a disease state in which the hematocrit... more...

Related Diseases for Polycythemia

Diseases in the Polycythemia family:

Primary Polycythemia Acquired Polycythemia
Polycythemia Due to Hypoxia Autosomal Dominant Secondary Polycythemia

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

(show top 50) (show all 254)
id Related Disease Score Top Affiliating Genes
1 myeloproliferative neoplasm 31.8 JAK2 MPL THPO
2 erythrocytosis, somatic 30.9 CD177 EPO EPOR IL3 JAK1 JAK2
3 poems syndrome 29.3 EPO TET2 TFRC THPO
4 hypermanganesemia with dystonia, polycythemia, and cirrhosis 12.3
5 polycythemia vera, somatic 12.3
6 primary polycythemia 12.0
7 acquired polycythemia 12.0
8 stress polycythemia 12.0
9 dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease 11.9
10 erythropoietin polycythemia 11.8
11 physiological polycythemia 11.8
12 dehydration polycythemia 11.7
13 autosomal recessive secondary polycythemia not associated with vhl gene 11.7
14 multiple paragangliomas associated with polycythemia 11.7
15 polycythemia due to hypoxia 11.7
16 autosomal dominant secondary polycythemia 11.7
17 capillary leak syndrome 11.2
18 erythrocytosis, familial, 2 11.2
19 budd-chiari syndrome 11.1
20 hemangioblastoma 11.1
21 erythromelalgia 11.1
22 aquagenic pruritus 11.1
23 chronic mountain sickness 11.1
24 pseudopolycythaemia 10.9
25 fumarase deficiency 10.9
26 plethora of newborn 10.9
27 leiomyoma 10.7
28 essential thrombocythemia 10.6
29 myelofibrosis 10.4
30 dominant hypophosphatemia with nephrolithiasis or osteoporosis 10.3 EGLN1 EPAS1
31 long qt syndrome 10.3 EPO EPOR JAK2
32 spondylocostal dysostosis 2 10.3 EPO JAK2 MPL
33 pyloric stenosis, infantile hypertrophic, 4 10.2 EPO IL3 JAK2
34 osteogenesis imperfecta, type viii 10.2 JAK2 MPL TET2
35 thrombosis 10.2
36 granular cell leiomyosarcoma 10.2 EPO EPOR VHL
37 extranodal nasal nk/t cell lymphoma 10.2 EPO EPOR KITLG
38 focal epilepsy 10.2 JAK2 MPL TET2
39 myotonic dystrophy 1 10.2 EPO KITLG
40 temporomandibular ankylosis 10.2 JAK2 KITLG TET2
41 leukemia 10.2
42 acute posterior multifocal placoid pigment epitheliopathy 10.2 EGLN1 HIF1A VHL
43 ectodermal dysplasia, ectrodactyly, and macular dystrophy 10.2 MPL THPO
44 central nervous system leiomyosarcoma 10.2 EPAS1 HIF1A VHL
45 thrombocytopenia, congenital amegakaryocytic 10.1 IL3 MPL THPO
46 cleft palate cardiac defect ectrodactyly 10.1 EPAS1 HIF1A VHL
47 blood coagulation disease 10.1 EPO MPL THPO
48 ocular hyperemia 10.1 JAK2 MPL THPO
49 sinusitis 10.1 IL3 JAK2 KITLG
50 cytokine receptor deficiency 10.1 IL3 KITLG THPO

Graphical network of the top 20 diseases related to Polycythemia:



Diseases related to Polycythemia

Symptoms & Phenotypes for Polycythemia

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 9.1 HIF1A IL3 JAK1 JAK2 TFRC TYK2

MGI Mouse Phenotypes related to Polycythemia:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.39 NFE2 STAT5A TET2 TFRC THPO TYK2
2 immune system MP:0005387 10.33 CD177 EGLN1 EPAS1 EPO EPOR HIF1A
3 growth/size/body region MP:0005378 10.32 EGLN1 EPAS1 EPOR HIF1A JAK1 JAK2
4 cellular MP:0005384 10.29 TET2 TFRC TYK2 VHL EGLN1 EPO
5 homeostasis/metabolism MP:0005376 10.28 EGLN1 EPAS1 EPO EPOR HIF1A JAK1
6 cardiovascular system MP:0005385 10.26 EPAS1 EPO EGLN1 EPOR HIF1A JAK1
7 embryo MP:0005380 10.19 KITLG MPL TFRC VHL EGLN1 EPAS1
8 mortality/aging MP:0010768 10.13 EGLN1 EPAS1 EPO EPOR HIF1A JAK1
9 liver/biliary system MP:0005370 10.1 JAK1 JAK2 KITLG STAT5A TET2 TFRC
10 integument MP:0010771 10.07 EGLN1 EPO HIF1A JAK1 JAK2 KITLG
11 neoplasm MP:0002006 9.63 HIF1A JAK2 KITLG NFE2 TET2 VHL
12 normal MP:0002873 9.61 EPO EPOR HIF1A JAK1 JAK2 STAT5A
13 skeleton MP:0005390 9.32 EGLN1 EPAS1 EPO HIF1A JAK1 JAK2

Drugs & Therapeutics for Polycythemia

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

(show top 50) (show all 294)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved Phase 4 7440-66-6 32051 23994
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Acetazolamide Approved, Vet_approved Phase 4,Phase 1,Phase 2 59-66-5 1986
4 insulin Phase 4
5 diuretics Phase 4,Phase 1,Phase 2
6 Natriuretic Agents Phase 4,Phase 1,Phase 2
7 Epinephryl borate Phase 4
8 Hypoglycemic Agents Phase 4,Phase 2,Phase 3
9 Anticonvulsants Phase 4,Phase 1,Phase 2
10 Insulin, Globin Zinc Phase 4
11 Racepinephrine Phase 4
12 Carbonic Anhydrase Inhibitors Phase 4,Phase 1,Phase 2
13
Lactitol Phase 4 585-86-4 3871
14
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 498142 38904
15
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1 50-18-0, 6055-19-2 2907
16
Fludarabine Approved Phase 2, Phase 3, Phase 1 21679-14-1, 75607-67-9 30751
17
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1 55-98-1 2478
18
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
19
Aspirin Approved, Vet_approved Phase 3,Phase 2 50-78-2 2244
20
Etoposide Approved Phase 2, Phase 3,Phase 1 33419-42-0 36462
21
Cytarabine Approved, Investigational Phase 3,Phase 2,Phase 1 147-94-4 6253
22
Melphalan Approved Phase 2, Phase 3, Phase 1 148-82-3 4053 460612
23
Iron Approved Phase 3,Phase 1,Phase 2 7439-89-6 23925
24
Morphine Approved, Investigational Phase 3 57-27-2 5288826
25
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
26
Hydroxyurea Approved Phase 3,Phase 2,Phase 1 127-07-1 3657
27
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
28
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
29
Ondansetron Approved Phase 3,Phase 1,Phase 2 99614-02-5 4595
30
Thiotepa Approved Phase 2, Phase 3,Phase 1 52-24-4 5453
31
Anagrelide Approved Phase 3,Phase 2 68475-42-3 2182
32
Lenalidomide Approved Phase 3,Phase 2 191732-72-6 216326
33
Benzocaine Approved Phase 3,Phase 1,Phase 2 1994-09-7, 94-09-7 2337
34
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
35
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
36
Peginterferon alfa-2a Approved, Investigational Phase 3,Phase 2,Phase 1 198153-51-4 5360545
37
Peginterferon alfa-2b Approved Phase 3,Phase 1,Phase 2 99210-65-8, 215647-85-1
38
Caspofungin Approved Phase 3,Phase 2 179463-17-3, 162808-62-0 468682 2826718
39
Guaifenesin Approved, Vet_approved Phase 3 93-14-1 3516
40 Pomalidomide Approved Phase 3,Phase 1,Phase 2 19171-19-8
41
Testosterone Approved, Investigational Phase 3 58-22-0 6013
42
Danazol Approved Phase 3,Phase 2 17230-88-5 28417
43
Methyltestosterone Approved Phase 3 58-18-4 6010
44 tannic acid Approved, Nutraceutical Phase 3,Phase 1,Phase 2
45
Ginseng Approved, Nutraceutical Phase 3 50647-08-0
46 Analgesics Phase 3,Phase 2,Phase 1
47 Alkylating Agents Phase 2, Phase 3,Phase 1
48 Neurotransmitter Agents Phase 3,Phase 2
49 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1
50 Dermatologic Agents Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 272)
id Name Status NCT ID Phase
1 Treatment of High Altitude Polycythemia by Acetazolamide Completed NCT00424970 Phase 4
2 Exploratory Phase II Study of INC424 Patients With Primary Myelofibrosis (PMF) or Post Polycythaemia Myelofibrosis (PPV MF) or Post Essential Thrombocythaemia Myelofibrosis (PET-MF) Completed NCT01558739 Phase 4
3 Investigating the Accuracy of the Home Glucose Monitors in Hypoglycemia Completed NCT01013402 Phase 4
4 CINC424A2X01B Rollover Protocol Recruiting NCT02386800 Phase 4
5 INC424 for Patients With Myelofibrosis, Post Polycythemia Myelofibrosis or Post-essential Thrombocythemia Myelofibrosis No longer available NCT01493414 Phase 4
6 Glyburide Compared to Insulin in the Management of White's Classification A2 Gestational Diabetes Withdrawn NCT00160485 Phase 4
7 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3
8 Randomized Switch Study From Hydroxyurea to Ruxolitinib for RELIEF of Polycythemia Vera Symptoms: The Relief Study Completed NCT01632904 Phase 3
9 Study to Assess the Self-administration of AOP2014 Using a Pen, Developed for the Treatment of Polycythemia Vera Patients Completed NCT02523638 Phase 3
10 Pegylated Interferon Alpha-2b Versus Hydroxyurea in Polycythemia Vera Completed NCT01949805 Phase 3
11 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
12 COntrolled MyeloFibrosis Study With ORal JAK Inhibitor Treatment: The COMFORT-I Trial Completed NCT00952289 Phase 3
13 Controlled Myelofibrosis Study With Oral Janus-associated Kinase (JAK) Inhibitor Treatment-II: The COMFORT-II Trial Completed NCT00934544 Phase 3
14 Phase III Study of SAR302503 in Intermediate-2 and High Risk Patients With Myelofibrosis Completed NCT01437787 Phase 3
15 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
16 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3
17 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
18 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3
19 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3
20 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3
21 St. John's Wort in Relieving Fatigue in Patients Undergoing Chemotherapy or Hormone Therapy for Cancer Completed NCT00005805 Phase 3
22 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3
23 Treatment for Chronic Pain in Patients With Advanced Cancer Completed NCT00003687 Phase 3
24 Metformin in Obese Non-diabetic Pregnant Women Completed NCT01273584 Phase 2, Phase 3
25 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
26 The Ruxo-BEAT Trial in Patients With High-risk Polycythemia Vera or High-risk Essential Thrombocythemia Recruiting NCT02577926 Phase 3
27 Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea in Polycythemia Vera (PV) and Essential Thrombocythemia (ET) Active, not recruiting NCT01259856 Phase 3
28 Ruxolitinib Efficacy and Safety in Patients With HU Resistant or Intolerant Polycythemia Vera vs Best Available Therapy. Active, not recruiting NCT02038036 Phase 3
29 AOP2014 vs. BAT in Patients With Polycythemia Vera Who Previously Participated in the PROUD-PV Study. Active, not recruiting NCT02218047 Phase 3
30 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
31 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
32 Momelotinib Versus Ruxolitinib in Subjects With Myelofibrosis Active, not recruiting NCT01969838 Phase 3
33 A Study of Low Dose Interferon Alpha Versus Hydroxyurea in Treatment of Chronic Myeloid Neoplasms Active, not recruiting NCT01387763 Phase 3
34 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
35 Combination Chemotherapy and Donor Stem Cell Transplant in Treating Patients With Aplastic Anemia or Hematologic Cancer Active, not recruiting NCT00003816 Phase 2, Phase 3
36 Large-scale Trial Testing the Intensity of CYTOreductive Therapy in Polycythemia Vera (PV) Terminated NCT01645124 Phase 3
37 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis With Thrombocytopenia Terminated NCT02055781 Phase 3
38 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis Terminated NCT01773187 Phase 3
39 H-36731: Finasteride in Management of Elevated Red Blood Cells Withdrawn NCT02548117 Phase 3
40 A Study of the Efficacy of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia Unknown status NCT00866762 Phase 2
41 LBH589 (Panobinostat) for the Treatment of Myelofibrosis Unknown status NCT01298934 Phase 1, Phase 2
42 CEP-701 (Lestaurtinib) in Myelofibrosis Unknown status NCT00668421 Phase 1, Phase 2
43 Phase II Study of GIVINOSTAT (ITF2357) in Combination With Hydroxyurea in Polycythemia Vera Completed NCT00928707 Phase 2
44 Dasatinib in Polycythemia Vera Completed NCT00538980 Phase 2
45 Efficacy and Safety of Pegylated Interferon Alfa in Polycythemia Vera Completed NCT00241241 Phase 2
46 Pegylated Interferon Alfa-2a Salvage Therapy in High Risk Polycythemia Vera (PV) or Essential Thrombocythemia (ET) Completed NCT01259817 Phase 2
47 Treatment of Polycythemia Vera With Gleevec Completed NCT01120821 Phase 2
48 Effects of Imatinib Mesylate in Polycythemia Vera Completed NCT00430066 Phase 2
49 Open Label Study to Evaluate the Activity of Imetelstat in Patients With Essential Thrombocythemia or Polycythemia Vera Completed NCT01243073 Phase 2
50 Open-Label Study of Oral CEP-701 (Lestaurtinib) in Patients With Polycythemia Vera or Essential Thrombocytosis Completed NCT00586651 Phase 2

Search NIH Clinical Center for Polycythemia

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


Cochrane evidence based reviews: polycythemia

Genetic Tests for Polycythemia

Genetic tests related to Polycythemia:

id Genetic test Affiliating Genes
1 Polycythemia 29
2 Polycythaemia 29

Anatomical Context for Polycythemia

MalaCards organs/tissues related to Polycythemia:

39
Bone, Bone Marrow, Myeloid, Neutrophil, Endothelial, Liver, Lung

Publications for Polycythemia

Articles related to Polycythemia:

(show top 50) (show all 1074)
id Title Authors Year
1
Erythromelalgia in patients with essential thrombocythemia and polycythemia vera. ( 27684959 )
2017
2
Can pegylated interferon improve the outcome of polycythemia vera patients? ( 28086927 )
2017
3
Driver mutations (JAK2V617F, MPLW515L/K or CALR), pentraxin-3 and C-reactive protein in essential thrombocythemia and polycythemia vera. ( 28228104 )
2017
4
Transcriptome reveals the overexpression of a kallikrein gene cluster (KLK1/3/7/8/12) in the Tibetans with high altitude-associated polycythemia. ( 28000848 )
2017
5
From leeches to personalized medicine: evolving concepts in the management of polycythemia vera. ( 27884974 )
2017
6
Loss of p53 induces leukemic transformation in a murine model of Jak2 V617F-driven polycythemia vera. ( 28068330 )
2017
7
Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk-stratification, and management. ( 27991718 )
2017
8
Somatic JAK-2 V617F Mutational Analysis in Polycythemia Rubra Vera: a Tertiary Care Center Experience. ( 27039724 )
2016
9
Cerebral venous thrombosis and secondary polycythemia in a case of nephrotic syndrome. ( 26997397 )
2016
10
Twin anemia polycythemia sequence: a single center experience and literature review. ( 27597647 )
2016
11
Bone mineral density and microarchitecture in patients with essential thrombocythemia and polycythemia vera. ( 27734102 )
2016
12
Detection of JAK2 Exon 12 Mutations in JAK2 V617F-Negative Polycythemia Vera Patients by Cloning Technique. ( 27410038 )
2016
13
Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome. ( 27679736 )
2016
14
Clinical Improvement with JAK2 Inhibition in Chuvash Polycythemia. ( 27518686 )
2016
15
Erythrocytosis due to presumed polycythemia vera. ( 27618352 )
2016
16
How to Treat Essential Thrombocythemia and Polycythemia Vera. ( 27521307 )
2016
17
Multiple Thrombi in the Inferior Vena Cava and Right Atrium - Recurrent Thromboembolism Due to Polycythemia Vera. ( 27627644 )
2016
18
Diffuse large B-cell lymphoma and polycythemia vera discovered at the onset - a rare association and its possible importance in lymphoma prognosis. ( 27151728 )
2016
19
Hairy cell leukemia followed by polycythemia vera: report of the first case. ( 26941958 )
2016
20
Prenatal diagnosis of spontaneous twin anemia-polycythemia sequence and postnatal examination of placental vascular anastomoses. ( 27896259 )
2016
21
A Clue in JAK2: Masked Polycythemia Vera. ( 27427321 )
2016
22
A novel biological function of soluble biglycan: Induction of erythropoietin production and polycythemia. ( 27600268 )
2016
23
Fluid Supplementation versus No Fluid Supplementation in Late Preterm and Term Neonates with Asymptomatic Polycythemia: A Randomized Controlled Trial. ( 27889725 )
2016
24
Extensive Bone Marrow Necrosis and Osteolytic Lesions in a Case of Acute Myeloid Leukemia Transformed from Polycythemia Vera. ( 27433418 )
2016
25
Macular hemorrhages associated with neonatal polycythemia and thrombocytopenia: A case report. ( 28041861 )
2016
26
Ruxolitinib versus best available therapy in patients with Polycythemia Vera: 80 Week follow up from the RESPONSE trial. ( 27102499 )
2016
27
Elevation of the Hepatitis B Virus DNA during the Treatment of Polycythemia Vera with the JAK Kinase Inhibitor Ruxolitinib. ( 27181544 )
2016
28
Minihepcidin peptides as disease modifiers in mice affected by I^-thalassemia and polycythemia vera. ( 27154187 )
2016
29
Hyponatremic Hypertensive Syndrome in a Preterm Infant with Twin Anemia-Polycythemia Sequence. ( 28087258 )
2016
30
Interaction of CARD14, SENP1 and VEGFA polymorphisms on susceptibility to high altitude polycythemia in the Han Chinese population at the Qinghai-Tibetan Plateau. ( 26852650 )
2016
31
Impact of JAK2V617F Mutation Burden on Disease Phenotype in Chinese Patients with JAK2V617F-positive Polycythemia Vera (PV) and Essential thrombocythemia (ET). ( 26917989 )
2016
32
A phase II study of panobinostat in patients with primary myelofibrosis (PMF) and post-polycythemia vera/essential thrombocythemia myelofibrosis (post-PV/ET MF). ( 27930945 )
2016
33
The impact of interferon-alpha2 on HLA genes in patients with polycythemia vera and related neoplasms. ( 27911124 )
2016
34
Clinical features of Japanese polycythemia vera and essential thrombocythemia patients harboring CALR, JAK2V617F, JAK2Ex12del, and MPLW515L/K mutations. ( 26614694 )
2016
35
The glucocorticoid receptor A3669G SNP is not associated with polycythemia vera, essential thrombocythemia or primary myelofibrosis. ( 25926062 )
2016
36
The Placenta in Twin-to-Twin Transfusion Syndrome and Twin Anemia Polycythemia Sequence. ( 27098457 )
2016
37
Factors related to the development of acquired von Willebrand syndrome in patients with essential thrombocythemia and polycythemia vera. ( 27919526 )
2016
38
A remarkable hematological and molecular response pattern in a patient with polycythemia vera during combination therapy with simvastatin and alendronate. ( 27489765 )
2016
39
Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene. ( 27117033 )
2016
40
Pulmonary vein thrombosis in a patient with polycythemia vera. ( 27957255 )
2016
41
Twin Anemia Polycythemia Sequence: Current Views on Pathogenesis, Diagnostic Criteria, Perinatal Management, and Outcome. ( 27068715 )
2016
42
Erdheim-Chester Disease With Multiorgan Involvement, Following Polycythemia Vera: A Case Report. ( 27196481 )
2016
43
Polycythemia and Thrombocytosis. ( 27866579 )
2016
44
Development of Hypercalcemia in a Patient Receiving Peginterferon alfa-2a Therapy for Polycythemia Vera. ( 27150448 )
2016
45
Hydroxyurea for Treatment of Nephrotic Syndrome AssociatedA With Polycythemia Vera. ( 27133437 )
2016
46
A Polycythemia Vera JAK2 Mutation Masquerading as a Duodenal Cancer Mutation. ( 27956534 )
2016
47
Characteristics and treatment of polycythemia vera patients in clinical practice: a multicenter chart review on 1476 individuals in Germany. ( 27431664 )
2016
48
Coexistence of gain-of-function JAK2 germline mutations with JAK2V617F in polycythemia vera. ( 27647865 )
2016
49
Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients. ( 27132877 )
2016
50
Efficacy and safety of JAK inhibitor INC424 in patients with primary and post-polycythemia vera or post-essential thrombocythemia myelofibrosis in the Chinese population. ( 27858230 )
2016

Variations for Polycythemia

Copy number variations for Polycythemia from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 251119 9 25500000 28100000 Mutation JAK2 polycythaemia
2 251120 9 25500000 28100000 Mutation V617F polycythaemia
3 253987 9 4985245 5128183 Mutation JAK2 polycythaemia

Expression for Polycythemia

Search GEO for disease gene expression data for Polycythemia.

Pathways for Polycythemia

Pathways related to Polycythemia according to GeneCards Suite gene sharing:

(show top 50) (show all 54)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 EPO EPOR IL3 JAK2 KITLG MPL
2
Show member pathways
13.5 EPO EPOR IL3 JAK1 JAK2 KITLG
3
Show member pathways
13.4 EPOR IL3 JAK1 JAK2 KITLG STAT5A
4
Show member pathways
13.35 HIF1A IL3 JAK1 JAK2 KITLG STAT5A
5
Show member pathways
13.31 CD177 HBB IL3 JAK1 JAK2 MPL
6
Show member pathways
13.02 HIF1A IL3 JAK1 JAK2 KITLG THPO
7
Show member pathways
12.78 JAK1 JAK2 MPL STAT5A THPO TYK2
8
Show member pathways
12.6 HIF1A JAK1 JAK2 STAT5A TYK2
9 12.6 EGLN1 EPAS1 HIF1A JAK1 KITLG STAT5A
10
Show member pathways
12.59 EPAS1 JAK1 JAK2 STAT5A TYK2
11 12.57 EPO EPOR IL3 JAK1 JAK2 KITLG
12 12.44 IL3 JAK1 JAK2 KITLG MPL STAT5A
13
Show member pathways
12.38 JAK1 JAK2 STAT5A TYK2
14
Show member pathways
12.31 JAK1 JAK2 STAT5A TYK2
15
Show member pathways
12.31 IL3 JAK1 JAK2 STAT5A TYK2
16
Show member pathways
12.25 HIF1A JAK1 JAK2 TYK2
17 11.98 HIF1A JAK1 JAK2 TYK2
18 11.98 EPO IL3 KITLG MPL THPO
19
Show member pathways
11.94 JAK2 STAT5A TYK2
20
Show member pathways
11.94 JAK1 JAK2 STAT5A TYK2
21
Show member pathways
11.91 EPO EPOR IL3 JAK1 JAK2 KITLG
22
Show member pathways
11.9 JAK1 JAK2 STAT5A TYK2
23
Show member pathways
11.87 EPO EPOR JAK2 STAT5A
24
Show member pathways
11.84 EPAS1 HIF1A VHL
25
Show member pathways
11.84 IL3 JAK2 STAT5A
26 11.83 EGLN1 EPO HIF1A TFRC VHL
27 11.82 JAK1 JAK2 STAT5A
28
Show member pathways
11.81 JAK1 JAK2 TYK2
29 11.72 EPO EPOR IL3 KITLG TFRC THPO
30 11.71 EPOR IL3 KITLG THPO
31 11.68 HIF1A JAK2 STAT5A
32 11.66 JAK1 JAK2 STAT5A
33 11.66 EGLN1 EPO HIF1A TFRC
34
Show member pathways
11.62 JAK1 JAK2 TYK2
35 11.6 JAK1 STAT5A TYK2
36 11.57 EGLN1 EPO HIF1A VHL
37 11.55 JAK2 STAT5A TYK2
38 11.53 EPO IL3 KITLG
39 11.51 JAK1 JAK2 STAT5A
40
Show member pathways
11.51 EPO EPOR IL3 JAK1 JAK2 MPL
41 11.47 JAK1 JAK2 TYK2
42
Show member pathways
11.47 EPO EPOR JAK2
43
Show member pathways
11.45 JAK1 JAK2 TYK2
44 11.44 JAK1 JAK2 STAT5A TYK2
45 11.4 EPO IL3 KITLG NFE2 STAT5A
46
Show member pathways
11.39 JAK1 JAK2 STAT5A TYK2
47 11.38 EGLN1 EPO HIF1A
48 11.33 EPO EPOR IL3 JAK1 JAK2 STAT5A
49 11.31 EGLN1 EPAS1 EPO VHL
50 11.3 JAK2 MPL STAT5A THPO

GO Terms for Polycythemia

Cellular components related to Polycythemia 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 8.8 JAK1 JAK2 TYK2

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

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.91 IL3 JAK1 JAK2 KITLG
2 blood coagulation GO:0007596 9.88 CD177 HBB JAK2 NFE2
3 response to hypoxia GO:0001666 9.85 EGLN1 EPAS1 EPO HIF1A
4 peptidyl-tyrosine phosphorylation GO:0018108 9.84 IL3 JAK2 STAT5A TYK2
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.77 IL3 JAK2 KITLG
6 cytokine-mediated signaling pathway GO:0019221 9.76 EPOR IL3 JAK2 MPL
7 cellular iron ion homeostasis GO:0006879 9.74 EGLN1 HIF1A TFRC
8 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.7 EPO IL3 JAK2
9 peptidyl-tyrosine autophosphorylation GO:0038083 9.65 JAK1 JAK2 TYK2
10 regulation of cell proliferation GO:0042127 9.65 HIF1A JAK1 JAK2 TFRC TYK2
11 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.61 JAK2 STAT5A
12 erythrocyte differentiation GO:0030218 9.61 EPAS1 EPO JAK2
13 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.6 JAK1 JAK2
14 oxygen homeostasis GO:0032364 9.58 EGLN1 HIF1A
15 positive regulation of DNA replication GO:0045740 9.58 EPO IL3 KITLG
16 regulation of transcription from RNA polymerase II promoter in response to oxidative stress GO:0043619 9.56 EPAS1 HIF1A
17 hemoglobin biosynthetic process GO:0042541 9.51 EPO HIF1A
18 positive regulation of hematopoietic stem cell proliferation GO:1902035 9.49 KITLG THPO
19 erythropoietin-mediated signaling pathway GO:0038162 9.37 EPO EPOR
20 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.33 EPO IL3 JAK2
21 thrombopoietin-mediated signaling pathway GO:0038163 9.32 MPL THPO
22 embryonic hemopoiesis GO:0035162 9.13 HIF1A IL3 KITLG
23 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.02 EGLN1 EPAS1 EPO HIF1A VHL

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

id Name GO ID Score Top Affiliating Genes
1 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.5 JAK1 JAK2 TYK2
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.46 IL3 JAK1 JAK2 KITLG
3 type 1 angiotensin receptor binding GO:0031702 9.37 JAK2 TYK2
4 protein tyrosine kinase activity GO:0004713 9.35 IL3 JAK1 JAK2 STAT5A TYK2
5 growth hormone receptor binding GO:0005131 8.8 JAK1 JAK2 TYK2
6 protein binding GO:0005515 10.19 CD177 EGLN1 EPAS1 EPO EPOR HBB

Sources for Polycythemia

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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