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MCID: PRM012
MIFTS: 52

Primary Polycythemia

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Primary Polycythemia

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MalaCards integrated aliases for Primary Polycythemia:

Name: Primary Polycythemia 12 15
Familial Erythrocytosis 12 25 29 6 73
Polycythemia, Primary Familial and Congenital 44
Primary Familial Polycythemia 25
Benign Familial Polycythemia 25
Congenital Erythrocytosis 25
Hereditary Erythrocytosis 25
Erythrocytosis, Familial 55
Familiar Polycythemia 12
Familial Polycythemia 25
Polycythemia Vera 73

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:10780
ICD10 33 D75.0
ICD9CM 35 289.6
MeSH 44 C536842
NCIt 50 C26955
SNOMED-CT 68 17342003
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Summaries for Primary Polycythemia

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Disease Ontology : 12 A polycythemia that_has_material_basis in factors intrinsic to red cell precursors.

MalaCards based summary : Primary Polycythemia, also known as familial erythrocytosis, is related to erythrocytosis, familial, 1 and erythrocytosis, familial, 2, and has symptoms including fatigue, headache and dizziness. An important gene associated with Primary Polycythemia is EPOR (Erythropoietin Receptor), and among its related pathways/superpathways are TGF-Beta Pathway and Response to elevated platelet cytosolic Ca2+. The drugs Zinc and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include bone, myeloid and neutrophil, and related phenotypes are Decreased viability and Decreased viability

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Related Diseases for Primary Polycythemia

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Diseases in the Polycythemia family:

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

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 erythrocytosis, familial, 1 32.5 JAK2 IL3 EPOR EPO DPM1
2 erythrocytosis, familial, 2 31.9 VHL EPOR EPO EGLN1
3 polycythemia vera 31.2 TET2 SOCS3 MPL JAK2 JAK1 IL3
4 thrombocytosis 29.3 TET2 MPL JAK2 IL3 EPO
5 myeloid leukemia 29.2 TET2 JAK2 IL3 ABL1
6 polycythemia 28.7 VHL TET2 MPL JAK2 JAK1 IL3
7 erythrocytosis, familial, 7 12.2
8 erythrocytosis, familial, 6 12.1
9 erythrocytosis, familial, 5 11.7
10 erythropoietin polycythemia 11.5
11 erythrocytosis, familial, 3 11.1
12 erythrocytosis, familial, 4 11.1
13 autosomal dominant secondary polycythemia 10.2 EPO EGLN1
14 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 10.2 JAK2 DPM1
15 neonatal anemia 10.2 EPOR EPO
16 acquired polycythemia 10.1 JAK2 EPOR EPO
17 anemia of prematurity 10.1 IL3 EPOR EPO
18 retinitis pigmentosa and erythrocytic microcytosis 10.1 JAK2 IL3 EPO
19 erythroleukemia, familial 10.1 EPOR EPO
20 hemangioblastoma 10.1 VHL EPOR EPO
21 deficiency anemia 10.1 IL3 EPOR EPO
22 plethora of newborn 10.1 EPO EGLN1
23 thrombocythemia 1 10.1 MPL CALR
24 amegakaryocytic thrombocytopenia, congenital 10.0 MPL IL3
25 splenomegaly 10.0 MPL JAK2 EPO
26 lactocele 10.0 JAK2 JAK1
27 pancytopenia 10.0 MPL IL3 EPO
28 subacute myeloid leukemia 10.0 TET2 JAK2
29 ewing's family of tumors 10.0 EPOR EPO
30 thrombocytopenia-absent radius syndrome 10.0 MPL JAK2 CALR
31 chromosome 5q deletion syndrome 10.0 TET2 EPO
32 atypical chronic myeloid leukemia 10.0 JAK2 ASXL1 ABL1
33 folic acid deficiency anemia 10.0 TET2 EPO
34 diamond-blackfan anemia 9.9 MPL IL3 EPOR EPO
35 lymphoblastic leukemia, acute, with lymphomatous features 9.9 JAK2 JAK1 ABL1
36 chronic neutrophilic leukemia 9.9 CALR ASXL1
37 sm-ahnmd 9.9 TET2 ASXL1
38 paraganglioma 9.8
39 chronic leukemia 9.8 TET2 JAK2 ASXL1
40 systemic mastocytosis 9.8 TET2 JAK2 ASXL1
41 von hippel-lindau syndrome 9.8
42 hypoxia 9.8
43 chronic myelomonocytic leukemia 9.8 TET2 JAK2 ASXL1
44 phosphatase, acid, of tissues 9.7
45 lymphoma, hodgkin, classic 9.7
46 lymphoma, non-hodgkin, familial 9.7
47 leukemia 9.7
48 neuropathy 9.7
49 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 9.7
50 budd-chiari syndrome 9.7

Comorbidity relations with Primary Polycythemia via Phenotypic Disease Network (PDN):


Acquired Polycythemia Chronic Pulmonary Heart Disease
Familial Atrial Fibrillation Heart Disease
Hypertension, Essential Ischemic Heart Disease
Peripheral Vascular Disease Respiratory Failure
Retinitis Pigmentosa and Erythrocytic Microcytosis Transient Cerebral Ischemia

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



Diseases related to Primary Polycythemia
Sources

Symptoms & Phenotypes for Primary Polycythemia

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UMLS symptoms related to Primary Polycythemia:


fatigue, headache, dizziness, dyspnea on exertion

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.5 ABL1 VHL
2 Decreased viability GR00221-A-2 9.5 ABL1 JAK1 JAK2 VHL
3 Decreased viability GR00221-A-3 9.5 ABL1
4 Decreased viability GR00301-A 9.5 VHL
5 Decreased viability GR00342-S-1 9.5 ABL1
6 Decreased viability GR00342-S-2 9.5 ABL1
7 Decreased viability GR00342-S-3 9.5 ABL1
8 Decreased viability GR00402-S-2 9.5 ABL1 JAK1 JAK2 VHL

MGI Mouse Phenotypes related to Primary Polycythemia:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.24 ABL1 ASXL1 CALR EGLN1 EPO EPOR
2 hematopoietic system MP:0005397 10.21 ABL1 ASXL1 CD177 EGLN1 EPO EPOR
3 growth/size/body region MP:0005378 10.2 ABL1 ASXL1 CALR EGLN1 EPOR JAK1
4 cardiovascular system MP:0005385 10.16 ABL1 CALR EGLN1 EPO EPOR JAK1
5 immune system MP:0005387 10.15 ABL1 ASXL1 CD177 EGLN1 EPO EPOR
6 homeostasis/metabolism MP:0005376 10.14 ABL1 ASXL1 CALR EGLN1 EPO EPOR
7 embryo MP:0005380 10.13 ABL1 CALR EGLN1 EPO EPOR JAK2
8 mortality/aging MP:0010768 10.07 ABL1 ASXL1 CALR DPM1 EGLN1 EPO
9 liver/biliary system MP:0005370 10.02 ABL1 ASXL1 EGLN1 EPO EPOR JAK1
10 normal MP:0002873 9.76 ABL1 EPO EPOR JAK1 JAK2 SOCS3
11 respiratory system MP:0005388 9.43 ABL1 EGLN1 EPO EPOR JAK1 SOCS3
12 skeleton MP:0005390 9.23 ABL1 ASXL1 EGLN1 EPO JAK1 JAK2
Sources

Drugs & Therapeutics for Primary Polycythemia

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

(show top 50) (show all 264)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4 7440-66-6
2
Lactitol Investigational Phase 4 585-86-4 3871
3
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
4
Hydroxyurea Approved Phase 3,Phase 2,Phase 1 127-07-1 3657
5
Aspirin Approved, Vet_approved Phase 3,Phase 2 50-78-2 2244
6
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 38904 498142
7
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
8
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 6055-19-2, 50-18-0 2907
9
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 55-98-1 2478
10
Iron Approved Phase 3,Phase 1,Phase 2 7439-89-6 23925
11
Peginterferon alfa-2b Approved Phase 3,Phase 1,Phase 2 99210-65-8, 215647-85-1
12
Peginterferon alfa-2a Approved, Investigational Phase 3,Phase 2,Phase 1 198153-51-4 5360545
13 Pomalidomide Approved Phase 3,Phase 2,Phase 1 19171-19-8
14
Anagrelide Approved Phase 3,Phase 2 68475-42-3 2182
15
Lenalidomide Approved Phase 3,Phase 2 191732-72-6 216326
16
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
17
Ondansetron Approved Phase 3,Phase 1,Phase 2,Not Applicable 99614-02-5 4595
18
Caspofungin Approved Phase 3,Phase 2 179463-17-3, 162808-62-0 468682 2826718
19
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
20
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
21
Guaifenesin Approved, Investigational, Vet_approved Phase 3,Not Applicable 93-14-1 3516
22
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
23
Morphine Approved, Investigational Phase 3,Not Applicable 57-27-2 5288826
24
Melphalan Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 148-82-3 4053 460612
25
Thiotepa Approved, Investigational Phase 2, Phase 3,Phase 1 52-24-4 5453
26
Etoposide Approved Phase 2, Phase 3,Phase 1 33419-42-0 36462
27 tannic acid Approved Phase 3,Phase 1,Phase 2,Not Applicable
28
Benzocaine Approved, Investigational Phase 3,Phase 1,Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
29
Danazol Approved Phase 3,Phase 2 17230-88-5 28417
30
Cytarabine Approved, Investigational Phase 3,Phase 2,Phase 1 147-94-4 6253
31
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
32
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
33 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
34 Anesthetics, Dissociative Phase 3
35 Anesthetics, General Phase 3
36 Excitatory Amino Acid Antagonists Phase 3
37 Excitatory Amino Acids Phase 3
38 Central Nervous System Depressants Phase 3,Phase 1,Phase 2,Not Applicable
39 Analgesics Phase 3,Phase 2,Phase 1,Not Applicable
40 Anesthetics, Intravenous Phase 3
41 Neurotransmitter Agents Phase 3,Phase 2,Not Applicable
42 Anesthetics Phase 3
43 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1,Not Applicable
44 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
45 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
46 Anti-Infective Agents Phase 3,Phase 2,Phase 1,Not Applicable
47 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Not Applicable
48 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1,Not Applicable
49 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Not Applicable
50 Dermatologic Agents Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 250)
# Name Status NCT ID Phase Drugs
1 CINC424A2X01B Rollover Protocol Recruiting NCT02386800 Phase 4 Ruxolitinib
2 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3 ketamine hydrochloride
3 Randomized Switch Study From Hydroxyurea to Ruxolitinib for RELIEF of Polycythemia Vera Symptoms: The Relief Study Completed NCT01632904 Phase 3 Ruxolitinib;Hydroxyurea (HU);HU-placebo;Ruxolitinib-placebo
4 Study to Assess the Self-administration of AOP2014 Using a Pen, Developed for the Treatment of Polycythemia Vera Patients Completed NCT02523638 Phase 3 Pegylated-Proline-Interferon alpha-2b in a Pre-filled Pen
5 Pegylated Interferon Alpha-2b Versus Hydroxyurea in Polycythemia Vera Completed NCT01949805 Phase 3 Peg-P-IFN-alpha-2b (AOP2014);Hydroxyurea
6 Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea in Polycythemia Vera (PV) and Essential Thrombocythemia (ET) Completed NCT01259856 Phase 3 PEGASYS;Hydroxyurea;Aspirin
7 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) Completed NCT01243944 Phase 3 ruxolitinib tablets
8 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
9 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 Ruxolitinib
10 COntrolled MyeloFibrosis Study With ORal JAK Inhibitor Treatment: The COMFORT-I Trial Completed NCT00952289 Phase 3 Ruxolitinib;Placebo
11 Controlled Myelofibrosis Study With Oral Janus-associated Kinase (JAK) Inhibitor Treatment-II: The COMFORT-II Trial Completed NCT00934544 Phase 3 INC424/INCB018424;Best Available Therapy (BAT)
12 Phase III Study of SAR302503 in Intermediate-2 and High Risk Patients With Myelofibrosis Completed NCT01437787 Phase 3 SAR302503;Placebo
13 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 Completed NCT01178281 Phase 3 Pomalidomide 0.5 mg;Placebo
14 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
15 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3 American ginseng
16 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
17 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
18 St. John's Wort in Relieving Fatigue in Patients Undergoing Chemotherapy or Hormone Therapy for Cancer Completed NCT00005805 Phase 3
19 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3 ondansetron
20 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3 caspofungin acetate;liposomal amphotericin B
21 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3 liposomal amphotericin B
22 Treatment for Chronic Pain in Patients With Advanced Cancer Completed NCT00003687 Phase 3 dextromethorphan hydrobromide;morphine sulfate
23 Ruxolitinib Efficacy and Safety in Patients With HU Resistant or Intolerant Polycythemia Vera vs Best Available Therapy. Recruiting NCT02038036 Phase 3 Best Available Therapy;ruxolitinib
24 AOP2014 vs. 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)
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 Momelotinib;Best Available Therapy (BAT)
26 Momelotinib Versus Ruxolitinib in Subjects With Myelofibrosis Active, not recruiting NCT01969838 Phase 3 Momelotinib;Ruxolitinib;Placebo to match momelotinib;Placebo to match ruxolitinib
27 A Study of Low Dose Interferon Alpha Versus Hydroxyurea in Treatment of Chronic Myeloid Neoplasms Active, not recruiting NCT01387763 Phase 3 PegIntron;Pegasys;PegIntron;Pegasys;Hydrea
28 Combination Chemotherapy and Donor Stem Cell Transplant in Treating Patients With Aplastic Anemia or Hematologic Cancer Active, not recruiting NCT00003816 Phase 2, Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
29 An Efficacy and Safety Trial of Fedratinib in Subjects With DIPSS, Intermediate or High-Risk Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis and Previously Treated With Ruxolitinib Not yet recruiting NCT03755518 Phase 3 FEDRATINIB
30 Large-scale Trial Testing the Intensity of CYTOreductive Therapy in Polycythemia Vera (PV) Terminated NCT01645124 Phase 3 Hydroxyurea
31 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis With Thrombocytopenia Terminated NCT02055781 Phase 3 Pacritinib;Best Available Therapy
32 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis Terminated NCT01773187 Phase 3 Pacritinib;Best Available Therapy
33 A Study of the Efficacy of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia Unknown status NCT00866762 Phase 2 HDAC inhibitor (MK-0683)
34 CEP-701 (Lestaurtinib) in Myelofibrosis Unknown status NCT00668421 Phase 1, Phase 2 CEP-701 (Lestaurtinib)
35 LBH589 (Panobinostat) for the Treatment of Myelofibrosis Unknown status NCT01298934 Phase 1, Phase 2 LBH589
36 Phase II Study of GIVINOSTAT (ITF2357) in Combination With Hydroxyurea in Polycythemia Vera Completed NCT00928707 Phase 2 GIVINOSTAT (ITF2357) 50 mg o.d. + MTD Hydroxyurea;GIVINOSTAT (ITF2357) 50 mg b.i.d. + MTD Hydroxyurea
37 A Two-part Study to Assess the Safety and Preliminary Efficacy of Givinostat in Patients With Polycythemia Vera Completed NCT01901432 Phase 1, Phase 2 Givinostat
38 Pegylated Interferon Alfa-2a Salvage Therapy in High Risk Polycythemia Vera (PV) or Essential Thrombocythemia (ET) Completed NCT01259817 Phase 2 PEGASYS;Aspirin
39 Efficacy and Safety of Pegylated Interferon Alfa in Polycythemia Vera Completed NCT00241241 Phase 2 pegylated interferon-alfa 2a
40 Treatment of Polycythemia Vera With Gleevec Completed NCT01120821 Phase 2 Gleevec
41 Effects of Imatinib Mesylate in Polycythemia Vera Completed NCT00430066 Phase 2 Imatinib Mesylate
42 Open Label Study to Evaluate the Activity of Imetelstat in Patients With Essential Thrombocythemia or Polycythemia Vera Completed NCT01243073 Phase 2 Imetelstat
43 Open-Label Study of Oral CEP-701 (Lestaurtinib) in Patients With Polycythemia Vera or Essential Thrombocytosis Completed NCT00586651 Phase 2 lestaurtinib
44 Safety Study of Pegylated Interferon Alpha 2b to Treat Polycythemia Vera Completed NCT01193699 Phase 1, Phase 2 PEG-P-INF alpha-2b (P1101)
45 Study to Determine the Safety and Efficacy of Ruxolitinib (INCB018424) in Patients With Polycythemia Vera or Essential Thrombocythemia Completed NCT00726232 Phase 2 Ruxolitinib
46 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
47 Open Label Ruxolitinib (INCB018424) in Patients With Myelofibrosis and Post Polycythemia Vera/Essential Thrombocythemia Myelofibrosis Completed NCT00509899 Phase 1, Phase 2 Ruxolitinib
48 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 Momelotinib
49 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 Momelotinib
50 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 CYT387

Search NIH Clinical Center for Primary Polycythemia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: polycythemia, primary familial and congenital

Sources

Genetic Tests for Primary Polycythemia

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Genetic tests related to Primary Polycythemia:

# Genetic test Affiliating Genes
1 Familial Erythrocytosis 29
Sources

Anatomical Context for Primary Polycythemia

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MalaCards organs/tissues related to Primary Polycythemia:

41
Bone, Myeloid, Neutrophil, T Cells, Bone Marrow
Sources

Publications for Primary Polycythemia

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Articles related to Primary Polycythemia:

(show all 49)
# Title Authors Year
1
A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. ( 29514032 )
2018
2
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis. ( 30507031 )
2018
3
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. ( 29891534 )
2018
4
Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)] in a Chinese Family as a Cause of Familial Erythrocytosis. ( 27240426 )
2016
5
Clinical utility gene card for: familial erythrocytosis. ( 22274579 )
2012
6
Identification of JAK2 mutations in canine primary polycythemia. ( 21320566 )
2011
7
[Mutations in hypoxia-inducible factor and its regulatory molecules in familial erythrocytosis]. ( 19915370 )
2009
8
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. ( 18184961 )
2008
9
A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis. ( 18508787 )
2008
10
Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway. ( 18711622 )
2008
11
The HIF2A gene in familial erythrocytosis. ( 18450610 )
2008
12
The HIF2A gene in familial erythrocytosis. ( 18456917 )
2008
13
The HIF2A gene in familial erythrocytosis. ( 18456918 )
2008
14
Familial erythrocytosis: molecular links to red blood cell control. ( 18591620 )
2008
15
Overexpression of SOCS-2 and SOCS-3 genes reverses erythroid overgrowth and IGF-I hypersensitivity of primary polycythemia vera (PV) cells. ( 17325857 )
2007
16
Isolated trochlear nerve palsy as a presenting feature of primary polycythemia rubra vera. ( 15180853 )
2004
17
Concomitant primary polycythemia vera and follicle center cell non-Hodgkin lymphoma: a case report and review of the literature. ( 12533050 )
2002
18
A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. ( 11929803 )
2002
19
Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. ( 10498627 )
1999
20
A human erythropoietin receptor gene mutant causing familial erythrocytosis is associated with deregulation of the rates of Jak2 and Stat5 inactivation. ( 9923445 )
1999
21
Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. ( 9649565 )
1998
22
Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. ( 9192789 )
1997
23
The erythropoietin receptor gene is not linked with the polycythemia phenotype in a family with autosomal dominant primary polycythemia. ( 9394420 )
1997
24
Sensory ataxic neuropathy with axonal stasis in a case of primary polycythemia : electrophysiological and morphological study. ( 29542649 )
1996
25
Haemoglobin Hallamshire (beta146 HIS --> TYR): a new high oxygen affinity haemoglobin responsible for familial erythrocytosis. ( 9054694 )
1996
26
Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia. ( 8174675 )
1994
27
Familial erythrocytosis genetically linked to erythropoietin receptor gene. ( 8093406 )
1993
28
Familial erythrocytosis with over-production of erythropoietin. ( 6667599 )
1983
29
Diagnosis of canine primary polycythemia and management with hydroxyurea. ( 7061327 )
1982
30
Autosomal Dominant familial erythrocytosis due to autonomous erythropoietin production. ( 7306703 )
1981
31
Hemoglobin Pitie-Salpetriere beta 34 (B16) Val replaced by Phe. A new high oxygen affinity variant associated with familial erythrocytosis. ( 7417488 )
1980
32
Familial erythrocytosis. ( 504970 )
1979
33
Erythropoiesis in familial erythrocytosis. ( 850518 )
1977
34
N-acetyl-beta-glucosaminidase in lymphocytes of patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia. ( 996426 )
1976
35
Activity and intracellular localization of lysosomal acid phosphatase in lymphocytes from patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia. ( 1025804 )
1976
36
Hemoglobin Wood beta97(FG4) His replaced by Leu. A new high-oxygen-affinity hemoglobin associated with familial erythrocytosis. ( 1164511 )
1975
37
Recessive familial erythrocytosis: aspects of marrow regulation in two families. ( 4694081 )
1973
38
Hemoglobin brigham (alpha2Abeta2100 Pro--Leu). Hemoglobin variant associated with familial erythrocytosis. ( 4719677 )
1973
39
Two cases of familial erythrocytosis with increased erythropoietin activity in plasma and urine. ( 4746102 )
1973
40
Familial erythrocytosis due to electrophoretically undetectable hemoglobin with impaired oxygen dissociation (hemoglobin Malmö, alpha 2 beta 2 97 gln). ( 5128393 )
1971
41
Familial erythrocytosis. A description of three families, one with hemoglobin Ypsilanti. ( 5687529 )
1968
42
Primary familial erythrocytosis. ( 6023479 )
1967
43
Benign familial erythrocytosis. Report of three cases and a review of the literature. ( 5946371 )
1966
44
Daraprim in the treatment of primary polycythemia. ( 13716341 )
1960
45
Blood basophils in primary polycythemia. ( 14400719 )
1959
46
Radioactive phosphorus in the treatment of primary polycythemia (vera). ( 13359507 )
1956
47
Evaluation of radiophosphorus therapy in primary polycythemia. ( 14850278 )
1951
48
The therapeutic application of radioactive phosphorus with special reference to the treatment of primary polycythemia and chronic myeloid leukemia. ( 15407496 )
1949
49
Radiophosphorus as the treatment of choice in primary polycythemia. ( 20998219 )
1946
Sources

Variations for Primary Polycythemia

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Expression for Primary Polycythemia

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Search GEO for disease gene expression data for Primary Polycythemia.
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Pathways for Primary Polycythemia

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

(show all 37)
# Super pathways Score Top Affiliating Genes
1
TGF-Beta Pathway 64
Show member pathways
 13.38 EPO EPOR IL3 JAK1 JAK2 MPL
2
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 13.17 ABL1 CD177 IL3 JAK1 JAK2 MPL
3
PI3K-Akt signaling pathway 37
Show member pathways
 12.84 EPO EPOR IL3 JAK1 JAK2
4
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 65
Show member pathways
 12.65 JAK1 JAK2 MPL SOCS3
5
Pathways in cancer 37
12.48 ABL1 EGLN1 EPO EPOR IL3 JAK1
6
NF-kappaB Signaling 4
12.35 IL3 JAK1 JAK2 MPL SOCS3
7
ErbB signaling pathway 1 37
Show member pathways
 12.32 ABL1 EGLN1 JAK1 VHL
8
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.13 ABL1 IL3 JAK1 SOCS3
9
EGF/EGFR Signaling Pathway 1
12.05 ABL1 JAK1 JAK2
10
G beta-gamma signalling through PI3Kgamma 66
Show member pathways
 12.02 IL3 JAK1 JAK2
11
Tyrosine Kinases / Adaptors 4
11.99 ABL1 JAK2 SOCS3
12
IL-2 Signaling Pathway 1
Show member pathways
 11.95 JAK1 JAK2 SOCS3
13
JAK-STAT signaling pathway (KEGG) 37
Show member pathways
 11.92 ABL1 EPO EPOR IL3 JAK1 JAK2
14
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.87 EPO IL3 MPL
15
Interleukin-4 and 13 signaling 66
11.86 JAK1 JAK2 SOCS3
16
Kit receptor signaling pathway 1
Show member pathways
 11.86 EPO EPOR IL3 JAK1 JAK2
17
Visual Cycle in Retinal Rods 64
11.78 JAK2 MPL SOCS3
18
HIF-1 signaling pathway 37
11.77 EGLN1 EPO VHL
19
Hematopoietic cell lineage 37
11.75 EPO EPOR IL3
20
Immune response IL-2 activation and signaling pathway 22
Show member pathways
 11.73 IL3 JAK1 JAK2 SOCS3
21
IL6-mediated signaling events 1
Show member pathways
 11.68 JAK1 JAK2 SOCS3
22
Development EPO-induced Jak-STAT pathway 22
Show member pathways
 11.66 EPO EPOR JAK2 SOCS3
23
IL4-mediated signaling events 1
11.53 JAK1 JAK2 SOCS3
24
Interleukin-6 family signaling 66
Show member pathways
 11.49 JAK1 JAK2 SOCS3
25
HIF1Alpha Pathway 64
11.44 EGLN1 EPO VHL
26
Interleukin-11 Signaling Pathway 1
11.34 JAK1 JAK2 SOCS3
27
Paxillin-dependent events mediated by a4b1 1
Show member pathways
 11.33 EPO EPOR JAK2
28
Jak/STAT Signaling Pathway Intracellular Regulation 65
11.27 JAK1 JAK2 SOCS3
29
Type II interferon signaling (IFNG) 1
11.22 JAK1 JAK2 SOCS3
30
Development_Thrombopoetin signaling via JAK-STAT pathway 22
11.18 JAK2 MPL SOCS3
31
HIF-2-alpha transcription factor network 1
11.16 EGLN1 EPO VHL
32
Development_Leptin signaling via JAK/STAT and MAPK cascades 22
Show member pathways
 11.15 JAK2 SOCS3
33
Immune response_IL-12 signaling pathway 22
Show member pathways
 11.13 JAK2 SOCS3
34
Jak-Stat Signaling Pathway (sino) 67
11.11 ABL1 EPO EPOR IL3 JAK1 JAK2
35
G-protein signaling_K-RAS regulation pathway 22
11.09 EPO EPOR
36
Peginterferon alpha-2a/Peginterferon alpha-2b Pathway (Hepatocyte), Pharmacodynamics 61
Show member pathways
 11.01 JAK1 SOCS3
37
Immune response_Oncostatin M signaling via JAK-Stat in human cells 22
10.78 JAK1 JAK2 SOCS3
Sources

GO Terms for Primary Polycythemia

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine phosphorylation GO:0018108 9.73 ABL1 IL3 JAK1 JAK2
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.63 ABL1 IL3 JAK2
3 positive regulation of cell differentiation GO:0045597 9.58 JAK2 SOCS3 VHL
4 JAK-STAT cascade GO:0007259 9.54 JAK2 SOCS3
5 negative regulation of cell-cell adhesion GO:0022408 9.52 ABL1 JAK2
6 negative regulation of JAK-STAT cascade GO:0046426 9.51 SOCS3 VHL
7 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.5 EGLN1 EPO VHL
8 interleukin-27-mediated signaling pathway GO:0070106 9.49 JAK1 JAK2
9 interleukin-35-mediated signaling pathway GO:0070757 9.48 JAK1 JAK2
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.46 EPO IL3 JAK2 SOCS3
11 interleukin-6-mediated signaling pathway GO:0070102 9.43 JAK1 JAK2 SOCS3
12 erythropoietin-mediated signaling pathway GO:0038162 9.37 EPO EPOR
13 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.13 JAK1 JAK2 SOCS3
14 cytokine-mediated signaling pathway GO:0019221 9.1 EPOR IL3 JAK1 JAK2 MPL SOCS3

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

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.54 CALR EGLN1 TET2
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.5 IL3 JAK1 JAK2
3 ferrous iron binding GO:0008198 9.4 EGLN1 TET2
4 growth hormone receptor binding GO:0005131 9.26 JAK1 JAK2
5 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.13 ABL1 JAK1 JAK2
6 protein tyrosine kinase activity GO:0004713 8.92 ABL1 IL3 JAK1 JAK2
7 protein binding GO:0005515 10 ABL1 ASXL1 CALR CD177 DPM1 EGLN1
Sources

Sources for Primary Polycythemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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