MCID: PLY018
MIFTS: 61

Polycythemia malady

Genetic diseases (common), Blood diseases, Immune diseases categories
Download this MalaCard

Summaries for Polycythemia

About this section
Sources:
65Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard
Wikipedia:65 Polycythemia (also known as polycythaemia or polyglobulia) is a disease state in which the proportion of... more...

MalaCards: Polycythemia, also known as polycythemia, nos, is related to polycythemia vera and myelofibrosis. An important gene associated with Polycythemia is CD177 (CD177 molecule), and among its related pathways are G protein signaling K RAS regulation pathway and Immune response Oncostatin M signaling via JAK Stat in human cells. The compounds pp 100 and erex have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related mouse phenotypes are liver/biliary system and skeleton.

Aliases & Classifications for Polycythemia

About this section
Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Blood diseases, Immune diseases


Aliases & Descriptions:

polycythemia 8 10 45 62
polycythemia, nos 8
erythrocythemia 8
polycythaemia 8


External Ids:

Disease Ontology8 DOID:8432
NCIt40 C26863
MeSH35 D011086

Related Diseases for Polycythemia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Primary Polycythemia family:

Polycythemia Due to Hypoxia Acquired Polycythemia
polycythemia

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

(show top 50)    (show all 274)
idRelated DiseaseScoreTop Affiliating Genes
1polycythemia vera31.3CD177, KITLG, THPO, PTPN6, MPL, SOCS3
2myelofibrosis31.2THPO, EPO, JAK2
3primary polycythemia30.9EPOR, EPO, JAK2
4hemangioblastoma30.5EPO, EPOR
5acquired polycythemia30.5EPO, EPOR, JAK2
6erythrocytosis30.5MPL, EPOR, CD177, KITLG, IL3, JAK2
7leukemia30.3CD177, IL3, THPO, PTPN6, MPL, SOCS3
8thrombocytosis30.3THPO, MPL, EPOR, EPO, JAK2, IL3
9splenomegaly30.3EPO, JAK2, THPO, MPL
10myeloid leukemia30.2MPL, KITLG, THPO, PTPN6, SOCS3, JAK2
11myeloproliferative disorder30.0KITLG, IL3, ITGB3, JAK2, EPO, EPOR
12thrombocytopenia30.0MPL, ITGB3, IL3, KITLG, THPO, EPO
13arteriovenous fistula29.9EPO
14purpura29.9THPO
15hypersplenism29.9THPO
16myeloma29.9KITLG, JAK2, EPOR, EPO, IL3
17hemoglobinopathy29.8EPO, G6PD
18chronic myeloproliferative disease29.8JAK2, MPL, THPO
19chronic myelomonocytic leukemia29.8MPL, JAK2, KITLG
20chronic myeloid leukemia29.7KITLG, CD177, THPO, PTPN6, MPL, SOCS3
21sarcoma29.7KITLG, THPO, JAK2
22pancytopenia29.7EPO, IL3, MPL, THPO
23non-hodgkin lymphoma29.7JAK2, IL3, KITLG
24adenocarcinoma29.7EPOR, PTPN6, SOCS3, JAK2, KITLG
25refractory anemia29.5THPO, MPL, EPOR, EPO, JAK2, IL3
26myelodysplastic syndromes29.5CD177, KITLG, THPO, MPL, EPOR, EPO
27essential thrombocythemia10.9
28hypermanganesemia with dystonia polycythemia and cirrhosis10.5
29endotheliitis10.3
30stress polycythemia10.3
31cerebritis10.3
32hypertension10.3
33hypoxia10.3
34erythropoietin polycythemia10.3
35paraganglioma10.3
36hepatitis10.2
37acute myeloid leukemia10.2
38chronic neutrophilic leukemia10.2
39chorea10.2
40focal segmental glomerulosclerosis10.1
41glomerulosclerosis10.1
42myocardial infarction10.1
43papilledema10.1
44pulmonary embolism10.1
45dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease10.1
46erythrocytosis, somatic10.1
47thrombocythemia 110.1THPO
48pyruvate kinase deficiency10.1G6PD
49lysinuric protein intolerance10.1G6PD
50thrombocytopenia due to platelet alloimmunization10.1MPL, THPO

Graphical network of the top 20 diseases related to Polycythemia:



Diseases related to polycythemia

Symptoms for Polycythemia

About this section

Drugs & Therapeutics for Polycythemia

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Polycythemia

Search NIH Clinical Center for Polycythemia

Genetic Tests for Polycythemia

About this section

Anatomical Context for Polycythemia

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Polycythemia:

33
Bone, Bone marrow, Myeloid, Endothelial, Liver, Testes, T cells, Heart, B cells, Lung, Kidney, Testis, Prostate, Cortex, Cerebellum, Fetal brain, Skin, Monocytes, Placenta, Whole blood, Spleen, Spinal cord, Brain, Adrenal cortex

Animal Models for Polycythemia or affiliated genes

About this section
Sources:
37MGI
See all sources

Publications for Polycythemia

About this section
Sources:
52PubMed
See all sources

Articles related to Polycythemia:

(show top 50)    (show all 889)
idTitleAuthorsYear
1
Concomitant JAK2 V617F-positive polycythemia vera and B-cell chronic lymphocytic leukemia in three patients originating from two separate hematopoietic stem cells. (23280542)
2013
2
A phase 2 study of ruxolitinib, an oral JAK1 and JAK2 inhibitor, in patients with advanced polycythemia vera who are refractory or intolerant to hydroxyurea. (24258498)
2013
3
Macrophages support pathological erythropoiesis in polycythemia vera and I^-thalassemia. (23502961)
2013
4
Paraneoplastic symptoms: cachexia, polycythemia, and hypercalcemia are, respectively, related to vascular endothelial growth factor (VEGF) expression in renal clear cell carcinoma. (22534085)
2013
5
Polycythemia vera: current pharmacotherapy and future directions. (23480062)
2013
6
Acute embolic cerebral ischemia as an initial presentation of polycythemia vera: a case report. (23683307)
2013
7
Impending anterior ischemic optic neuropathy with elements of retinal vein occlusion in a patient on interferon for polycythemia vera. (23152654)
2012
8
Limitations of Cerebral Oxygenation Monitoring by Near-Infrared Spectroscopy in Children With Cyanotic Congenital Heart Disease and Profound Polycythemia. (23089260)
2012
9
Detection of JAK2 mutations in paraffin marrow biopsies by high resolution melting analysis: identification of L611S alone and in cis with V617F in polycythemia vera. (22642932)
2012
10
Evaluation of hemostatic balance in blood from patients with polycythemia vera by means of thromboelastography: the effect of isovolemic erythrocytapheresis. (22098131)
2012
11
Severe chest and back pain and bilateral massive adrenal swelling in polycythemia vera: an uncommon case after esophagectomy. (22643542)
2012
12
Cerebral infarction due to smoker's polycythemia. (22675101)
2011
13
Extent of hematopoietic involvement by TET2 mutations in JAK2Va8PA^a8^F polycythemia vera. (21273266)
2011
14
Reversible abnormal functional neuroimaging presentations in polycythemia vera with chorea. (21559940)
2011
15
Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia. (21685897)
2011
16
Partial exchange transfusion for polycythemia hyperviscosity syndrome. (21365533)
2011
17
Twin anemia polycythemia sequence from a prenatal perspective. (20373492)
2010
18
Hematological characteristics in neonates with twin anemia-polycythemia sequence (TAPS). (20087909)
2010
19
Extreme polycythemia in recipient twin with twin-to-twin transfusion syndrome: a case report. (19372698)
2009
20
Polycythemia and chorea. (19139620)
2009
21
The presence of JAK2V617F in primary myelofibrosis or its allele burden in polycythemia vera predicts chemosensitivity to hydroxyurea. (18266209)
2008
22
Sustained major molecular response on interferon alpha-2b in two patients with polycythemia vera. (18481066)
2008
23
Do preoperative anemia and polycythemia affect clinical outcome in patients undergoing major surgery? (17940515)
2008
24
Recurrent thrombosis in patients with polycythemia vera and essential thrombocythemia: incidence, risk factors, and effect of treatments. (18268279)
2008
25
Biomarker analysis in polycythemia vera under interferon-alpha treatment: clonality, EEC, PRV-1, and JAK2 V617F. (17256145)
2007
26
JAK2 617V>F positive polycythemia rubra vera maintained by approximately 18 stochastic stem-cell divisions per year, explaining age of onset by a single rate-limiting mutation. (17452518)
2007
27
Identification of JAK2V617F in patients with polycythemia is highly correlated with conventional criteria for diagnosis of polycythemia vera. (16924638)
2007
28
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. (17267906)
2007
29
Polycythemia vera and JAK-2 mutation in childhood: a case report]. (17693067)
2007
30
A higher JAK2 V617F-mutated clone is observed in platelets than in granulocytes from essential thrombocythemia patients, but not in patients with polycythemia vera and primary myelofibrosis. (17361221)
2007
31
Anticoagulation after coronary artery surgery in patients with polycythemia vera: report of two cases. (17803581)
2007
32
Hematopoietic cell transplantation as curative therapy for idiopathic myelofibrosis, advanced polycythemia vera, and essential thrombocythemia. (17317589)
2007
33
Elevated serum erythropoietin levels in patients with Budd-Chiari syndrome secondary to polycythemia vera: clinical implications for the role of JAK2 mutation analysis. (16827884)
2006
34
Minimal molecular response in polycythemia vera patients treated with imatinib or interferon alpha. (16352805)
2006
35
Vascular complications in Chuvash polycythemia. (16673284)
2006
36
Subarachnoid hemorrhage and diplopia as initial presentation of polycythemia vera. (15761220)
2005
37
Karyotype and molecular cytogenetic studies in polycythemia vera. (15865876)
2005
38
The rate of progression to polycythemia vera or essential thrombocythemia in patients with erythrocytosis or thrombocytosis. (13679323)
2003
39
Posttranslational processing of the thrombopoietin receptor is impaired in polycythemia vera. (10515857)
1999
40
Historical perspective on the treatment of essential thrombocythemia and polycythemia vera. (9930553)
1999
41
Interleukin-10 inhibits erythropoietin-independent growth of erythroid bursts in patients with polycythemia vera. (9731054)
1998
42
Pathogenesis of polycythemia vera. (9549927)
1998
43
Increased basal and induced tyrosine phosphorylation of the insulin-like growth factor I receptor beta subunit in circulating mononuclear cells of patients with polycythemia vera. (7542500)
1995
44
Megakaryoblastic transformation associated with disseminated intravascular coagulation in the course of polycythemia vera: a case report]. (1602615)
1992
45
Polycythemia vera terminating in chronic neutrophilic leukemia: report of a case. (2399908)
1990
46
Stress polycythemia. (3837011)
1985
47
Hemoglobin Palmerston North beta 23 (B5) Val replaced by Phe. A new variant identified in a patient with polycythemia. (7161106)
1982
48
Polycythemia following folic acid and vitamin B12 treatment of anticonvulsant-induced megaloblastic anemia. (5472894)
1970
49
Polycythemia rubra vera with pernicious anemia. Some observations on vitamin B 12 metabolism. (4892033)
1969
50
Polycythemia associated with a hemoglobinopathy. (5913291)
1966

Variations for Polycythemia

About this section

Expression for genes affiliated with Polycythemia

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Polycythemia

Search GEO for disease gene expression data for Polycythemia.

Pathways for genes affiliated with Polycythemia

About this section
Sources:
50PathCards, 60Thomson Reuters, 55Reactome, 38NCBI BioSystems Database, 5Cell Signaling Technology, 54R&D Systems, 53QIAGEN, 30KEGG
See all sources

Pathways related to Polycythemia according to GeneCards/GeneDecks:

(show all 46)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9EPO, EPOR
29.8JAK2, SOCS3
3
Show member pathways
9.8JAK2, SOCS3
49.8JAK2, SOCS3
59.8JAK2, SOCS3
6
Show member pathways
9.8SOCS3, JAK2
79.8SOCS3, JAK2
8
Show member pathways
Paxillin-independent events mediated by a4b1 and a4b738
a4b1 and a4b7 Integrin signaling38
9.6JAK2, EPO, EPOR
99.4PTPN6, SOCS3, JAK2
109.4PTPN6, SOCS3, JAK2
119.4PTPN6, SOCS3, JAK2
129.3KITLG, JAK2, SOCS3
13
Show member pathways
9.2KITLG, JAK2, PTPN6
149.2SOCS3, JAK2, ITGB3
15
Show member pathways
9.1PTPN6, ITGB3, CD177
16
Show member pathways
9.1THPO, MPL, ITGB3
17
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
9.1JAK2, SOCS3, MPL, THPO
18
Show member pathways
EPO Receptor Signaling38
EPO signaling pathway38
8.8JAK2, EPO, EPOR, SOCS3, PTPN6
198.7PTPN6, SOCS3, JAK2, ITGB3
20
Show member pathways
8.7THPO, IL3, KITLG
218.7PTPN6, IL3, KITLG
22
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)38
8.6PTPN6, EPOR, EPO, JAK2, KITLG
23
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway60
8.6THPO, PTPN6, MPL, SOCS3, JAK2
24
Show member pathways
8.5PTPN6, EPOR, EPO, JAK2, ITGB3
258.5PTPN6, SOCS3, JAK2, IL3
26
Show member pathways
8.5IL3, JAK2, SOCS3, PTPN6
27
Show member pathways
8.5IL3, JAK2, SOCS3, PTPN6
28
Show member pathways
Immune response IL 3 activation and signaling pathway60
8.5IL3, JAK2, SOCS3, PTPN6
29
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
8.5EPOR, EPO, JAK2, ITGB3, KITLG
30
Show member pathways
8.4THPO, JAK2, IL3, KITLG
31
Show member pathways
8.4THPO, EPOR, IL3, KITLG
32
Show member pathways
8.4THPO, EPOR, IL3, KITLG
33
Show member pathways
8.4KITLG, IL3, EPOR, THPO
34
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells38
8.3PTPN6, JAK2, ITGB3, IL3
35
Show member pathways
8.1THPO, PTPN6, MPL, JAK2, ITGB3, CD177
36
Show member pathways
8.1THPO, ITGB3, IL3, KITLG
37
Show member pathways
8.0KITLG, IL3, JAK2, PTPN6, THPO
38
Show member pathways
7.8THPO, EPOR, ITGB3, IL3, KITLG
397.7EPOR, EPO, JAK2, ITGB3, IL3, KITLG
40
Show member pathways
Type III interferon signaling38
7.6IL3, PTPN6, MPL, SOCS3, EPOR, EPO
41
Show member pathways
7.6MPL, SOCS3, EPOR, EPO, JAK2, IL3
427.5THPO, EPOR, EPO, ITGB3, IL3, KITLG
43
Show member pathways
7.5THPO, EPOR, JAK2, ITGB3, IL3, KITLG
44
Show member pathways
7.5THPO, EPOR, JAK2, ITGB3, IL3, KITLG
45
Show member pathways
7.5THPO, EPOR, JAK2, ITGB3, IL3, KITLG
46
Show member pathways
6.5THPO, MPL, SOCS3, EPOR, EPO, JAK2

Compounds for genes affiliated with Polycythemia

About this section
Sources:
45Novoseek, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 51PharmGKB, 24HMDB, 3BitterDB
See all sources

Compounds related to Polycythemia according to GeneCards/GeneDecks:

(show top 50)    (show all 106)
idCompoundScoreTop Affiliating Genes
1pp 1004510.0EPO, EPOR, JAK2
2erex459.8EPOR, EPO
3megapoietin459.7MPL, THPO
4anagrelide45 1110.6THPO, MPL, JAK2, EPO
5lenalidomide45 1110.4EPO, EPOR, IL3
6pkh 2459.2KITLG, IL3
7mafosfamide459.1THPO, IL3, KITLG
8gf 109203x45 6110.0THPO, KITLG, JAK2, PTPN6
9polyethylene glycol459.0THPO, MPL, G6PD, KITLG
10pixy321458.9THPO, KITLG, IL3, EPO
11amifostine45 119.9THPO, KITLG, EPO, IL3
12filgrastim45 119.9IL3, THPO, EPO, KITLG
13gm-csf45 299.8EPO, KITLG, IL3, THPO
14ribavirin45 51 1110.8IL3, SOCS3, EPO, G6PD
15carboplatin45 51 1110.7EPO, THPO, KITLG, IL3
16methylcellulose458.6THPO, EPOR, EPO, KITLG, IL3
17hydroxyurea45 51 1110.6THPO, KITLG, JAK2, IL3, EPO
18herbimycin a45 619.6PTPN6, JAK2, KITLG, IL3
19phosphotyrosine458.6PTPN6, SOCS3, EPOR, JAK2, IL3
20imatinib45 51 1110.5KITLG, JAK2, EPO, THPO, IL3
21butyrate458.5JAK2, KITLG, IL3, THPO, EPO
22cytarabine45 51 1110.4KITLG, EPO, IL3, THPO, PTPN6
23wortmannin458.4KITLG, THPO, JAK2, IL3, EPOR
24valine458.4IL3, G6PD, PTPN6, JAK2
25iron45 249.4EPO, EPOR, KITLG, THPO, ITGB3, MPL
26nitric oxide45 24 1110.4SOCS3, PTPN6, EPOR, THPO, JAK2, KITLG
27oxygen45 249.3G6PD, THPO, EPO, JAK2, KITLG, EPOR
28lysine458.3ITGB3, KITLG, SOCS3, MPL, THPO, JAK2
29ly294002458.3KITLG, IL3, JAK2, EPO, THPO, EPOR
30aspirin45 51 29 2411.2THPO, MPL, G6PD, KITLG, ITGB3, JAK2
31genistein45 29 61 3 24 1113.2THPO, PTPN6, KITLG, IL3, JAK2
32cisplatin45 51 61 1111.1EPOR, KITLG, G6PD, EPO, IL3, JAK2
33lactate458.1EPO, G6PD, IL3, KITLG, THPO
34rapamycin458.0IL3, THPO, G6PD, JAK2, KITLG, EPO
35actinomycin d458.0EPOR, IL3, KITLG, JAK2, G6PD, THPO
36thymidine45 248.8PTPN6, EPOR, THPO, EPO, KITLG, IL3
375-aza-2deoxycytidine457.8IL3, THPO, PTPN6, SOCS3, EPO, JAK2
38h2o2457.8THPO, PTPN6, G6PD, JAK2, KITLG, IL3
39agar457.7EPOR, THPO, G6PD, MPL, JAK2, KITLG
40vegf457.7EPOR, ITGB3, JAK2, EPO, MPL, PTPN6
41lipid457.7SOCS3, KITLG, PTPN6, EPOR, ITGB3, G6PD
42creatinine457.6THPO, EPO, KITLG, IL3, G6PD
43cysteine457.6ITGB3, JAK2, EPOR, THPO, MPL, IL3
44glucose457.4SOCS3, PTPN6, KITLG, ITGB3, EPOR, JAK2
45gp 130457.1THPO, PTPN6, IL3, KITLG, MPL, EPOR
46phosphatidylinositol457.1IL3, EPO, KITLG, EPOR, SOCS3, MPL
47alanine457.1ITGB3, KITLG, JAK2, EPOR, MPL, PTPN6
48serine456.6ITGB3, KITLG, JAK2, G6PD, EPOR, SOCS3
49estrogen456.6KITLG, ITGB3, THPO, PTPN6, SOCS3, IL3
50tyrosine456.3THPO, PTPN6, MPL, CD177, KITLG, IL3

GO Terms for genes affiliated with Polycythemia

About this section
Sources:
16Gene Ontology
See all sources

Biological processes related to Polycythemia according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1erythrocyte maturationGO:0432499.9EPO, G6PD
2positive regulation of Ras protein signal transductionGO:0465799.8KITLG, EPO
3JAK-STAT cascadeGO:0072599.7SOCS3, JAK2
4regulation of interferon-gamma-mediated signaling pathwayGO:0603349.7PTPN6, SOCS3, JAK2
5regulation of type I interferon-mediated signaling pathwayGO:0603389.6PTPN6, SOCS3
6JAK-STAT cascade involved in growth hormone signaling pathwayGO:0603979.6JAK2, SOCS3, PTPN6
7interferon-gamma-mediated signaling pathwayGO:0603339.6JAK2, SOCS3, PTPN6
8positive regulation of cell differentiationGO:0455979.5JAK2, SOCS3
9positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.4EPO, JAK2, IL3
10leukocyte migrationGO:0509009.4CD177, ITGB3, PTPN6
11cytokine-mediated signaling pathwayGO:0192219.4JAK2, SOCS3, PTPN6
12embryonic hemopoiesisGO:0351629.2IL3, KITLG
13platelet activationGO:0301689.2ITGB3, MPL, THPO
14positive regulation of DNA replicationGO:0457409.1EPO, IL3, KITLG
15cell proliferationGO:0082839.0THPO, PTPN6, MPL, KITLG
16positive regulation of cell proliferationGO:0082848.8PTPN6, EPO, JAK2, IL3
17positive regulation of peptidyl-tyrosine phosphorylationGO:0507318.5JAK2, ITGB3, IL3, KITLG
18blood coagulationGO:0075968.4CD177, ITGB3, JAK2, MPL, PTPN6, THPO

Molecular functions related to Polycythemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1SH2 domain bindingGO:0421699.7JAK2, PTPN6
2growth factor activityGO:0080838.6KITLG, IL3, THPO
3cytokine activityGO:0051258.4KITLG, IL3, THPO

Products for genes affiliated with Polycythemia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Polycythemia

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet