MCID: PLY018
MIFTS: 59

Polycythemia malady

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

Summaries for Polycythemia

About this section


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

MalaCards based summary: Polycythemia, also known as erythrocythemia, is related to myelofibrosis and primary polycythemia. An important gene associated with Polycythemia is CD177 (CD177 molecule), and among its related pathways are G protein signaling K RAS regulation pathway and Development Leptin signaling via JAK STAT and MAPK cascades. The compounds pp 100 and erex have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and myeloid, and related mouse phenotypes are liver/biliary system and skeleton.

Aliases & Classifications for Polycythemia

About this section
Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 57SNOMED-CT, 34MeSH, 39NCIt
See all sources

Polycythemia, Aliases & Descriptions:

Name: Polycythemia 8 10 44 62
 
Erythrocythemia 8 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:8432
MeSH34 D011086
NCIt39 C26863

Related Diseases for Polycythemia

About this section

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 257)
idRelated DiseaseScoreTop Affiliating Genes
1myelofibrosis31.5THPO, EPO, JAK2
2primary polycythemia31.3EPOR, EPO, JAK2
3hemangioblastoma31.0EPO, EPOR
4acquired polycythemia30.9EPO, EPOR, JAK2
5arteriovenous fistula30.5EPO
6purpura30.5THPO
7splenomegaly30.4EPO, JAK2, THPO, MPL
8hypersplenism30.4THPO
9hemoglobinopathy30.2EPO, G6PD
10erythrocytosis29.9MPL, EPOR, CD177, KITLG, IL3, JAK2
11pancytopenia29.6EPO, IL3, MPL, THPO
12myeloma29.5KITLG, JAK2, EPOR, EPO, IL3
13polycythemia vera29.5CD177, KITLG, THPO, PTPN6, MPL, SOCS3
14thrombocytosis29.5THPO, MPL, EPOR, EPO, JAK2, IL3
15non-hodgkin lymphoma29.5JAK2, IL3, KITLG
16sarcoma29.5KITLG, THPO, JAK2
17adenocarcinoma29.4EPOR, PTPN6, SOCS3, JAK2, KITLG
18myeloid leukemia29.4MPL, KITLG, THPO, PTPN6, SOCS3, JAK2
19thrombocytopenia29.3MPL, ITGB3, IL3, KITLG, THPO, EPO
20leukemia28.9CD177, IL3, THPO, PTPN6, MPL, SOCS3
21refractory anemia28.9THPO, MPL, EPOR, EPO, JAK2, IL3
22myelodysplastic syndromes28.7CD177, KITLG, THPO, MPL, EPOR, EPO
23chronic myeloid leukemia27.9KITLG, CD177, THPO, PTPN6, MPL, SOCS3
24essential thrombocythemia10.9
25thrombocythemia 110.5THPO
26hypermanganesemia with dystonia polycythemia and cirrhosis10.5
27pyruvate kinase deficiency10.4G6PD
28endotheliitis10.4
29lysinuric protein intolerance10.4G6PD
30bone marrow cancer10.4JAK2, MPL
31stress polycythemia10.4
32cerebritis10.4
33hypertension10.3
34paraganglioma10.3
35hypoxia10.3
36thrombocytopenia due to platelet alloimmunization10.3MPL, THPO
37transient erythroblastopenia of childhood10.3KITLG, EPO
38microcytic anemia10.3EPO, G6PD
39leukemoid reaction10.3IL3
40systemic mastocytosis10.3JAK2, KITLG
41erythropoietin polycythemia10.3
42hepatitis10.2
43beta thalassemia10.2EPO, G6PD
44acute myeloid leukemia10.2
45chronic neutrophilic leukemia10.2
46chorea10.2
47hepatoblastoma10.2THPO, MPL, EPOR
48sickle cell disease10.2EPOR, G6PD, EPO
49diamond-blackfan anemia10.2EPO, IL3
50iron metabolism disease10.2EPO, MPL, G6PD

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

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

MalaCards organs/tissues related to Polycythemia:

32
Bone marrow, Bone, Myeloid, Endothelial, Neutrophil, Liver, Lung, Testes, Heart, Kidney, T cells, B cells, Whole blood, Spleen, Brain, Cortex, Cerebellum, Spinal cord, Skin, Placenta, Prostate, Testis, Monocytes, Fetal brain, Adrenal cortex

Animal Models for Polycythemia or affiliated genes

About this section

Publications for Polycythemia

About this section

Articles related to Polycythemia:

(show top 50)    (show all 920)
idTitleAuthorsYear
1
Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis. (25037629)
2014
2
How I treat Polycythemia vera. (25278584)
2014
3
Concomitant JAK2 V617F-positive polycythemia vera and B-cell chronic lymphocytic leukemia in three patients originating from two separate hematopoietic stem cells. (23280542)
2013
4
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
5
Macrophages support pathological erythropoiesis in polycythemia vera and I^-thalassemia. (23502961)
2013
6
Paraneoplastic symptoms: cachexia, polycythemia, and hypercalcemia are, respectively, related to vascular endothelial growth factor (VEGF) expression in renal clear cell carcinoma. (22534085)
2013
7
Polycythemia vera: current pharmacotherapy and future directions. (23480062)
2013
8
Acute embolic cerebral ischemia as an initial presentation of polycythemia vera: a case report. (23683307)
2013
9
Impending anterior ischemic optic neuropathy with elements of retinal vein occlusion in a patient on interferon for polycythemia vera. (23152654)
2012
10
Limitations of Cerebral Oxygenation Monitoring by Near-Infrared Spectroscopy in Children With Cyanotic Congenital Heart Disease and Profound Polycythemia. (23089260)
2012
11
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
12
Evaluation of hemostatic balance in blood from patients with polycythemia vera by means of thromboelastography: the effect of isovolemic erythrocytapheresis. (22098131)
2012
13
Cerebral infarction due to smoker's polycythemia. (22675101)
2011
14
Extent of hematopoietic involvement by TET2 mutations in JAK2Va8PA^a8^F polycythemia vera. (21273266)
2011
15
Reversible abnormal functional neuroimaging presentations in polycythemia vera with chorea. (21559940)
2011
16
Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia. (21685897)
2011
17
Partial exchange transfusion for polycythemia hyperviscosity syndrome. (21365533)
2011
18
Twin anemia polycythemia sequence from a prenatal perspective. (20373492)
2010
19
Hematological characteristics in neonates with twin anemia-polycythemia sequence (TAPS). (20087909)
2010
20
Extreme polycythemia in recipient twin with twin-to-twin transfusion syndrome: a case report. (19372698)
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 is not initiated by JAK2V617F mutation. (17198871)
2007
30
Polycythemia vera and JAK-2 mutation in childhood: a case report]. (17693067)
2007
31
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
32
Anticoagulation after coronary artery surgery in patients with polycythemia vera: report of two cases. (17803581)
2007
33
Hematopoietic cell transplantation as curative therapy for idiopathic myelofibrosis, advanced polycythemia vera, and essential thrombocythemia. (17317589)
2007
34
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
35
Minimal molecular response in polycythemia vera patients treated with imatinib or interferon alpha. (16352805)
2006
36
Vascular complications in Chuvash polycythemia. (16673284)
2006
37
Subarachnoid hemorrhage and diplopia as initial presentation of polycythemia vera. (15761220)
2005
38
Karyotype and molecular cytogenetic studies in polycythemia vera. (15865876)
2005
39
Bone marrow histopathology and biological markers as specific clues to the differential diagnosis of essential thrombocythemia, polycythemia vera and prefibrotic or fibrotic agnogenic myeloid metaplasia. (15048058)
2004
40
The rate of progression to polycythemia vera or essential thrombocythemia in patients with erythrocytosis or thrombocytosis. (13679323)
2003
41
Posttranslational processing of the thrombopoietin receptor is impaired in polycythemia vera. (10515857)
1999
42
Historical perspective on the treatment of essential thrombocythemia and polycythemia vera. (9930553)
1999
43
Interleukin-10 inhibits erythropoietin-independent growth of erythroid bursts in patients with polycythemia vera. (9731054)
1998
44
Pathogenesis of polycythemia vera. (9549927)
1998
45
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
46
Megakaryoblastic transformation associated with disseminated intravascular coagulation in the course of polycythemia vera: a case report]. (1602615)
1992
47
Polycythemia vera terminating in chronic neutrophilic leukemia: report of a case. (2399908)
1990
48
Stress polycythemia. (3837011)
1985
49
Hemoglobin Palmerston North beta 23 (B5) Val replaced by Phe. A new variant identified in a patient with polycythemia. (7161106)
1982
50
Polycythemia following folic acid and vitamin B12 treatment of anticonvulsant-induced megaloblastic anemia. (5472894)
1970

Variations for Polycythemia

About this section

Expression for genes affiliated with Polycythemia

About this section
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

Pathways related to Polycythemia according to GeneCards/GeneDecks:

(show all 46)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9EPOR, EPO
2
Show member pathways
9.8JAK2, SOCS3
3
Show member pathways
9.8JAK2, SOCS3
49.8JAK2, SOCS3
59.8SOCS3, JAK2
69.8SOCS3, JAK2
79.8SOCS3, JAK2
8
Show member pathways
Paxillin-independent events mediated by a4b1 and a4b737
a4b1 and a4b7 Integrin signaling37
9.6EPOR, JAK2, EPO
99.4PTPN6, JAK2, SOCS3
109.4JAK2, SOCS3, PTPN6
119.4JAK2, PTPN6, SOCS3
129.3JAK2, SOCS3, KITLG
13
Show member pathways
9.2KITLG, JAK2, PTPN6
149.2SOCS3, JAK2, ITGB3
15
Show member pathways
9.1CD177, ITGB3, PTPN6
16
Show member pathways
9.1MPL, THPO, ITGB3
17
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
9.1MPL, THPO, SOCS3, JAK2
18
Show member pathways
EPO Receptor Signaling37
EPO signaling pathway37
8.8JAK2, EPO, EPOR, SOCS3, PTPN6
198.7ITGB3, JAK2, PTPN6, SOCS3
20
Show member pathways
8.7THPO, KITLG, IL3
218.7KITLG, IL3, PTPN6
22
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
8.6EPOR, PTPN6, EPO, JAK2, KITLG
23
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway60
8.6PTPN6, THPO, JAK2, SOCS3, MPL
24
Show member pathways
8.5EPOR, EPO, JAK2, ITGB3, PTPN6
25
Show member pathways
8.5IL3, JAK2, SOCS3, PTPN6
26
Show member pathways
8.5PTPN6, SOCS3, IL3, JAK2
27
Show member pathways
Immune response IL 3 activation and signaling pathway60
8.5IL3, JAK2, SOCS3, PTPN6
288.5SOCS3, PTPN6, IL3, JAK2
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
8.5EPO, EPOR, JAK2, ITGB3, KITLG
30
Show member pathways
8.4THPO, IL3, JAK2, KITLG
31
Show member pathways
8.4THPO, KITLG, IL3, EPOR
32
Show member pathways
8.4KITLG, IL3, THPO, EPOR
33
Show member pathways
8.4IL3, KITLG, EPOR, THPO
34
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells37
8.3IL3, JAK2, PTPN6, ITGB3
35
Show member pathways
8.1PTPN6, MPL, JAK2, CD177, ITGB3, THPO
36
Show member pathways
8.1THPO, ITGB3, IL3, KITLG
37
Show member pathways
8.0PTPN6, KITLG, THPO, JAK2, IL3
38
Show member pathways
7.8IL3, ITGB3, EPOR, THPO, KITLG
397.7EPO, KITLG, IL3, ITGB3, JAK2, EPOR
40
Show member pathways
Type III interferon signaling37
7.6MPL, PTPN6, IL3, JAK2, EPO, EPOR
41
Show member pathways
7.6EPO, JAK2, IL3, KITLG, SOCS3, MPL
427.5IL3, THPO, EPOR, KITLG, EPO, ITGB3
43
Show member pathways
7.5JAK2, ITGB3, KITLG, EPOR, THPO, IL3
44
Show member pathways
7.5KITLG, JAK2, EPOR, THPO, IL3, ITGB3
45
Show member pathways
7.5JAK2, EPOR, THPO, ITGB3, IL3, KITLG
46
Show member pathways
6.5IL3, KITLG, JAK2, EPO, EPOR, ITGB3

Compounds for genes affiliated with Polycythemia

About this section

Compounds related to Polycythemia according to GeneCards/GeneDecks:

(show top 50)    (show all 106)
idCompoundScoreTop Affiliating Genes
1pp 1004410.0EPO, EPOR, JAK2
2erex449.8EPOR, EPO
3megapoietin449.7MPL, THPO
4anagrelide44 1110.6THPO, MPL, JAK2, EPO
5lenalidomide44 1110.4EPO, EPOR, IL3
6pkh 2449.2KITLG, IL3
7mafosfamide449.1THPO, IL3, KITLG
8gf 109203x44 6110.0THPO, KITLG, JAK2, PTPN6
9polyethylene glycol449.0THPO, MPL, G6PD, KITLG
10pixy321448.9THPO, KITLG, IL3, EPO
11amifostine44 119.9THPO, KITLG, EPO, IL3
12filgrastim44 119.9IL3, THPO, EPO, KITLG
13gm-csf44 289.8EPO, KITLG, IL3, THPO
14ribavirin44 50 1110.8IL3, SOCS3, EPO, G6PD
15carboplatin44 50 1110.7EPO, THPO, KITLG, IL3
16methylcellulose448.6THPO, EPOR, EPO, KITLG, IL3
17hydroxyurea44 50 1110.6THPO, KITLG, JAK2, IL3, EPO
18herbimycin a44 619.6PTPN6, JAK2, KITLG, IL3
19phosphotyrosine448.6PTPN6, SOCS3, EPOR, JAK2, IL3
20imatinib44 50 1110.5KITLG, JAK2, EPO, THPO, IL3
21butyrate448.5JAK2, KITLG, IL3, THPO, EPO
22cytarabine44 50 1110.4KITLG, EPO, IL3, THPO, PTPN6
23wortmannin448.4KITLG, THPO, JAK2, IL3, EPOR
24valine448.4IL3, G6PD, PTPN6, JAK2
25iron44 249.4EPO, EPOR, KITLG, THPO, ITGB3, MPL
26nitric oxide44 24 1110.4SOCS3, PTPN6, EPOR, THPO, JAK2, KITLG
27oxygen44 249.3G6PD, THPO, EPO, JAK2, KITLG, EPOR
28lysine448.3ITGB3, KITLG, SOCS3, MPL, THPO, JAK2
29ly294002448.3KITLG, IL3, JAK2, EPO, THPO, EPOR
30aspirin44 50 28 2411.2THPO, MPL, G6PD, KITLG, ITGB3, JAK2
31genistein44 28 61 2 24 1113.2THPO, PTPN6, KITLG, IL3, JAK2
32cisplatin44 50 61 1111.1EPOR, KITLG, G6PD, EPO, IL3, JAK2
33lactate448.1EPO, G6PD, IL3, KITLG, THPO
34rapamycin448.0IL3, THPO, G6PD, JAK2, KITLG, EPO
35actinomycin d448.0EPOR, IL3, KITLG, JAK2, G6PD, THPO
36thymidine44 248.8PTPN6, EPOR, THPO, EPO, KITLG, IL3
375-aza-2deoxycytidine447.8IL3, THPO, PTPN6, SOCS3, EPO, JAK2
38h2o2447.8THPO, PTPN6, G6PD, JAK2, KITLG, IL3
39agar447.7EPOR, THPO, G6PD, MPL, JAK2, KITLG
40vegf447.7EPOR, ITGB3, JAK2, EPO, MPL, PTPN6
41lipid447.7SOCS3, KITLG, PTPN6, EPOR, ITGB3, G6PD
42creatinine447.6THPO, EPO, KITLG, IL3, G6PD
43cysteine447.6ITGB3, JAK2, EPOR, THPO, MPL, IL3
44glucose447.4SOCS3, PTPN6, KITLG, ITGB3, EPOR, JAK2
45gp 130447.1THPO, PTPN6, IL3, KITLG, MPL, EPOR
46phosphatidylinositol447.1IL3, EPO, KITLG, EPOR, SOCS3, MPL
47alanine447.1ITGB3, KITLG, JAK2, EPOR, MPL, PTPN6
48serine446.6ITGB3, KITLG, JAK2, G6PD, EPOR, SOCS3
49estrogen446.6KITLG, ITGB3, THPO, PTPN6, SOCS3, IL3
50tyrosine446.3THPO, PTPN6, MPL, CD177, KITLG, IL3

GO Terms for genes affiliated with Polycythemia

About this section

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

Sources for Polycythemia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet