MCID: ERY013
MIFTS: 48

Erythrocytosis malady

Summaries for Erythrocytosis

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 Polycythemia (also known as polycythaemia or polyglobulia) is a disease state in which the proportion of... more...

MalaCards: Erythrocytosis is related to polycythemia vera and thrombocytosis. An important gene associated with Erythrocytosis is HBA2 (hemoglobin, alpha 2), and among its related pathways are Oxygen-dependent Asparagine Hydroxylation of Hypoxia-inducible Factor Alpha and TGF-Beta Pathway. The compounds gm-csf and butyrate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, whole blood and cerebellum, and related mouse phenotypes are integument and tumorigenesis.

Aliases & Classifications for Erythrocytosis

Sources:
47OMIM, 45Novoseek, 61UMLS
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Aliases & Descriptions:

erythrocytosis 47 45 61


Related Diseases for Erythrocytosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the familial erythrocytosis 2 family:

familial erythrocytosis, 1 familial erythrocytosis 3
familial erythrocytosis 4 erythrocytosis

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

(show top 50)    (show all 179)
idRelated DiseaseScoreTop Affiliating Genes
1polycythemia vera35.6EPOR, EPO, CD177, MPL, STAT5A, JAK2
2thrombocytosis35.2JAK2, MPL, KITLG, IL11, IL3, EPOR
3adenoma35.1VHL, STAT5A, KITLG, SETD2
4acute leukemia34.8JAK2, STAT5A, MPL, EPO, EPOR, HBA2
5adenocarcinoma34.8VHL, JAK2, STAT5A, AGTR1, HIF1A, EPOR
6aplastic anemia34.8MPL, EPO, IL3, IL11, KITLG
7myeloproliferative disorder34.8KITLG, IL11, IL3, EPOR, EPO, CD177
8primary polycythemia30.7EPOR, EPO, EGLN1, STAT5A, JAK2, VHL
9thalassemia30.3EPO, HBA2, HBB
10paraganglioma30.2VHL, HIF1A
11hemochromatosis30.0HBB
12hypoglycemia30.0HIF1A, HBA2, SETD2
13pheochromocytoma30.0VHL, HIF1A, EPAS1, EPOR, SETD2
14beta thalassemia29.8HBA2, HBB
15polycystic kidney disease29.8VHL, EPO, HBA2
16alpha thalassemia29.8HBA2, HBB
17deficiency anemia13.3ACE, KITLG, IL11, IL3, HBB, HBA2
18severe congenital neutropenia13.3KITLG, IL3, JAK2
19chronic myeloid leukemia13.3JAK2, STAT5A, MPL, CD177, EPO, EPOR
20acute lymphocytic leukemia13.3JAK2, HLF, MPL, EPOR, IL3, KITLG
21acute myocardial infarction13.3AGTR1, KITLG, ACE, SETD2
22asthma13.3KITLG, IL11, IL3, STAT5A
23chronic kidney failure13.3AGTR1, EPO, EPOR, KITLG, ACE
24hematologic cancer13.3JAK2, STAT5A, MPL, IL3, IL11, KITLG
25leukemia13.3CD177, MPL, STAT5A, HLF, JAK2, EPO
26melanoma13.3JAK2, STAT5A, HIF1A, EPOR, KITLG, SETD2
27multiple sclerosis13.3KITLG
28myeloid leukemia13.3JAK2, STAT5A, MPL, IL3, IL11, KITLG
29myeloma13.3JAK2, STAT5A, EPO, EPOR, IL3, IL11
30neutropenia13.3MPL, CD177, EPO, EPOR, IL3, IL11
31pancreatitis13.3IL11, KITLG
32polycythemia13.3KITLG, VHL, IL3, HBB, HBA2, EPOR
33sarcoma13.3JAK2, HBA2, KITLG
34systemic mastocytosis13.3JAK2, STAT5A, KITLG
35thrombocytopenia13.3MPL, EPO, IL3, IL11, KITLG
36colorectal cancer13.3HIF1A, HBB, KITLG, SETD2
37acute erythroid leukemia13.3KITLG, IL11, IL3, HBB, HBA2, EPOR
38chronic myelomonocytic leukemia13.3KITLG, MPL, STAT5A, JAK2
39transient erythroblastopenia of childhood13.3EPO, KITLG
40mastocytosis13.3KITLG
41myelodysplastic syndromes13.3JAK2, STAT5A, MPL, CD177, EPO, EPOR
42diamond-blackfan anemia 113.3KITLG, IL3, EPO
43refractory anemia13.3IL3, EPOR, EPO, MPL, JAK2, IL11
44erythrocytosis, somatic10.4
45myoma10.3
46familial erythrocytosis, 110.3
47familial erythrocytosis 210.3
48familial erythrocytosis 410.3
49familial erythrocytosis 310.2
50nephrocalcinosis10.2

Graphical network of the top 20 diseases related to Erythrocytosis:



Diseases related to erythrocytosis

Clinical Features for Erythrocytosis

Drugs & Therapeutics for Erythrocytosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Erythrocytosis

Drug clinical trials:

Search ClinicalTrials for Erythrocytosis

Search NIH Clinical Center for Erythrocytosis

Search CenterWatch for Erythrocytosis

Genetic Tests for Erythrocytosis

Anatomical Context for Erythrocytosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Erythrocytosis:

33
Bone marrow, Whole blood, Cerebellum, Heart, Kidney, Liver, Lung, Breast, Ovary, T cells, Fetal liver, Fetal lung, Pituitary

Animal Models for Erythrocytosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Erythrocytosis

Sources:
51PubMed
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Articles related to Erythrocytosis:

(show top 50)    (show all 208)
idTitleAuthorsYear
1
The efficiency of therapeutic erythrocytapheresis compared to phlebotomy in relation to blood volume and delta-hematocrit: an evaluation in hereditary hemochromatosis polycythemia vera and secondary erythrocytosis. (23809828)
2013
2
Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis. (23418310)
2013
3
Isolated erythrocytosis: study of 67 patients and identification of three novel germ-line mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene. (21828119)
2012
4
Hemoglobin Andrew-Minneapolis: hemolytic erythrocytosis and severe iron overload in toxic liver cirrhosis. (23130348)
2012
5
Serum levels of granulocyte colony-stimulating factor in JAK2 V617F-positive vs. negative erythrocytosis. (21645282)
2011
6
JAK2 mutation and disease phenotype: a double L611V/V617F in cis mutation of JAK2 is associated with isolated erythrocytosis and increased activation of AKT and ERK1/2 rather than STAT5. (20182460)
2010
7
Erythrocytosis caused by erythropoietin-producing thymic carcinoma. (20179983)
2010
8
Concurrence of multiple myeloma and idiopathic erythrocytosis. (19999392)
2009
9
The complete evaluation of erythrocytosis: congenital and acquired. (19295544)
2009
10
Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis. (19006225)
2009
11
Mutations in hypoxia-inducible factor and its regulatory molecules in familial erythrocytosis]. (19915370)
2009
12
Triple-way therapeutic approach for paraganglioma-dependent erythrocytosis: drugs and surgery plus "multi-manner" apheresis. (18488156)
2008
13
Influence of angiotensin I-converting enzyme polymorphism on development of post-transplant erythrocytosis in renal graft recipients. (18339134)
2008
14
JAK2 V617F mutation is rare in idiopathic erythrocytosis: a difference from polycythemia vera. (18528646)
2008
15
Examination of platelet function in whole blood under dynamic flow conditions with the cone and plate(let) analyzer: effect of erythrocytosis and thrombocytosis. (17276938)
2007
16
Production of erythropoietin and multiple cytokines by metanephric adenoma results in erythrocytosis. (17610479)
2007
17
Application of PRV-1 mRNA expression level and JAK2V617F mutation for the differentiating between polycytemia vera and secondary erythrocytosis and assessment of treatment by interferon or hydroxyurea. (17852451)
2007
18
JAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosis. (18056003)
2007
19
A rare case of renal oncocytoma associated with erythrocytosis: case report. (16995951)
2006
20
Oxygen sensing: recent insights from idiopathic erythrocytosis. (16687917)
2006
21
Polycythemia vera and idiopathic erythrocytosis: comparison of clinical and laboratory parameters. (15270182)
2004
22
A man with a deltoid swelling and paraneoplastic erythrocytosis: case report. (14981986)
2003
23
Quantification of PRV-1 mRNA distinguishes polycythemia vera from secondary erythrocytosis. (12893745)
2003
24
Soluble P-selectin and thrombomodulin-protein C-Protein S pathway in cyanotic congenital heart disease with secondary erythrocytosis. (14987915)
2003
25
Relative erythrocytosis of patients with end stage renal failure undergoing CAPD. (11921696)
2002
26
Combination of heterozygote blood coagulation factor V Leiden carriage with erythrocytosis as a cause of the hip deep vein thrombosis]. (11899832)
2002
27
A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. (11929803)
2002
28
Erythrocytosis and hydronephrosis in a horseshoe kidney]. (10589125)
1999
29
Association between activation of the renin-angiotensin system and secondary erythrocytosis in patients with chronic obstructive pulmonary disease. (10230744)
1999
30
Losartan, an angiotensin II type 1 receptor antagonist, lowers hematocrit in posttransplant erythrocytosis. (9621296)
1998
31
Erythrocytosis in patients with hepatocarcinoma in alcoholic cirrhosis: ectopic production of erythropoietin?]. (9676132)
1998
32
Effect of the angiotensin-converting enzyme inhibitor enalapril on post-transplant erythrocytosis. (9810784)
1998
33
Treatment of post-transplant erythrocytosis: comparison of lisinopril and theophylline]. (9549290)
1997
34
Postrenal transplant erythrocytosis: the roles of testosterone and erythropoietin. (9128802)
1997
35
"Benign erythrocytosis" and other familial and congenital polycythemias. (8982288)
1996
36
Posttransplant erythrocytosis: a model for the investigation of the pharmacological control of renal erythropoietin production? (8937931)
1996
37
Association of post-renal transplant erythrocytosis and microalbuminuria: response to angiotensin-converting enzyme inhibition. (7573190)
1995
38
Angiotensin-converting enzyme inhibition in the treatment of renal transplant erythrocytosis. Clinical experience and observation of mechanism. (7624954)
1995
39
Angiotensin-converting enzyme inhibitor-induced anemia and treatment for erythrocytosis in renal transplant recipients. (7666600)
1995
40
Role of ACE inhibitors in the treatment of erythrocytosis in patients with renal allograft. (7940809)
1994
41
Regulation of erythropoietin production in a case of congenital erythropoietin-dependent pure erythrocytosis. (8037189)
1994
42
Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. (8506290)
1993
43
Erythropoietin synthesis by tumor cells in a case of meningioma associated with erythrocytosis. (8453106)
1993
44
Erythrocytosis in type I renal tubular acidosis with nephrocalcinosis. (1317531)
1992
45
Erythrocytosis and nephrocalcinosis. (1331889)
1992
46
Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin. (1954391)
1991
47
Von Hippel-Lindau disease and erythrocytosis: radioimmunoassay of erythropoietin in cyst fluid from a brainstem hemangioblastoma. (2027498)
1991
48
Cerebral infarction and high serum levels of muscle-derived enzymes associated with abrupt increase in hematocrit in a patient with secondary erythrocytosis]. (1753434)
1991
49
Hyperreninemia, lysozymuria, and erythrocytosis in Fanconi syndrome with medullary cystic kidney. (6992516)
1980
50
Erythrocytosis associated with cerebellar hemangioblastoma. (13418977)
1957

Genetic Variations for Erythrocytosis

Expression for genes affiliated with Erythrocytosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Erythrocytosis

Search GEO for disease gene expression data for Erythrocytosis.

Pathways for genes affiliated with Erythrocytosis

Sources:
54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 4Cell Signaling Technology, 12EMD Millipore, 30KEGG
See all sources

Pathways related to Erythrocytosis according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3EPAS1, HIF1A
2
Hide members
10.2AGTR1, MPL
310.2VHL, EGLN1, EPAS1
410.2EPOR, EPO, JAK2
510.2VHL, EGLN1, HIF1A
6
Hide members
10.1EPAS1, HIF1A, VHL
710.1EPO, HIF1A, EGLN1
8
Development Thrombopoetin signaling via JAK-STAT pathway
Hide members
10.1MPL, STAT5A, JAK2
910.1JAK2, STAT5A, HIF1A
10
Immune response IL-2 activation and signaling pathway
Hide members
10.1IL3, STAT5A, JAK2
11
Hide members
10.1JAK2, STAT5A, IL3
12
Hide members
10.1EPAS1, HIF1A, EGLN1, VHL
1310.0VHL, EGLN1, HIF1A, EPO
1410.0EPO, HIF1A, EGLN1, VHL
15
Hide members
10.0JAK2, AGTR1, EPO, EPOR
1610.0JAK2, EPO, EPOR, IL3
17
Hide members
10.0JAK2, STAT5A, EPO, EPOR
18
Development EPO-induced Jak-STAT pathway
Hide members
10.0JAK2, STAT5A, EPO, EPOR
1910.0EPOR, EPO, STAT5A, JAK2
2010.0EPO, EPOR, IL3, IL11
21
Development PDGF signaling via STATs and NF-kB
Hide members
10.0JAK2, STAT5A, AGTR1, EPAS1
22
Hide members
10.0ACE, IL3, AGTR1, JAK2
23
Hide members
9.9EPAS1, EPO, HIF1A, EGLN1, VHL
249.9VHL, STAT5A, EGLN1, HIF1A, EPAS1
25
Hide members
9.8JAK2, STAT5A, EPOR, IL3, IL11
26
Hide members
9.7JAK2, STAT5A, MPL, EPOR, IL3, IL11
279.6JAK2, STAT5A, MPL, EPO, EPOR, IL3
28
Hide members
9.6VHL, JAK2, STAT5A, HIF1A, EPOR, IL3

Compounds for genes affiliated with Erythrocytosis

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 50PharmGKB, 24HMDB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Erythrocytosis according to GeneCards/GeneDecks:

(show top 50)    (show all 139)
idCompoundScoreTop Affiliating Genes
1gm-csf45 2911.6STAT5A, IL11
2butyrate4510.6HBA2, IL11, JAK2
3pixy3214510.4IL3, EPO, IL11
4pp 1004510.4JAK2, EPOR, EPO
5pimonidazole4510.4EPOR, EPO, SETD2, HIF1A
6amifostine45 1111.4IL3, IL11, EPO
7filgrastim45 1111.4IL11, IL3, EPO
8cocl24510.4SETD2, HIF1A, EPO, VHL
9glucose4510.3SETD2, IL11, HIF1A, AGTR1
10cobalt chloride4510.3HIF1A, VHL, EPO, SETD2
11methylcellulose4510.3IL3, EPO, IL11, EPOR
12hydroxyurea45 50 1112.3HBA2, HBB, JAK2, IL3, EPO
13anagrelide45 1111.3EPO, MPL, JAK2
14carboplatin45 50 1112.3EPO, IL3, IL11, HIF1A
15il 114510.2IL11, IL3, EPO
1623-diphosphoglycerate4510.2HBA2, HBB, EPO
17deferoxamine45 1111.2HIF1A, SETD2, EPO, STAT5A, VHL
18cobalt45 2411.2SETD2, EPO, HIF1A, VHL
19serine4510.2MPL, VHL, HBB, EPOR, AGTR1, JAK2
20cytarabine45 50 1112.2STAT5A, EPO, IL3, IL11
21nitroglycerin45 1111.2HIF1A, SETD2, ACE, AGTR1
22digoxin45 50 60 11 2414.2ACE, HIF1A, AGTR1, SETD2
23agar4510.1JAK2, MPL, STAT5A, HIF1A, EPOR, IL3
24actinomycin d4510.0VHL, JAK2, AGTR1, HIF1A, EPOR, IL3
25ascorbic acid45 2411.0EGLN1, EPO, IL3, HIF1A, JAK2, SETD2
26gp 1304510.0JAK2, STAT5A, MPL, EPO, EPOR, IL3
27pd 98,0594510.0HIF1A, JAK2, EPAS1, STAT5A, IL3, SETD2
28herbimycin a45 6011.0JAK2, IL11, STAT5A, IL3
295-aza-2deoxycytidine4510.0VHL, JAK2, EPO, IL3
30rapamycin4510.0IL3, VHL, JAK2, STAT5A, HIF1A, EPO
31cisplatin45 50 60 1113.0AGTR1, HIF1A, EPO, EPOR, IL3, SETD2
32genistein45 29 60 2 11 2415.0JAK2, SETD2, IL3, HIF1A, STAT5A, AGTR1
33wortmannin4510.0JAK2, STAT5A, HIF1A, EPOR, IL3, IL11
34imatinib45 50 1112.0JAK2, IL3, EPO, STAT5A
35proline459.9VHL, JAK2, STAT5A, SETD2, HBA2, HIF1A
36ly294002459.9SETD2, IL3, EPO, HIF1A, STAT5A, JAK2
37cyclosporin a45 29 6011.9IL11, HIF1A, AGTR1, STAT5A, JAK2, EPO
38thymidine45 2410.8STAT5A, IL11, JAK2, IL3, HBB, HBA2
39oxygen45 2410.8VHL, EGLN1, STAT5A, EPO, EPAS1, JAK2
40iron45 2410.8HBB, HBA2, EPOR, EPAS1, EPO, HIF1A
41oligonucleotide459.7VHL, HBB, STAT5A, IL11, SETD2, EPOR
42doxorubicin45 50 1111.7IL11, EPOR, HIF1A, IL3, SETD2
43threonine459.7MPL, IL3, JAK2, SETD2, HBA2, HIF1A
44alanine459.7HBA2, JAK2, STAT5A, MPL, AGTR1, HIF1A
45nitric oxide45 11 2411.6STAT5A, HBB, IL11, ACE, EPOR, HIF1A
46cysteine459.6JAK2, IL11, IL3, HBB, STAT5A, MPL
47phosphatidylinositol459.5HIF1A, AGTR1, IL3, IL11, SETD2, EPO
48vegf459.5VHL, JAK2, SETD2, IL11, EPOR, EPAS1
49h2o2459.4JAK2, SETD2, IL3, HBB, AGTR1, HIF1A
50tyrosine459.1EPOR, EPAS1, EPO, CD177, AGTR1, HBA2

GO Terms for genes affiliated with Erythrocytosis

Sources:
16Gene Ontology
See all sources

Cellular components related to Erythrocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:00583310.3HBB, HBA2
2haptoglobin-hemoglobin complexGO:03183810.2HBA2, HBB
3extracellular regionGO:0055769.3EPO, EPOR, HBA2, HBB, IL3, IL11

Biological processes related to Erythrocytosis according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of mast cell apoptotic processGO:03302610.6STAT5A
2positive regulation of mast cell proliferationGO:07066810.6STAT5A
3embryonic hemopoiesisGO:03516210.5HIF1A, IL3
4positive regulation of DNA replicationGO:04574010.4EPO, IL3
5regulation of transcription from RNA polymerase II promoter in response to oxidative stressGO:04361910.4HIF1A, EPAS1
6positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.4IL3, EPO, JAK2
7hemoglobin biosynthetic processGO:04254110.4HIF1A, EPO
8positive regulation of peptidyl-tyrosine phosphorylationGO:05073110.4JAK2, IL3, IL11
9regulation of systemic arterial blood pressure by renin-angiotensinGO:00308110.3AGTR1, ACE
10positive regulation of inflammatory responseGO:05072910.3AGTR1, STAT5A, JAK2
11mammary gland epithelium developmentGO:06118010.3JAK2, STAT5A
12regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:06141810.3EPAS1, EPO, HIF1A, EGLN1, VHL
13oxygen homeostasisGO:03236410.3EGLN1, HIF1A
14cellular response to hypoxiaGO:07145610.2VHL, EGLN1, HIF1A, EPO, EPAS1
15regulation of vasodilationGO:04231210.2ACE, AGTR1
16oxygen transportGO:01567110.2HBB, HBA2
17signal transductionGO:0071659.6JAK2, HIF1A, EPO, EPAS1, EPOR

Molecular functions related to Erythrocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin bindingGO:03172010.3HBA2, HBB
2oxygen transporter activityGO:00534410.3HBA2, HBB
3bradykinin receptor bindingGO:03171110.1AGTR1, ACE
4protein bindingGO:0055158.7AGTR1, EGLN1, STAT5A, JAK2, VHL, HIF1A

Products for genes affiliated with Erythrocytosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Erythrocytosis

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet