MCID: ERY013
MIFTS: 37

Erythrocytosis malady

Summaries for Erythrocytosis

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63Wikipedia, 32MalaCards
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Wikipedia:63 Polycythemia (also known as polycythaemia or polyglobulia) is a disease state in which the proportion of... more...

MalaCards: Erythrocytosis is related to polycythemia and polycythemia vera. 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. Related mouse phenotypes are integument and tumorigenesis.

Aliases & Classifications for Erythrocytosis

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46OMIM, 44Novoseek, 60UMLS
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Aliases & Descriptions:

erythrocytosis 46 44 60


Related Diseases for Erythrocytosis

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17GeneCards, 18GeneDecks
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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 185)
idRelated DiseaseScoreTop Affiliating Genes
1polycythemia35.6KITLG, VHL, IL3, HBB, HBA2, EPOR
2polycythemia vera35.5EPOR, EPO, CD177, MPL, STAT5A, JAK2
3thrombocytosis35.1JAK2, MPL, KITLG, IL11, IL3, EPOR
4adenoma35.0VHL, STAT5A, KITLG, SETD2
5acute leukemia34.7JAK2, STAT5A, MPL, EPO, EPOR, HBA2
6adenocarcinoma34.7VHL, JAK2, STAT5A, AGTR1, HIF1A, EPOR
7aplastic anemia34.7MPL, EPO, IL3, IL11, KITLG
8leukemia34.7CD177, MPL, STAT5A, HLF, JAK2, EPO
9myeloma34.7JAK2, STAT5A, EPO, EPOR, IL3, IL11
10primary polycythemia30.6EPOR, EPO, EGLN1, STAT5A, JAK2, VHL
11hemangioblastoma30.4VHL, HIF1A, EPO, EPOR
12von hippel-lindau disease30.2VHL, HIF1A
13paraganglioma30.2VHL, HIF1A
14hypertension30.1ACE, AGTR1
15hepatocellular carcinoma30.1HLF, HIF1A, EPAS1, EPOR, HBB, SETD2
16hemochromatosis30.0HBB
17hypoglycemia30.0HIF1A, HBA2, SETD2
18pheochromocytoma30.0VHL, HIF1A, EPAS1, EPOR, SETD2
19neuroblastoma29.7CD177
20hepatoblastoma29.7MPL, EPOR
21liver cirrhosis29.7MPL, IL11
22myelofibrosis29.7JAK2, EPO
23beta thalassemia29.7HBA2, HBB
24polycystic kidney disease29.7VHL, EPO, HBA2
25pneumonia29.7IL11
26alpha thalassemia29.7HBA2, HBB
27deficiency anemia13.3ACE, KITLG, IL11, IL3, HBB, HBA2
28severe congenital neutropenia13.3KITLG, IL3, JAK2
29chronic myeloid leukemia13.3JAK2, STAT5A, MPL, CD177, EPO, EPOR
30acute lymphocytic leukemia13.3JAK2, HLF, MPL, EPOR, IL3, KITLG
31acute myocardial infarction13.3AGTR1, KITLG, ACE, SETD2
32asthma13.3KITLG, IL11, IL3, STAT5A
33chronic kidney failure13.3AGTR1, EPO, EPOR, KITLG, ACE
34hematologic cancer13.3JAK2, STAT5A, MPL, IL3, IL11, KITLG
35melanoma13.3JAK2, STAT5A, HIF1A, EPOR, KITLG, SETD2
36multiple sclerosis13.3KITLG
37myeloid leukemia13.3JAK2, STAT5A, MPL, IL3, IL11, KITLG
38neutropenia13.3MPL, CD177, EPO, EPOR, IL3, IL11
39pancreatitis13.3IL11, KITLG
40sarcoma13.3JAK2, HBA2, KITLG
41systemic mastocytosis13.3JAK2, STAT5A, KITLG
42thrombocytopenia13.3MPL, EPO, IL3, IL11, KITLG
43colorectal cancer13.3HIF1A, HBB, KITLG, SETD2
44acute erythroid leukemia13.3KITLG, IL11, IL3, HBB, HBA2, EPOR
45chronic myelomonocytic leukemia13.3KITLG, MPL, STAT5A, JAK2
46transient erythroblastopenia of childhood13.3EPO, KITLG
47mastocytosis13.3KITLG
48myelodysplastic syndromes13.3JAK2, STAT5A, MPL, CD177, EPO, EPOR
49myeloproliferative disorder13.3KITLG, IL11, IL3, EPOR, EPO, CD177
50diamond-blackfan anemia 113.3KITLG, IL3, EPO

Graphical network of the top 20 diseases related to Erythrocytosis:



Diseases related to erythrocytosis

Clinical Features for Erythrocytosis

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Drugs & Therapeutics for Erythrocytosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Anatomical Context for Erythrocytosis

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Animal Models for Erythrocytosis or affiliated genes

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36MGI
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Publications for Erythrocytosis

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Genetic Variations for Erythrocytosis

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Expression for genes affiliated with Erythrocytosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 4Cell Signaling Technology, 12EMD Millipore, 29KEGG
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Pathways related to Erythrocytosis according to GeneCards/GeneDecks:

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

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44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Erythrocytosis according to GeneCards/GeneDecks:

(show top 50)    (show all 139)
idCompoundScoreTop Affiliating Genes
1gm-csf44 2811.6STAT5A, IL11
2butyrate4410.6HBA2, IL11, JAK2
3pixy3214410.4IL3, EPO, IL11
4pp 1004410.4JAK2, EPOR, EPO
5pimonidazole4410.4EPOR, EPO, SETD2, HIF1A
6amifostine44 1111.4IL3, IL11, EPO
7filgrastim44 1111.4IL11, IL3, EPO
8cocl24410.4SETD2, HIF1A, EPO, VHL
9glucose4410.3SETD2, IL11, HIF1A, AGTR1
10cobalt chloride4410.3HIF1A, VHL, EPO, SETD2
11methylcellulose4410.3IL3, EPO, IL11, EPOR
12hydroxyurea44 49 1112.3HBA2, HBB, JAK2, IL3, EPO
13anagrelide44 1111.3EPO, MPL, JAK2
14carboplatin44 49 1112.3EPO, IL3, IL11, HIF1A
15il 114410.2IL11, IL3, EPO
1623-diphosphoglycerate4410.2HBA2, HBB, EPO
17deferoxamine44 1111.2HIF1A, SETD2, EPO, STAT5A, VHL
18cobalt44 2411.2SETD2, EPO, HIF1A, VHL
19serine4410.2MPL, VHL, HBB, EPOR, AGTR1, JAK2
20cytarabine44 49 1112.2STAT5A, EPO, IL3, IL11
21nitroglycerin44 1111.2HIF1A, SETD2, ACE, AGTR1
22digoxin44 49 59 11 2414.2ACE, HIF1A, AGTR1, SETD2
23agar4410.1JAK2, MPL, STAT5A, HIF1A, EPOR, IL3
24actinomycin d4410.0VHL, JAK2, AGTR1, HIF1A, EPOR, IL3
25ascorbic acid44 2411.0EGLN1, EPO, IL3, HIF1A, JAK2, SETD2
26gp 1304410.0JAK2, STAT5A, MPL, EPO, EPOR, IL3
27pd 98,0594410.0HIF1A, JAK2, EPAS1, STAT5A, IL3, SETD2
28herbimycin a44 5911.0JAK2, IL11, STAT5A, IL3
295-aza-2deoxycytidine4410.0VHL, JAK2, EPO, IL3
30rapamycin4410.0IL3, VHL, JAK2, STAT5A, HIF1A, EPO
31cisplatin44 49 59 1113.0AGTR1, HIF1A, EPO, EPOR, IL3, SETD2
32genistein44 28 59 2 11 2415.0JAK2, SETD2, IL3, HIF1A, STAT5A, AGTR1
33wortmannin4410.0JAK2, STAT5A, HIF1A, EPOR, IL3, IL11
34imatinib44 49 1112.0JAK2, IL3, EPO, STAT5A
35proline449.9VHL, JAK2, STAT5A, SETD2, HBA2, HIF1A
36ly294002449.9SETD2, IL3, EPO, HIF1A, STAT5A, JAK2
37cyclosporin a44 28 5911.9IL11, HIF1A, AGTR1, STAT5A, JAK2, EPO
38thymidine44 2410.8STAT5A, IL11, JAK2, IL3, HBB, HBA2
39oxygen44 2410.8VHL, EGLN1, STAT5A, EPO, EPAS1, JAK2
40iron44 2410.8HBB, HBA2, EPOR, EPAS1, EPO, HIF1A
41oligonucleotide449.7VHL, HBB, STAT5A, IL11, SETD2, EPOR
42doxorubicin44 49 1111.7IL11, EPOR, HIF1A, IL3, SETD2
43threonine449.7MPL, IL3, JAK2, SETD2, HBA2, HIF1A
44alanine449.7HBA2, JAK2, STAT5A, MPL, AGTR1, HIF1A
45nitric oxide44 11 2411.6STAT5A, HBB, IL11, ACE, EPOR, HIF1A
46cysteine449.6JAK2, IL11, IL3, HBB, STAT5A, MPL
47phosphatidylinositol449.5HIF1A, AGTR1, IL3, IL11, SETD2, EPO
48vegf449.5VHL, JAK2, SETD2, IL11, EPOR, EPAS1
49h2o2449.4JAK2, SETD2, IL3, HBB, AGTR1, HIF1A
50tyrosine449.1EPOR, EPAS1, EPO, CD177, AGTR1, HBA2

GO Terms for genes affiliated with Erythrocytosis

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16Gene Ontology
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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:03516210.5IL3, HIF1A
4positive regulation of DNA replicationGO:04574010.4IL3, EPO
5regulation of transcription from RNA polymerase II promoter in response to oxidative stressGO:04361910.4EPAS1, HIF1A
6positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.4EPO, JAK2, IL3
7hemoglobin biosynthetic processGO:04254110.4HIF1A, EPO
8positive regulation of peptidyl-tyrosine phosphorylationGO:05073110.4IL11, IL3, JAK2
9regulation of systemic arterial blood pressure by renin-angiotensinGO:00308110.3AGTR1, ACE
10oxygen homeostasisGO:03236410.3HIF1A, EGLN1
11positive regulation of inflammatory responseGO:05072910.3STAT5A, AGTR1, JAK2
12regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:06141810.3EPO, EPAS1, HIF1A, EGLN1, VHL
13cellular response to hypoxiaGO:07145610.2EPAS1, EPO, HIF1A, EGLN1, VHL
14regulation of vasodilationGO:04231210.2ACE, AGTR1
15mammary gland epithelium developmentGO:06118010.2JAK2, STAT5A
16oxygen transportGO:01567110.2HBA2, HBB
17signal transductionGO:0071659.6EPOR, EPAS1, EPO, JAK2, HIF1A

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

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  • Antibodies
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Sources for Erythrocytosis

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet