MCID: ERY013
MIFTS: 50

Erythrocytosis malady

Genetic diseases, Rare diseases, Blood diseases categories
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Summaries for Erythrocytosis

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65Wikipedia, 33MalaCards
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Wikipedia:65 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 polycythemia. An important gene associated with Erythrocytosis is HBA2 (hemoglobin, alpha 2), and among its related pathways are Hematopoietic cell lineage and G protein signaling K RAS regulation pathway. The compounds erex and nesp have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone marrow and bone, and related mouse phenotypes are muscle and liver/biliary system.

Aliases & Classifications for Erythrocytosis

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47OMIM, 45Novoseek, 62UMLS
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Classifications:

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


Aliases & Descriptions:

erythrocytosis 47 45 62


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 112)
idRelated DiseaseScoreTop Affiliating Genes
1polycythemia vera30.6JAK2, EPO, EPOR
2polycythemia30.5HBA2, EPOR, EPO, JAK2, VHL
3primary polycythemia30.5EPOR, EPO, JAK2, VHL, EGLN1
4hemangioblastoma30.4VHL, EPO, EPOR
5thrombocytosis30.2EPOR, EPO, JAK2
6pheochromocytoma30.1VHL, EPOR, EPAS1
7alpha thalassemia29.8EPO, HBA2
8myelofibrosis29.8JAK2, EPO
9myeloproliferative disorder29.8EPOR, EPO, JAK2
10polycystic kidney disease29.8HBA2, EPO, VHL
11myeloma29.8EPOR, EPO, JAK2
12acute leukemia29.7JAK2, EPO, EPOR, HBA2
13leukemia29.7HBA2, EPOR, EPO, JAK2
14erythrocytosis, somatic10.4
15familial erythrocytosis, 110.3
16myoma10.3
17familial erythrocytosis 210.3
18familial erythrocytosis 410.3
19hepatitis10.2
20familial erythrocytosis 310.2
21nephrocalcinosis10.2
22paraganglioma10.2
23renal tubular acidosis10.2
24von hippel-lindau disease10.2
25thalassemia10.2
26tempi syndrome10.2
27hyperandrogenism10.1
28adenoma10.1
29hepatocellular carcinoma10.1
30hypertension10.1
31erythrocytosis due to bisphosphoglycerate mutase deficiency10.1
32acoustic neuroma10.1VHL, EPOR
33hyperuricemia10.0
34hemochromatosis10.0
35hypoglycemia10.0
36cerebritis10.0
37glomerulosclerosis10.0
38horseshoe kidney10.0
39hypoxia10.0
40autosomal recessive secondary polycythemia not associated with vhl gene10.0
41vascular cancer10.0VHL, HBA2
42renal clear cell carcinoma10.0EPOR, VHL
43kidney cancer10.0VHL, EPAS1
44hemangioma10.0VHL, HBA2
45microcytic anemia10.0HBA2, EPO
46hemoglobinopathy10.0EPO, HBA2
47coronary artery disease10.0JAK2, EPOR
48beta thalassemia10.0HBA2, EPO
49iron metabolism disease10.0EPO, HBA2
50congestive heart failure10.0EPOR, EPO

Graphical network of the top 20 diseases related to Erythrocytosis:



Diseases related to erythrocytosis

Symptoms for Erythrocytosis

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Drugs & Therapeutics for Erythrocytosis

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Erythrocytosis

Search NIH Clinical Center for Erythrocytosis

Genetic Tests for Erythrocytosis

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Anatomical Context for Erythrocytosis

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33MalaCards
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MalaCards organs/tissues related to Erythrocytosis:

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

Animal Models for Erythrocytosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Erythrocytosis:

37 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2HBA2, EPAS1, VHL, EGLN1
2MP:00053708.1EPAS1, EPOR, EPO, VHL, EGLN1
3MP:00028738.1VHL, JAK2, EPO, EPOR
4MP:00053857.9EPAS1, EPOR, EPO, VHL, EGLN1
5MP:00107717.7HBA2, EPO, JAK2, VHL, EGLN1
6MP:00053877.5EGLN1, VHL, JAK2, EPOR, EPAS1
7MP:00053847.4HBA2, EPOR, EPO, JAK2, VHL, EGLN1
8MP:00053787.4HBA2, EPAS1, EPOR, JAK2, VHL, EGLN1
9MP:00053807.4EPAS1, EPOR, EPO, JAK2, VHL, EGLN1
10MP:00053977.0EGLN1, HBA2, EPAS1, EPOR, EPO, JAK2
11MP:00053767.0HBA2, EPAS1, EPOR, EPO, JAK2, VHL
12MP:00107686.9HBA2, EPAS1, EPOR, EPO, JAK2, VHL

Publications for Erythrocytosis

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52PubMed
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Articles related to Erythrocytosis:

(show top 50)    (show all 203)
idTitleAuthorsYear
1
A 40-year-old man with recurrent fainting, hypotension, lower limb edema and oliguria with body weight gain and secondary erythrocytosis. (21948352)
2012
2
Von hippel-lindau disease and erythrocytosis. (22393103)
2012
3
Pure leydig cell tumour of the ovary in a post-menopausal patient with severe hyperandrogenism and erythrocytosis. (20518640)
2011
4
A nonsynonymous LNK polymorphism associated with idiopathic erythrocytosis. (21990094)
2011
5
Serum levels of granulocyte colony-stimulating factor in JAK2 V617F-positive vs. negative erythrocytosis. (21645282)
2011
6
Secondary erythrocytosis caused by hemoglobin Tak/(I'I^)0-thalassemia syndrome. (20798489)
2010
7
Efficacy and safety of losartan in treatment of hyperuricemia and posttransplantation erythrocytosis: results of a prospective, open, randomized, case-control study. (19917377)
2009
8
Concurrence of multiple myeloma and idiopathic erythrocytosis. (19999392)
2009
9
Blood p50 evaluation enhances diagnostic definition of isolated erythrocytosis. (18793248)
2009
10
Isolated erythrocytosis in V617F negative patients with JAK2 exon 12 mutations: report of a new mutation. (19229983)
2009
11
Triple-way therapeutic approach for paraganglioma-dependent erythrocytosis: drugs and surgery plus "multi-manner" apheresis. (18488156)
2008
12
Influence of angiotensin I-converting enzyme polymorphism on development of post-transplant erythrocytosis in renal graft recipients. (18339134)
2008
13
Reduced cerebral blood flow but elevated cerebral glucose metabolic rate in erythropoietin overexpressing transgenic mice with excessive erythrocytosis. (16804549)
2007
14
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. (17267906)
2007
15
Usefulness of JAK2V617F mutation in distinguishing idiopathic erythrocytosis from polycythemia vera. (16620973)
2007
16
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
17
Erythrocytosis in a patient on hemodialysis for thirteen years. (17285202)
2006
18
The JAK2 V617F mutation is absent in patients with erythrocytosis due to high oxygen affinity hemoglobin variants. (16987804)
2006
19
Secondary erythrocytosis associated with distal renal tubular acidosis. (15571188)
2004
20
Diagnostic value of serum erythropoietin level in patients with absolute erythrocytosis. (15477203)
2004
21
The rate of progression to polycythemia vera or essential thrombocythemia in patients with erythrocytosis or thrombocytosis. (13679323)
2003
22
A man with a deltoid swelling and paraneoplastic erythrocytosis: case report. (14981986)
2003
23
Neuroblastoma with expression of erythropoietin resulting in erythrocytosis. (12902921)
2003
24
Erythrocytosis in a child with a hepatic adenoma. (11344502)
2001
25
Long-term therapy for postrenal transplant erythrocytosis with ACE inhibitors: efficacy, safety and action mechanisms. (10809436)
2000
26
Secondary erythrocytosis in distal renal tubular acidosis: report of one case. (10927946)
2000
27
Erythrocytosis caused by an erythropoietin-producing hepatocellular carcinoma. (11088052)
2000
28
Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. (10498627)
1999
29
Losartan, an angiotensin II type 1 receptor antagonist, lowers hematocrit in posttransplant erythrocytosis. (9621296)
1998
30
Erythrocytosis in patients with hepatocarcinoma in alcoholic cirrhosis: ectopic production of erythropoietin?]. (9676132)
1998
31
Treatment of post-transplant erythrocytosis: comparison of lisinopril and theophylline]. (9549290)
1997
32
Postrenal transplant erythrocytosis: the roles of testosterone and erythropoietin. (9128802)
1997
33
Factors inducing posttransplant erythrocytosis. (9300939)
1997
34
Ketanserin: a new perspective in posttransplant erythrocytosis? (8652901)
1996
35
Association of post-renal transplant erythrocytosis and microalbuminuria: response to angiotensin-converting enzyme inhibition. (7573190)
1995
36
Theophylline modulates erythrocytosis after renal transplantation. (7617113)
1995
37
Postpheochromocytoma erythropoietin-dependent erythrocytosis. A postischemic mechanism? (7978058)
1994
38
Erythropoiesis after withdrawal of enalapril in post-transplant erythrocytosis. (7853800)
1994
39
Erythrocytosis complicated by multiple paraganglioma. (8023652)
1994
40
Erythrocytosis in a 4 year-old child: diagnostic, prognostic, therapeutical problems]. (7987446)
1994
41
Erythrocytosis in patients with renal failure on hemodialysis: study of underlying mechanism by in vitro erythroid culture assay. (8330648)
1993
42
Post-transplant erythrocytosis: role of erythropoietin and male sex hormones. (1314974)
1992
43
Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin. (1954391)
1991
44
Erythrocytosis in hypophosphatemic rickets: irreversible complication due to nephrocalcinosis after vitamin D and phosphate therapy. (1665879)
1991
45
Secondary erythrocytosis due to a cerebellar hemangioblastoma: demonstration of erythropoietin mRNA in the tumor. (1859878)
1991
46
Erythrocytosis caused by an erythropoietin-producing breast adenocarcinoma. (2161586)
1990
47
Effects of theophylline on erythropoietin production in normal subjects and in patients with erythrocytosis after renal transplantation. (2163024)
1990
48
Hematological study on a case with cerebellar hemangioblastoma associated with erythrocytosis, with special reference to a erythropoiesis-stimulating activity present in the fluid of the cyst of tumor. (5461951)
1970
49
MYOMA-ERYTHROCYTOSIS SYNDROME, PRESENTING WITH ACUTE HEPATIC VEIN THROMBOSIS. (14269124)
1965
50
ATYPICAL MEIGS' SYNDROME WITH HYPERTENSION AND ERYTHROCYTOSIS. (14115862)
1964

Variations for Erythrocytosis

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Expression for genes affiliated with Erythrocytosis

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2BioGPS, 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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50PathCards, 30KEGG, 60Thomson Reuters, 38NCBI BioSystems Database, 5Cell Signaling Technology, 53QIAGEN, 55Reactome
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Pathways related to Erythrocytosis according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5EPO, EPOR
29.5EPOR, EPO
39.5EGLN1, EPO
49.4EGLN1, VHL
5
Show member pathways
VEGFR1 specific signals38
9.3VHL, EPAS1
68.9VHL, EGLN1, EPAS1
78.9VHL, EGLN1, EPAS1
88.9EPO, VHL, EGLN1
98.9VHL, EPO, EGLN1
10
Show member pathways
8.7JAK2, EPOR, EPO
118.7EPO, JAK2, EPOR
12
Show member pathways
8.7JAK2, EPO, EPOR
13
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
8.7JAK2, EPOR, EPO
14
Show member pathways
EPO Receptor Signaling38
EPO signaling pathway38
8.7JAK2, EPO, EPOR
15
Show member pathways
Paxillin-independent events mediated by a4b1 and a4b738
a4b1 and a4b7 Integrin signaling38
8.7JAK2, EPO, EPOR
16
Show member pathways
8.7JAK2, EPO, EPOR
17
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)38
8.7JAK2, EPO, EPOR
18
Show member pathways
Type III interferon signaling38
8.7JAK2, EPOR, EPO
198.4EPO, VHL, EGLN1, EPAS1
20
Show member pathways
8.4VHL, EGLN1, EPAS1, EPO
21
Show member pathways
8.4EGLN1, EPAS1, EPO, VHL

Compounds for genes affiliated with Erythrocytosis

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45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 51PharmGKB, 61Tocris Bioscience
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Compounds related to Erythrocytosis according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1erex459.9EPO, EPOR
2nesp459.9EPOR, EPO
323-diphosphoglycerate459.9EPO, HBA2
4pimonidazole459.9EPO, EPOR
5lenalidomide45 1110.9EPO, EPOR
6cocl2459.7EPO, VHL
7methylcellulose459.7EPO, EPOR
8cobalt chloride459.6VHL, EPO
9fumarate45 1110.6VHL, EPO
10deferoxamine45 1110.5VHL, EPO
11anagrelide45 1110.5EPO, JAK2
12cobalt45 2410.5VHL, EPO
13aminoguanidine45 29 1111.4EPO, JAK2
14alpha-ketoglutarate459.4EGLN1, VHL
15asparagine459.3EGLN1, EPOR
16succinate459.3EGLN1, VHL
17lactacystin459.2JAK2, EPOR
18hydroxyurea45 51 1111.1JAK2, HBA2, EPO
19pp 100459.1EPO, JAK2, EPOR
20gp 130459.1JAK2, EPO, EPOR
21butyrate459.0EPO, HBA2, JAK2
22ascorbic acid45 2410.0EPO, JAK2, EGLN1
235-aza-2deoxycytidine458.8JAK2, EPO, VHL
24actinomycin d458.8VHL, EPOR, JAK2
25cisplatin45 51 61 1111.8EPOR, EPO, JAK2
26rapamycin458.7JAK2, VHL, EPO
27thymidine45 249.7JAK2, EPO, EPOR, HBA2
28oligonucleotide458.6HBA2, VHL, JAK2, EPOR
29ly294002458.5JAK2, EPOR, EPO, VHL
30estrogen458.4EGLN1, JAK2, EPOR, VHL
31iron45 249.4VHL, HBA2, EPO, EPOR, EPAS1
32phosphatidylinositol458.4JAK2, EPOR, EPO, VHL
33glucose458.3EPOR, JAK2, VHL, EPAS1
34proline458.2EPOR, JAK2, VHL, EGLN1, HBA2
35tyrosine457.6JAK2, VHL, EPO, HBA2, EPAS1, EPOR
36vegf457.5EPO, EPOR, EPAS1, JAK2, EGLN1, VHL
37oxygen45 248.2EGLN1, EPOR, EPO, JAK2, VHL, 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
1cytosolGO:0058297.7EGLN1, VHL, JAK2, EPAS1, HBA2

Biological processes related to Erythrocytosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.2JAK2, EPO
2response to lipopolysaccharideGO:0324969.1JAK2, EPO
3positive regulation of cell differentiationGO:0455978.9VHL, JAK2
4erythrocyte differentiationGO:0302188.8JAK2, EPAS1
5regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:0614188.5EGLN1, VHL, EPO, EPAS1
6cellular response to hypoxiaGO:0714568.5EPAS1, EPO, VHL, EGLN1
7signal transductionGO:0071658.2EPAS1, EPOR, EPO, JAK2

Molecular functions related to Erythrocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.7EGLN1, VHL, JAK2, EPO, EPOR, EPAS1

Products for genes affiliated with Erythrocytosis

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  • Antibodies
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Sources for Erythrocytosis

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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