MCID: ERY013
MIFTS: 50

Erythrocytosis malady

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

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

MalaCards based summary: Erythrocytosis is related to polycythemia vera and hemangioblastoma. 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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Sources:
46OMIM, 44Novoseek, 62UMLS
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Erythrocytosis, Aliases & Descriptions:

Name: Erythrocytosis 46 44 62


Classifications:

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


Related Diseases for Erythrocytosis

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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 115)
idRelated DiseaseScoreTop Affiliating Genes
1polycythemia vera30.4JAK2, EPO, EPOR
2hemangioblastoma30.3VHL, EPO, EPOR
3thrombocytosis30.2EPOR, EPO, JAK2
4pheochromocytoma30.1VHL, EPOR, EPAS1
5primary polycythemia30.0EPOR, EPO, JAK2, VHL, EGLN1
6alpha thalassemia29.9EPO, HBA2
7polycythemia29.9HBA2, EPOR, EPO, JAK2, VHL
8myelofibrosis29.8JAK2, EPO
9polycystic kidney disease29.6HBA2, EPO, VHL
10myeloma29.6EPOR, EPO, JAK2
11acute leukemia29.3JAK2, EPO, EPOR, HBA2
12leukemia29.2HBA2, EPOR, EPO, JAK2
13erythrocytosis, somatic10.4
14familial erythrocytosis, 110.3
15myoma10.3
16familial erythrocytosis 210.3
17hepatitis10.3
18tempi syndrome10.3
19familial erythrocytosis 310.3
20acoustic neuroma10.2VHL, EPOR
21renal tubular acidosis10.2
22thalassemia10.2
23von hippel-lindau disease10.2
24nephrocalcinosis10.2
25paraganglioma10.2
26adenoma10.2
27familial erythrocytosis 410.2
28vascular cancer10.2VHL, HBA2
29renal clear cell carcinoma10.2EPOR, VHL
30hepatocellular carcinoma10.1
31hypertension10.1
32hyperandrogenism10.1
33erythrocytosis due to bisphosphoglycerate mutase deficiency10.1
34kidney cancer10.1VHL, EPAS1
35hemangioma10.1VHL, HBA2
36stress polycythemia10.1
37hemochromatosis10.1
38hypoglycemia10.1
39cerebritis10.1
40glomerulosclerosis10.1
41leiomyoma10.1
42horseshoe kidney10.1
43hypoxia10.1
44autosomal recessive secondary polycythemia not associated with vhl gene10.1
45microcytic anemia10.0HBA2, EPO
46hemoglobinopathy10.0EPO, HBA2
47coronary artery anomaly10.0JAK2, 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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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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MalaCards organs/tissues related to Erythrocytosis:

32
Kidney, Bone marrow, Bone, Ovary, Pituitary, Whole blood, Cerebellum, Heart, Liver, Lung, Breast, T cells

Animal Models for Erythrocytosis or affiliated genes

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MGI Mouse Phenotypes related to Erythrocytosis:

36 (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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Articles related to Erythrocytosis:

(show top 50)    (show all 225)
idTitleAuthorsYear
1
Angiogenic activity in the sera of patients with post-kidney transplant erythrocytosis. (25193901)
2014
2
Perioperative normovolemic hemodilution in a case of leiomyomatous erythrocytosis. (25161358)
2014
3
Hereditary erythrocytosis, thrombocytosis and neutrophilia. (25189721)
2014
4
Prevalence, clinical profile, iron status, and subject-specific traits for excessive erythrocytosis in andean adults living permanently at 3,825 meters above sea level. (24874587)
2014
5
Methylation of SOCS3 in Myeloproliferative Neoplasms and Secondary Erythrocytosis/Thrombocythemia. (24385747)
2013
6
A 40-year-old man with recurrent fainting, hypotension, lower limb edema and oliguria with body weight gain and secondary erythrocytosis. (21948352)
2012
7
Von hippel-lindau disease and erythrocytosis. (22393103)
2012
8
Pure leydig cell tumour of the ovary in a post-menopausal patient with severe hyperandrogenism and erythrocytosis. (20518640)
2011
9
A nonsynonymous LNK polymorphism associated with idiopathic erythrocytosis. (21990094)
2011
10
Serum levels of granulocyte colony-stimulating factor in JAK2 V617F-positive vs. negative erythrocytosis. (21645282)
2011
11
Secondary erythrocytosis caused by hemoglobin Tak/(I'I^)0-thalassemia syndrome. (20798489)
2010
12
Concurrence of multiple myeloma and idiopathic erythrocytosis. (19999392)
2009
13
Blood p50 evaluation enhances diagnostic definition of isolated erythrocytosis. (18793248)
2009
14
Isolated erythrocytosis in V617F negative patients with JAK2 exon 12 mutations: report of a new mutation. (19229983)
2009
15
Triple-way therapeutic approach for paraganglioma-dependent erythrocytosis: drugs and surgery plus "multi-manner" apheresis. (18488156)
2008
16
Influence of angiotensin I-converting enzyme polymorphism on development of post-transplant erythrocytosis in renal graft recipients. (18339134)
2008
17
Reduced cerebral blood flow but elevated cerebral glucose metabolic rate in erythropoietin overexpressing transgenic mice with excessive erythrocytosis. (16804549)
2007
18
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. (17267906)
2007
19
Usefulness of JAK2V617F mutation in distinguishing idiopathic erythrocytosis from polycythemia vera. (16620973)
2007
20
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
21
Erythrocytosis in a patient on hemodialysis for thirteen years. (17285202)
2006
22
The JAK2 V617F mutation is absent in patients with erythrocytosis due to high oxygen affinity hemoglobin variants. (16987804)
2006
23
Secondary erythrocytosis associated with distal renal tubular acidosis. (15571188)
2004
24
Diagnostic value of serum erythropoietin level in patients with absolute erythrocytosis. (15477203)
2004
25
The rate of progression to polycythemia vera or essential thrombocythemia in patients with erythrocytosis or thrombocytosis. (13679323)
2003
26
A man with a deltoid swelling and paraneoplastic erythrocytosis: case report. (14981986)
2003
27
Neuroblastoma with expression of erythropoietin resulting in erythrocytosis. (12902921)
2003
28
Erythrocytosis in a child with a hepatic adenoma. (11344502)
2001
29
Long-term therapy for postrenal transplant erythrocytosis with ACE inhibitors: efficacy, safety and action mechanisms. (10809436)
2000
30
Secondary erythrocytosis in distal renal tubular acidosis: report of one case. (10927946)
2000
31
Erythrocytosis caused by an erythropoietin-producing hepatocellular carcinoma. (11088052)
2000
32
Losartan, an angiotensin II type 1 receptor antagonist, lowers hematocrit in posttransplant erythrocytosis. (9621296)
1998
33
Erythrocytosis in patients with hepatocarcinoma in alcoholic cirrhosis: ectopic production of erythropoietin?]. (9676132)
1998
34
Treatment of post-transplant erythrocytosis: comparison of lisinopril and theophylline]. (9549290)
1997
35
Postrenal transplant erythrocytosis: the roles of testosterone and erythropoietin. (9128802)
1997
36
Association of post-renal transplant erythrocytosis and microalbuminuria: response to angiotensin-converting enzyme inhibition. (7573190)
1995
37
Theophylline modulates erythrocytosis after renal transplantation. (7617113)
1995
38
Postpheochromocytoma erythropoietin-dependent erythrocytosis. A postischemic mechanism? (7978058)
1994
39
Erythropoiesis after withdrawal of enalapril in post-transplant erythrocytosis. (7853800)
1994
40
Erythrocytosis complicated by multiple paraganglioma. (8023652)
1994
41
Erythrocytosis in a 4 year-old child: diagnostic, prognostic, therapeutical problems]. (7987446)
1994
42
Erythrocytosis in patients with renal failure on hemodialysis: study of underlying mechanism by in vitro erythroid culture assay. (8330648)
1993
43
Post-transplant erythrocytosis: role of erythropoietin and male sex hormones. (1314974)
1992
44
Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin. (1954391)
1991
45
Erythrocytosis in hypophosphatemic rickets: irreversible complication due to nephrocalcinosis after vitamin D and phosphate therapy. (1665879)
1991
46
Secondary erythrocytosis due to a cerebellar hemangioblastoma: demonstration of erythropoietin mRNA in the tumor. (1859878)
1991
47
Erythrocytosis caused by an erythropoietin-producing breast adenocarcinoma. (2161586)
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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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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Pathways related to Erythrocytosis according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5EPOR, EPO
29.5EPO, EPOR
39.5EGLN1, EPO
49.4EGLN1, VHL
5
Show member pathways
VEGFR1 specific signals37
9.3VHL, EPAS1
68.9EGLN1, VHL, EPAS1
78.9EGLN1, VHL, EPAS1
88.9EPO, VHL, EGLN1
98.9EGLN1, VHL, EPO
10
Show member pathways
8.7JAK2, EPO, EPOR
118.7EPOR, EPO, JAK2
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, EPO, EPOR
14
Show member pathways
EPO Receptor Signaling37
EPO signaling pathway37
8.7JAK2, EPO, EPOR
15
Show member pathways
Paxillin-independent events mediated by a4b1 and a4b737
a4b1 and a4b7 Integrin signaling37
8.7EPOR, EPO, JAK2
16
Show member pathways
8.7EPOR, EPO, JAK2
17
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
8.7EPOR, EPO, JAK2
18
Show member pathways
Type III interferon signaling37
8.7EPOR, EPO, JAK2
198.4EGLN1, VHL, EPO, EPAS1
20
Show member pathways
8.4EGLN1, VHL, EPO, EPAS1
21
Show member pathways
8.4EGLN1, VHL, EPO, EPAS1

Compounds for genes affiliated with Erythrocytosis

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Compounds related to Erythrocytosis according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1erex449.9EPO, EPOR
2nesp449.9EPO, EPOR
323-diphosphoglycerate449.9HBA2, EPO
4pimonidazole449.9EPOR, EPO
5lenalidomide44 1110.9EPO, EPOR
6cocl2449.7VHL, EPO
7methylcellulose449.7EPO, EPOR
8cobalt chloride449.6EPO, VHL
9fumarate44 1110.6VHL, EPO
10deferoxamine44 1110.5VHL, EPO
11anagrelide44 1110.5JAK2, EPO
12cobalt44 2410.5EPO, VHL
13aminoguanidine44 28 1111.4JAK2, EPO
14alpha-ketoglutarate449.4VHL, EGLN1
15asparagine449.3EGLN1, EPOR
16succinate449.3EGLN1, VHL
17lactacystin449.2JAK2, EPOR
18hydroxyurea44 50 1111.1JAK2, EPO, HBA2
19pp 100449.1JAK2, EPO, EPOR
20gp 130449.1JAK2, EPO, EPOR
21butyrate449.0HBA2, EPO, JAK2
22ascorbic acid44 2410.0EPO, JAK2, EGLN1
235-aza-2deoxycytidine448.8EPO, JAK2, VHL
24actinomycin d448.8VHL, JAK2, EPOR
25cisplatin44 50 61 1111.8JAK2, EPO, EPOR
26rapamycin448.7EPO, JAK2, VHL
27thymidine44 249.7HBA2, EPOR, EPO, JAK2
28oligonucleotide448.6VHL, JAK2, EPOR, HBA2
29ly294002448.5EPOR, EPO, JAK2, VHL
30estrogen448.4EGLN1, VHL, JAK2, EPOR
31iron44 249.4HBA2, EPAS1, EPOR, EPO, VHL
32phosphatidylinositol448.4VHL, JAK2, EPO, EPOR
33glucose448.3VHL, JAK2, EPOR, EPAS1
34proline448.2HBA2, EPOR, JAK2, VHL, EGLN1
35tyrosine447.6HBA2, EPAS1, EPOR, EPO, JAK2, VHL
36vegf447.5EPAS1, EPOR, EPO, JAK2, VHL, EGLN1
37oxygen44 248.2EGLN1, HBA2, EPAS1, EPOR, EPO, JAK2

GO Terms for genes affiliated with Erythrocytosis

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet