MCID: PRM012
MIFTS: 43

Primary Polycythemia malady

Immune diseases, Blood diseases, Genetic diseases categories

Summaries for Primary Polycythemia

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Sources:
21Genetics Home Reference, 63Wikipedia, 32MalaCards
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Genetics Home Reference:21 Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. The excess red blood cells also increase the risk of developing abnormal blood clots that can block the flow of blood through arteries and veins. If these clots restrict blood flow to essential organs and tissues (particularly the heart, lungs, or brain), they can cause life-threatening complications such as a heart attack or stroke. However, many people with familial erythrocytosis experience only mild signs and symptoms or never have any problems related to their extra red blood cells.

MalaCards: Primary Polycythemia, also known as familial erythrocytosis, is related to polycythemia and polycythemia vera. An important gene associated with Primary Polycythemia is EPOR (erythropoietin receptor), and among its related pathways are TGF-Beta Pathway and Prolactin receptor signaling. The compounds erex and nesp have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and heart, and related mouse phenotypes are respiratory system and liver/biliary system.

Wikipedia:63 Polycythemia (or Polycythaemia, see spelling differences) vera (PV, PCV) (also known as erythremia,... more...

Aliases & Classifications for Primary Polycythemia

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8Disease Ontology, 21Genetics Home Reference, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 27ICD9CM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

primary polycythemia 8
familial erythrocytosis 8 21 60
primary familial polycythemia 21
benign familial polycythemia 21
congenital erythrocytosis 21
hereditary erythrocytosis 21
erythrocytosis, familial 44
familial polycythemia 21
familiar polycythemia 8


External Ids:

Disease Ontology8 DOID:10780
NCIt39 C26955
ICD9CM27 289.6
ICD1025 D75.0

Related Diseases for Primary Polycythemia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Primary Polycythemia:



Diseases related to primary polycythemia

Clinical Features for Primary Polycythemia

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Drugs & Therapeutics for Primary Polycythemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Primary Polycythemia

Search NIH Clinical Center for Primary Polycythemia

Search CenterWatch for Primary Polycythemia

Genetic Tests for Primary Polycythemia

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Anatomical Context for Primary Polycythemia

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32MalaCards
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MalaCards organs/tissues related to Primary Polycythemia:

32
Bone, Brain, Heart, Lung, Bone marrow, Myeloid, B cells

Animal Models for Primary Polycythemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Primary Polycythemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.3EPOR, SOCS3
2MP:00053707.9EPOR, EPO, SOCS3, SOCS2
3MP:00053767.7SOCS2, SOCS3, EPO, EPOR

Publications for Primary Polycythemia

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50PubMed
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Articles related to Primary Polycythemia:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
A phase II study of vorinostat (MK-0683) in patients with primary myelofibrosis and post-polycythemia vera myelofibrosis. (24425692)
2014
2
MicroRNA expression and JAK2 allele burden in bone marrow trephine biopsies of polycythemia vera, essential thrombocythemia and early primary myelofibrosis. (23343777)
2013
3
A classification system based on a new wrapper feature selection algorithm for the diagnosis of primary and secondary polycythemia. (24290929)
2013
4
Development of JAK2V617F-positive polycythemia vera after chemotherapy-induced remission of primary central nervous system diffuse large B cell non-Hodgkin's lymphoma: a case report and review of the literature. (23652352)
2013
5
Molecular characterization of a transformation from primary myelofibrosis into polycythemia vera: a case report. (23847190)
2013
6
Dealing with polycythemia in primary care. (23372909)
2013
7
Disruption of the ASXL1 gene is frequent in primary, post-essential thrombocytosis and post-polycythemia vera myelofibrosis, but not essential thrombocytosis or polycythemia vera: analysis of molecular genetics and clinical phenotypes. (21712540)
2011
8
The importance of cytogenetics in polycythemia vera, primary myelofibrosis and essential thrombocythemia. (23049351)
2011
9
Cytogenetics, JAK2 and MPL mutations in polycythemia vera, primary myelofibrosis and essential thrombocythemia. (23049357)
2011
10
Prognostic factors and models in polycythemia vera, essential thrombocythemia, and primary myelofibrosis. (22035744)
2011
11
Identification of JAK2 mutations in canine primary polycythemia. (21320566)
2011
12
Phase 2 study of CEP-701, an orally available JAK2 inhibitor, in patients with primary or post-polycythemia vera/essential thrombocythemia myelofibrosis. (20008298)
2010
13
Oxidative stress is increased in primary and post-polycythemia vera myelofibrosis. (20655352)
2010
14
Phase II study of sunitinib in patients with primary or post-polycythemia vera/essential thrombocythemia myelofibrosis. (20709665)
2010
15
CYT387, a selective JAK1/JAK2 inhibitor: in vitro assessment of kinase selectivity and preclinical studies using cell lines and primary cells from polycythemia vera patients. (19295546)
2009
16
The 2008 WHO diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis. (20425436)
2009
17
The diagnosis and management of polycythemia vera, essential thrombocythemia, and primary myelofibrosis in the JAK2 V617F era. (19521323)
2009
18
Emerging drugs for the therapy of primary and post essential thrombocythemia, post polycythemia vera myelofibrosis. (19552608)
2009
19
The presence of JAK2V617F in primary myelofibrosis or its allele burden in polycythemia vera predicts chemosensitivity to hydroxyurea. (18266209)
2008
20
The revised World Health Organization diagnostic criteria for polycythemia vera, essential thrombocytosis, and primary myelofibrosis: an alternative proposal. (18401028)
2008
21
GATA1 is overexpressed in patients with essential thrombocythemia and polycythemia vera but not in patients with primary myelofibrosis or chronic myelogenous leukemia. (18452096)
2008
22
A phase II study of 5-azacitidine for patients with primary and post-essential thrombocythemia/polycythemia vera myelofibrosis. (18385750)
2008
23
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
24
Overexpression of SOCS-2 and SOCS-3 genes reverses erythroid overgrowth and IGF-I hypersensitivity of primary polycythemia vera (PV) cells. (17325857)
2007
25
The JAK2 617V>F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia vera. (17389763)
2007
26
Primary myelofibrosis (PMF), post polycythemia vera myelofibrosis (post-PV MF), post essential thrombocythemia myelofibrosis (post-ET MF), blast phase PMF (PMF-BP): Consensus on terminology by the international working group for myelofibrosis research and treatment (IWG-MRT). (17210175)
2007
27
A phase II trial of tipifarnib in myelofibrosis: primary, post-polycythemia vera and post-essential thrombocythemia. (17581608)
2007
28
The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofibrosis--impact on disease phenotype. (17961178)
2007
29
Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel. (17488875)
2007
30
Erythropoietin hypersensitivity in primary familial and congenital polycythemia: role of tyrosines Y285 and Y344 in erythropoietin receptor cytoplasmic domain. (15878737)
2005
31
Polycythemia vera and other primary polycythemias. (15725900)
2005
32
Isolated trochlear nerve palsy as a presenting feature of primary polycythemia rubra vera. (15180853)
2004
33
Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2. (14636647)
2003
34
Concomitant primary polycythemia vera and follicle center cell non-Hodgkin lymphoma: a case report and review of the literature. (12533050)
2002
35
Primary pulmonary hypertension with severe systemic hypertension, Raynaud's phenomenon and relative polycythemia. (11579954)
2001
36
Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. (9649565)
1998
37
Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin. (7795221)
1995
38
In vitro sensitivity of human erythroid progenitors to hemopoietic growth factors: studies on primary and secondary polycythemia. (7806084)
1994
39
Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia. (8174675)
1994
40
Polycythemia: primary or secondary? The differential diagnostic value of stem cell cultures]. (8426948)
1993
41
Polycythemia vera, primary hyperparathyroidism, and dysplastic nevus syndrome: report of a case. (3984947)
1985
42
Diagnosis of canine primary polycythemia and management with hydroxyurea. (7061327)
1982
43
N-acetyl-beta-glucosaminidase in lymphocytes of patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia. (996426)
1976
44
Activity and intracellular localization of lysosomal acid phosphatase in lymphocytes from patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia. (1025804)
1976
45
Daraprim in the treatment of primary polycythemia. (13716341)
1960
46
Blood basophils in primary polycythemia. (14400719)
1959
47
Radioactive phosphorus in the treatment of primary polycythemia (vera). (13359507)
1956
48
Evaluation of radiophosphorus therapy in primary polycythemia. (14850278)
1951
49
The therapeutic application of radioactive phosphorus with special reference to the treatment of primary polycythemia and chronic myeloid leukemia. (15407496)
1949
50
Radiophosphorus as the treatment of choice in primary polycythemia. (20998219)
1946

Genetic Variations for Primary Polycythemia

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Expression for genes affiliated with Primary Polycythemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Primary Polycythemia

Search GEO for disease gene expression data for Primary Polycythemia.

Pathways for genes affiliated with Primary Polycythemia

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51QIAGEN, 53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG, 52R&D Systems, 4Cell Signaling Technology
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Pathways related to Primary Polycythemia according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.9SOCS3
2
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9.3SOCS2, SOCS3
39.3SOCS3, SOCS2
4
Development Prolactin receptor signaling
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9.3SOCS3, SOCS2
5
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9.3SOCS3, SOCS2
6
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9.3SOCS3, SOCS2
79.3SOCS3, SOCS2
8
Development Thrombopoetin signaling via JAK-STAT pathway
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9.3SOCS3, SOCS2
99.1EPOR, EPO
10
Hide members
9.1EPOR, EPO
119.1EPOR, EPO
129.1EPO, EPOR
13
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9.1EPOR, EPO
14
Development EPO-induced Jak-STAT pathway
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8.5SOCS3, EPO, EPOR
15
Hide members
8.0SOCS2, SOCS3, EPO, EPOR
168.0EPOR, EPO, SOCS3, SOCS2

Compounds for genes affiliated with Primary Polycythemia

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44Novoseek, 11DrugBank, 49PharmGKB
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Compounds related to Primary Polycythemia according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1erex449.4EPOR, EPO
2nesp449.4EPOR, EPO
3ifn-alpha449.4SOCS3, SOCS2
4pp 100449.4EPOR, EPO
5pimonidazole449.4EPOR, EPO
6lenalidomide44 1110.3EPOR, EPO
7methylcellulose449.3EPOR, EPO
8ribavirin44 49 1111.1EPO, SOCS3
9inositol449.0EPOR, EPO
105-aza-2deoxycytidine449.0EPO, SOCS3
11imatinib44 49 1110.8EPO, SOCS2
12estrogen448.8SOCS2, SOCS3, EPOR
13gp 130448.8SOCS3, EPO, EPOR
14phosphatidylinositol448.2SOCS2, SOCS3, EPO, EPOR
15tyrosine448.2SOCS2, SOCS3, EPO, EPOR

GO Terms for genes affiliated with Primary Polycythemia

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16Gene Ontology
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Biological processes related to Primary Polycythemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1JAK-STAT cascade involved in growth hormone signaling pathwayGO:0603979.2SOCS3, SOCS2
2agingGO:0075689.1EPO, SOCS2
3JAK-STAT cascadeGO:0072599.0SOCS3, SOCS2

Products for genes affiliated with Primary Polycythemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Polycythemia

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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