MCID: PRM012
MIFTS: 49

Primary Polycythemia malady

Genetic diseases (common), Immune diseases, Blood diseases categories
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Summaries for Primary Polycythemia

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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 based summary: Primary Polycythemia, also known as familial erythrocytosis, is related to polycythemia and erythrocytosis. An important gene associated with Primary Polycythemia is EPOR (erythropoietin receptor), and among its related pathways are Jak/Stat Pathway and IL2-mediated signaling events. The drugs busulfan and hydroxyurea and the compounds ifn-alpha and erex have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and heart, and related mouse phenotypes are respiratory system and normal.

Wikipedia:65 Polycythemia (or Polycythaemia, see spelling differences) vera (PV, PCV) (also known as erythremia,... more...

Aliases & Classifications for Primary Polycythemia

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Primary Polycythemia, Aliases & Descriptions:

Name: Primary Polycythemia 8 62
Familial Erythrocytosis 8 21 62
Primary Familial Polycythemia 21 62
Benign Familial Polycythemia 21 62
Congenital Erythrocytosis 21 62
 
Hereditary Erythrocytosis 21 62
Erythrocytosis, Familial 44
Familial Polycythemia 21
Familiar Polycythemia 8


Classifications:

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


External Ids:

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

Related Diseases for Primary Polycythemia

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Graphical network of the top 20 diseases related to Primary Polycythemia:



Diseases related to primary polycythemia

Symptoms for Primary Polycythemia

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Drugs & Therapeutics for Primary Polycythemia

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Drug clinical trials:

Search ClinicalTrials for Primary Polycythemia

Search NIH Clinical Center for Primary Polycythemia

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Primary Polycythemia

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Anatomical Context for Primary Polycythemia

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MalaCards organs/tissues related to Primary Polycythemia:

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

Animal Models for Primary Polycythemia or affiliated genes

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MGI Mouse Phenotypes related to Primary Polycythemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.8SOCS3, SOCS2, EPOR
2MP:00028738.5EPO, EPOR, SOCS3
3MP:00107718.4EPO, SOCS2, SOCS3
4MP:00053808.2SOCS3, EPOR, EPO
5MP:00053708.1EPO, EPOR, SOCS2, SOCS3
6MP:00053978.1SOCS3, SOCS2, EPOR, EPO
7MP:00053768.1EPO, EPOR, SOCS2, SOCS3

Publications for Primary Polycythemia

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Articles related to Primary Polycythemia:

(show all 17)
idTitleAuthorsYear
1
Identification of JAK2 mutations in canine primary polycythemia. (21320566)
2011
2
Overexpression of SOCS-2 and SOCS-3 genes reverses erythroid overgrowth and IGF-I hypersensitivity of primary polycythemia vera (PV) cells. (17325857)
2007
3
Polycythemia vera and other primary polycythemias. (15725900)
2005
4
Isolated trochlear nerve palsy as a presenting feature of primary polycythemia rubra vera. (15180853)
2004
5
Concomitant primary polycythemia vera and follicle center cell non-Hodgkin lymphoma: a case report and review of the literature. (12533050)
2002
6
Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. (9649565)
1998
7
The erythropoietin receptor gene is not linked with the polycythemia phenotype in a family with autosomal dominant primary polycythemia. (9394420)
1997
8
Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia. (8174675)
1994
9
Diagnosis of canine primary polycythemia and management with hydroxyurea. (7061327)
1982
10
N-acetyl-beta-glucosaminidase in lymphocytes of patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia. (996426)
1976
11
Activity and intracellular localization of lysosomal acid phosphatase in lymphocytes from patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia. (1025804)
1976
12
Daraprim in the treatment of primary polycythemia. (13716341)
1960
13
Blood basophils in primary polycythemia. (14400719)
1959
14
Radioactive phosphorus in the treatment of primary polycythemia (vera). (13359507)
1956
15
Evaluation of radiophosphorus therapy in primary polycythemia. (14850278)
1951
16
The therapeutic application of radioactive phosphorus with special reference to the treatment of primary polycythemia and chronic myeloid leukemia. (15407496)
1949
17
Radiophosphorus as the treatment of choice in primary polycythemia. (20998219)
1946

Variations for Primary Polycythemia

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Expression for genes affiliated with Primary Polycythemia

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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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Pathways related to Primary Polycythemia according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway60
9.3SOCS2, SOCS3
2
Show member pathways
IL-2 Signaling pathway37
9.3SOCS2, SOCS3
39.3SOCS2, SOCS3
4
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
9.3SOCS2, SOCS3
5
Show member pathways
9.3SOCS2, SOCS3
6
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
9.3SOCS2, SOCS3
79.3SOCS2, SOCS3
8
Show member pathways
9.3SOCS2, SOCS3
9
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
9.3SOCS3, SOCS2
10
Show member pathways
9.3SOCS3, SOCS2
119.1EPO, EPOR
12
Show member pathways
9.1EPOR, EPO
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
9.1EPO, EPOR
14
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
9.1EPO, EPOR
159.1EPOR, EPO
169.1EPO, EPOR
17
Show member pathways
Paxillin-independent events mediated by a4b1 and a4b737
a4b1 and a4b7 Integrin signaling37
9.1EPOR, EPO
18
Show member pathways
EPO Receptor Signaling37
EPO signaling pathway37
8.5SOCS3, EPOR, EPO
19
Show member pathways
8.0EPO, EPOR, SOCS2, SOCS3
20
Show member pathways
Type III interferon signaling37
8.0EPO, EPOR, SOCS2, SOCS3
21
Show member pathways
8.0SOCS3, SOCS2, EPOR, EPO

Compounds for genes affiliated with Primary Polycythemia

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Sources:
44Novoseek, 11DrugBank, 50PharmGKB
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Compounds related to Primary Polycythemia according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1ifn-alpha449.5SOCS2, SOCS3
2erex449.4EPO, EPOR
3nesp449.4EPO, EPOR
4pp 100449.4EPO, EPOR
5pimonidazole449.4EPOR, EPO
6lenalidomide44 1110.4EPO, EPOR
7methylcellulose449.3EPO, EPOR
8ribavirin44 50 1111.2EPO, SOCS3
9inositol449.2EPO, EPOR
10ly294002449.1EPO, EPOR
11imatinib44 50 1111.1EPO, SOCS2
12phosphotyrosine449.0EPOR, SOCS3
135-aza-2deoxycytidine448.9SOCS3, EPO
14estrogen448.9SOCS3, SOCS2, EPOR
15gp 130448.8EPO, EPOR, SOCS3
16phosphatidylinositol448.3SOCS3, SOCS2, EPOR, EPO
17tyrosine448.2SOCS3, SOCS2, EPOR, EPO

GO Terms for genes affiliated with Primary Polycythemia

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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:0603979.3SOCS2, SOCS3
2protein ubiquitinationGO:0165679.3SOCS2, SOCS3
3JAK-STAT cascadeGO:0072599.2SOCS2, SOCS3
4agingGO:0075688.8EPO, SOCS2

Molecular functions related to Primary Polycythemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055158.0EPO, EPOR, SOCS2, SOCS3

Products for genes affiliated with Primary Polycythemia

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