MCID: PRM012
MIFTS: 43

Primary Polycythemia malady

Genetic diseases, Immune diseases, Blood diseases, Rare diseases categories

Aliases & Classifications for Primary Polycythemia

About this section

Primary Polycythemia, Aliases & Descriptions:

Name: Primary Polycythemia 9
Familial Erythrocytosis 9 21 60
Primary Familial Polycythemia 21
Benign Familial Polycythemia 21
Congenital Erythrocytosis 21
 
Hereditary Erythrocytosis 21
Erythrocytosis, Familial 43
Familiar Polycythemia 9
Familial Polycythemia 21
Polycythemia Vera 60


Classifications:

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


External Ids:

Disease Ontology9 DOID:10780
ICD9CM27 289.6
NCIt38 C26955
ICD1025 D75.0

Summaries for Primary Polycythemia

About this section


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 polycythemia vera. 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 interferon alfa-2b and busulfan and the compounds ifn-alpha and erex have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and lung, and related mouse phenotypes are respiratory system and normal.

Related Diseases for Primary Polycythemia

About this section

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



Diseases related to primary polycythemia

Symptoms for Primary Polycythemia

About this section

Drugs & Therapeutics for Primary Polycythemia

About this section

Drug clinical trials:

Search ClinicalTrials for Primary Polycythemia

Search NIH Clinical Center for Primary Polycythemia

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Primary Polycythemia

About this section

Anatomical Context for Primary Polycythemia

About this section

MalaCards organs/tissues related to Primary Polycythemia:

31
Brain, Heart, Lung, Myeloid

Animal Models for Primary Polycythemia or affiliated genes

About this section

MGI Mouse Phenotypes related to Primary Polycythemia:

35
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

About this section

Articles related to Primary Polycythemia:

(show all 16)
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
N-acetyl-beta-glucosaminidase in lymphocytes of patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia. (996426)
1976
10
Activity and intracellular localization of lysosomal acid phosphatase in lymphocytes from patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia. (1025804)
1976
11
Daraprim in the treatment of primary polycythemia. (13716341)
1960
12
Blood basophils in primary polycythemia. (14400719)
1959
13
Radioactive phosphorus in the treatment of primary polycythemia (vera). (13359507)
1956
14
Evaluation of radiophosphorus therapy in primary polycythemia. (14850278)
1951
15
The therapeutic application of radioactive phosphorus with special reference to the treatment of primary polycythemia and chronic myeloid leukemia. (15407496)
1949
16
Radiophosphorus as the treatment of choice in primary polycythemia. (20998219)
1946

Variations for Primary Polycythemia

About this section

Expression for genes affiliated with Primary Polycythemia

About this section
Search GEO for disease gene expression data for Primary Polycythemia.

Pathways for genes affiliated with Primary Polycythemia

About this section

Pathways related to Primary Polycythemia according to GeneCards Suite gene sharing:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway58
9.3SOCS2, SOCS3
2
Show member pathways
IL-2 Signaling pathway36
9.3SOCS2, SOCS3
39.3SOCS2, SOCS3
4
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling58
Leptin signaling pathway36
9.3SOCS2, SOCS3
5
Show member pathways
9.3SOCS2, SOCS3
6
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
9.3SOCS2, SOCS3
79.3SOCS2, SOCS3
8
Show member pathways
9.3SOCS2, SOCS3
9
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes58
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway58
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 signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
9.1EPO, EPOR
14
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)36
9.1EPO, EPOR
159.1EPOR, EPO
169.1EPO, EPOR
17
Show member pathways
Paxillin-independent events mediated by a4b1 and a4b736
a4b1 and a4b7 Integrin signaling36
9.1EPOR, EPO
18
Show member pathways
EPO Receptor Signaling36
EPO signaling pathway36
8.5SOCS3, EPOR, EPO
19
Show member pathways
8.0EPO, EPOR, SOCS2, SOCS3
20
Show member pathways
Type III interferon signaling36
8.0EPO, EPOR, SOCS2, SOCS3
21
Show member pathways
8.0SOCS3, SOCS2, EPOR, EPO

Compounds for genes affiliated with Primary Polycythemia

About this section
Sources:
43Novoseek, 12DrugBank, 49PharmGKB
See all sources

Compounds related to Primary Polycythemia according to GeneCards Suite gene sharing:

(show all 17)
idCompoundScoreTop Affiliating Genes
1ifn-alpha439.5SOCS2, SOCS3
2erex439.4EPO, EPOR
3nesp439.4EPO, EPOR
4pp 100439.4EPO, EPOR
5pimonidazole439.4EPOR, EPO
6lenalidomide43 1210.4EPO, EPOR
7methylcellulose439.3EPO, EPOR
8ribavirin43 49 1211.2EPO, SOCS3
9inositol439.2EPO, EPOR
10ly294002439.1EPO, EPOR
11imatinib43 49 1211.1EPO, SOCS2
12phosphotyrosine439.0EPOR, SOCS3
135-aza-2deoxycytidine438.9SOCS3, EPO
14estrogen438.9SOCS3, SOCS2, EPOR
15gp 130438.8EPO, EPOR, SOCS3
16phosphatidylinositol438.3SOCS3, SOCS2, EPOR, EPO
17tyrosine438.2SOCS3, SOCS2, EPOR, EPO

GO Terms for genes affiliated with Primary Polycythemia

About this section

Biological processes related to Primary Polycythemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1JAK-STAT cascade involved in growth hormone signaling pathwayGO:00603979.3SOCS2, SOCS3
2protein ubiquitinationGO:00165679.3SOCS2, SOCS3
3JAK-STAT cascadeGO:00072599.2SOCS2, SOCS3
4agingGO:00075688.8EPO, SOCS2

Molecular functions related to Primary Polycythemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055158.0EPO, EPOR, SOCS2, SOCS3

Products for genes affiliated with Primary Polycythemia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Primary Polycythemia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet