MCID: ACQ010
MIFTS: 39

Acquired Polycythemia

Categories: Immune diseases, Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Acquired Polycythemia

Summaries for Acquired Polycythemia

MalaCards based summary : Acquired Polycythemia, also known as secondary polycythemia, is related to polycythemia and autosomal recessive secondary polycythemia not associated with vhl gene. An important gene associated with Acquired Polycythemia is EPO (Erythropoietin), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Beta-Adrenergic Signaling. Affiliated tissues include endothelial and kidney, and related phenotypes are hypertension and acrocyanosis

Related Diseases for Acquired Polycythemia

Diseases in the Polycythemia family:

Primary Polycythemia Acquired Polycythemia
Polycythemia Due to Hypoxia Autosomal Dominant Secondary Polycythemia

Diseases related to Acquired Polycythemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 polycythemia 29.0 EPO EPOR JAK2
2 autosomal recessive secondary polycythemia not associated with vhl gene 12.1
3 autosomal dominant secondary polycythemia 12.1
4 erythropoietin polycythemia 11.1
5 erythrocytosis, familial, 2 10.2 EPO EPOR
6 neonatal anemia 10.2 EPO EPOR
7 retinitis pigmentosa and erythrocytic microcytosis 10.2 EPO JAK2
8 ewing's family of tumors 10.2 EPO EPOR
9 anemia of prematurity 10.2 EPO EPOR
10 splenomegaly 10.1 EPO JAK2
11 refractory anemia 10.1 EPO JAK2
12 hemangioblastoma 10.0 EPO EPOR
13 thrombocytosis 9.9 EPO JAK2
14 microcytic anemia 9.9 ACO1 EPO
15 immune system disease 9.8 EPO JAK2
16 primary polycythemia 9.7 EPO EPOR JAK2
17 acute erythroid leukemia 9.7 EPO EPOR JAK2
18 erythrocytosis, familial, 1 9.7 EPO EPOR JAK2
19 polycythemia vera 9.7 EPO EPOR JAK2
20 bone marrow cancer 9.7 EPO EPOR JAK2
21 essential thrombocythemia 9.7 EPO EPOR JAK2
22 restless legs syndrome 9.6 ACO1 EPO
23 deficiency anemia 9.6 EPO EPOR
24 myelodysplastic syndrome 9.5 EPO EPOR JAK2

Comorbidity relations with Acquired Polycythemia via Phenotypic Disease Network (PDN):


Bronchitis Chronic Pulmonary Heart Disease
Familial Atrial Fibrillation Heart Disease
Hypertension, Essential Postinflammatory Pulmonary Fibrosis
Primary Polycythemia Respiratory Failure

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



Diseases related to Acquired Polycythemia

Symptoms & Phenotypes for Acquired Polycythemia

Human phenotypes related to Acquired Polycythemia:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 hallmark (90%) HP:0000822
2 acrocyanosis 32 hallmark (90%) HP:0001063
3 clubbing 32 frequent (33%) HP:0001217
4 lethargy 32 hallmark (90%) HP:0001254
5 stroke 32 hallmark (90%) HP:0001297
6 obesity 32 hallmark (90%) HP:0001513
7 abnormal leukocyte morphology 32 hallmark (90%) HP:0001881
8 headache 32 hallmark (90%) HP:0002315
9 hypotension 32 hallmark (90%) HP:0002615
10 arterial thrombosis 32 hallmark (90%) HP:0004420
11 venous thrombosis 32 hallmark (90%) HP:0004936
12 gastrointestinal infarctions 32 hallmark (90%) HP:0005244
13 venous insufficiency 32 hallmark (90%) HP:0005293
14 erythema 32 hallmark (90%) HP:0010783
15 visceral angiomatosis 32 hallmark (90%) HP:0100761

MGI Mouse Phenotypes related to Acquired Polycythemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 JAK2 SLC2A9 ACO1 EGLN2 EPO EPOR
2 embryo MP:0005380 9.62 EPOR JAK2 EGLN2 EPO
3 immune system MP:0005387 9.55 JAK2 SLC2A9 EGLN2 EPO EPOR
4 liver/biliary system MP:0005370 9.35 JAK2 SLC2A9 EGLN2 EPO EPOR
5 normal MP:0002873 9.02 JAK2 SLC2A9 ACO1 EPO EPOR

Drugs & Therapeutics for Acquired Polycythemia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 CO-Rebreathing in Comparison to Isotopic Red Cell Volume Determination in the Diagnosis of Primitive and Secondary Polycythemia Not yet recruiting NCT03008642 Not Applicable

Search NIH Clinical Center for Acquired Polycythemia

Genetic Tests for Acquired Polycythemia

Anatomical Context for Acquired Polycythemia

MalaCards organs/tissues related to Acquired Polycythemia:

41
Endothelial, Kidney

Publications for Acquired Polycythemia

Articles related to Acquired Polycythemia:

(show all 26)
# Title Authors Year
1
Severe Secondary Polycythemia in a Female-to-Male Transgender Patient While Using Lifelong Hormonal Therapy: A Patient's Perspective. ( 29396819 )
2018
2
Ischemic Stroke Caused by Secondary Polycythemia and Incidentally-Found Renal Cell Carcinoma: A Case Report. ( 29861497 )
2018
3
Association of subcutaneous testosterone pellet therapy with developing secondary polycythemia. ( 29205178 )
2017
4
A Comparison of Secondary Polycythemia in Hypogonadal MenA Treated with Clomiphene Citrate versus Testosterone Replacement: A Multi-institutional Study. ( 27984109 )
2016
5
[Inherited primitive and secondary polycythemia]. ( 26827274 )
2016
6
Cerebral venous thrombosis and secondary polycythemia in a case of nephrotic syndrome. ( 26997397 )
2016
7
Leukemia kidney infiltration can cause secondary polycythemia by activating hypoxia-inducible factor (HIF) pathway. ( 23677251 )
2013
8
Pulmonary embolism in chronic hypoxemic patients with and without secondary polycythemia--analysis of risk factors in prospective clinical study. ( 23892842 )
2013
9
Left main coronary thrombotic occlusion due to secondary polycythemia in a normal sinus of valsalva. ( 23913610 )
2013
10
A classification system based on a new wrapper feature selection algorithm for the diagnosis of primary and secondary polycythemia. ( 24290929 )
2013
11
Coexistence of a myeloproliferative disorder and secondary polycythemia in the same patient. ( 22473461 )
2012
12
Sporadic CNS hemangioblastomatosis, response to sunitinib and secondary polycythemia. ( 22076450 )
2012
13
Images in clinical medicine. Nonobstructive hydronephrosis with secondary polycythemia. ( 21732830 )
2011
14
Spontaneous aortic thrombosis causing left main coronary occlusion in a man with secondary polycythemia. ( 21851910 )
2011
15
Hookah (narghile) smoking: a new emerging cause of secondary polycythemia. ( 21761441 )
2011
16
Phlebotomy for rapid weaning and extubation in COPD patient with secondary polycythemia and respiratory failure. ( 20539767 )
2010
17
Congenital and acquired polycythemias. ( 19633771 )
2008
18
Novel somatic mutations of the VHL gene in an erythropoietin-producing renal carcinoma associated with secondary polycythemia and elevated circulating endothelial progenitor cells. ( 17696210 )
2008
19
Secondary polycythemia caused by ureteropelvic junction obstruction successfully treated by laparoscopic nephrectomy. ( 16750248 )
2006
20
Homozygous hemoglobin Tak causes symptomatic secondary polycythemia in a Thai boy. ( 12621249 )
2003
21
Giant uterine fibromyoma producing secondary polycythemia. ( 9205464 )
1994
22
In vitro sensitivity of human erythroid progenitors to hemopoietic growth factors: studies on primary and secondary polycythemia. ( 7806084 )
1994
23
[Secondary polycythemias: the role of erythropoietin]. ( 8272712 )
1993
24
Immunohistochemical study of erythropoietin in cerebellar hemangioblastomas associated with secondary polycythemia. ( 1994278 )
1991
25
Nephroblastoma with secondary polycythemia in a New Zealand white rabbit. ( 6285079 )
1982
26
Cigarette smoking and secondary polycythemia in hypoxic cor pulmonale. ( 7081807 )
1982

Variations for Acquired Polycythemia

Expression for Acquired Polycythemia

Search GEO for disease gene expression data for Acquired Polycythemia.

Pathways for Acquired Polycythemia

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 EPO EPOR JAK2
2
Show member pathways
12.35 EPO EPOR JAK2
3
Show member pathways
12.2 EPO EPOR JAK2
4 12.18 EGLN2 EPO EPOR JAK2
5
Show member pathways
11.7 EPO EPOR JAK2
6 11.51 EGLN2 EPO
7 11.48 EPO EPOR
8 11.38 EPO EPOR JAK2
9 11.19 EGLN2 EPO
10
Show member pathways
11.12 EPO EPOR JAK2
11 10.94 EGLN2 EPO
12 10.8 EPO EPOR
13
Show member pathways
10.44 EPO EPOR JAK2

GO Terms for Acquired Polycythemia

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.26 EGLN2 EPO
2 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.16 EPO JAK2
3 erythrocyte differentiation GO:0030218 8.96 EPO JAK2
4 erythropoietin-mediated signaling pathway GO:0038162 8.62 EPO EPOR

Sources for Acquired Polycythemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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