MCID: ACQ010
MIFTS: 46

Acquired Polycythemia

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

Aliases & Classifications for Acquired Polycythemia

MalaCards integrated aliases for Acquired Polycythemia:

Name: Acquired Polycythemia 12 15
Secondary Polycythemia 12 58 70
Secondary Erythrocytosis 58
Polycythemia, Secondary 12
Polycythemia Secondary 54

Characteristics:

Orphanet epidemiological data:

58
secondary polycythemia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2834
ICD9CM 34 289.0
NCIt 50 C27178
SNOMED-CT 67 154835002
ICD10 32 D75.1
ICD10 via Orphanet 33 D75.1
UMLS via Orphanet 71 C1318533
Orphanet 58 ORPHA98428
UMLS 70 C1318533

Summaries for Acquired Polycythemia

MalaCards based summary : Acquired Polycythemia, also known as secondary polycythemia, is related to autosomal dominant secondary polycythemia and erythrocytosis, familial, 2. An important gene associated with Acquired Polycythemia is EPO (Erythropoietin), and among its related pathways/superpathways are Beta-Adrenergic Signaling and ErbB signaling pathway. Affiliated tissues include bone marrow, bone and heart, and related phenotypes are hypotension and hypertension

Related Diseases for Acquired Polycythemia

Diseases in the Polycythemia family:

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

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

(show top 50) (show all 167)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant secondary polycythemia 31.8 EPO EPAS1 EGLN1
2 erythrocytosis, familial, 2 31.1 HAMP EPOR EPO EPAS1 EGLN1
3 hemangioblastoma 29.8 EPOR EPO EPAS1
4 iron metabolism disease 29.7 HAMP EPO
5 pheochromocytoma 29.7 EPOR EPO EPAS1 EGLN1
6 thrombocytopenia 29.4 MPL JAK2 EPOR EPO
7 neutropenia 29.4 MPL EPO CD177
8 thrombocytosis 29.3 MPL JAK2 EPO CD177
9 myelofibrosis 29.0 MPL JAK2 EPOR EPO CD177
10 leukemia, acute lymphoblastic 28.9 MPL JAK2 EPOR ABL1
11 primary polycythemia 28.8 JAK2 EPOR EPO EPAS1 EGLN1 BPGM
12 polycythemia vera 28.7 MPL JAK2 HAMP EPOR EPO CD177
13 essential thrombocythemia 28.7 MPL JAK2 EPOR EPO CD177 ABL1
14 polycythemia 28.4 MPL JAK2 HAMP EPOR EPO EPAS1
15 myeloproliferative neoplasm 28.4 MPL JAK2 EPOR EPO CD177 ABL1
16 deficiency anemia 28.0 MPL JAK2 HAMP EPOR EPO EPAS1
17 autosomal recessive secondary polycythemia not associated with vhl gene 11.3
18 erythropoietin polycythemia 11.1
19 acquired secondary polycythemia 11.1
20 congenital secondary polycythemia 11.1
21 lumbosacral lipoma 10.3 EPOR EPO
22 progressive myoclonus epilepsy 9 10.3 EPOR EPO
23 neonatal anemia 10.2 EPOR EPO
24 chronic mountain sickness 10.2 EPO EPAS1
25 epiglottis cancer 10.2 EPO CYGB
26 duodenal somatostatinoma 10.2 EPAS1 EGLN1
27 lung clear cell carcinoma 10.2 HAMP EPO
28 esophagus leiomyoma 10.2 EPAS1 EGLN1
29 benign essential hypertension 10.2 JAK2 CYGB
30 persistent generalized lymphadenopathy 10.1 EPAS1 EGLN1
31 renal cell carcinoma, nonpapillary 10.1
32 hemochromatosis, type 3 10.1 HAMP EPOR
33 hemosiderosis 10.1 HAMP EPO
34 acute erythroid leukemia 10.1 JAK2 EPOR EPO
35 respiratory failure 10.1
36 renal tubular acidosis 10.1
37 distal renal tubular acidosis 10.1
38 amegakaryocytic thrombocytopenia, congenital 10.1 MPL JAK2
39 plethora of newborn 10.1 EPO EPAS1 EGLN1
40 anemia, congenital dyserythropoietic, type ia 10.1 HAMP EPO
41 anemia of prematurity 10.0 HAMP EPOR EPO
42 erythrocytosis, familial, 3 10.0 EGLN1 BPGM
43 thrombophilia due to thrombin defect 10.0
44 sleep apnea 10.0
45 hydronephrosis 10.0
46 nephrotic syndrome 10.0
47 lung disease 10.0
48 portal vein thrombosis 10.0 MPL JAK2
49 ichthyosis, congenital, autosomal recessive 11 10.0 EPAS1 EGLN1
50 hemochromatosis, type 1 10.0

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:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hypotension 31 hallmark (90%) HP:0002615
2 hypertension 31 hallmark (90%) HP:0000822
3 acrocyanosis 31 hallmark (90%) HP:0001063
4 obesity 31 hallmark (90%) HP:0001513
5 venous thrombosis 31 hallmark (90%) HP:0004936
6 stroke 31 hallmark (90%) HP:0001297
7 erythema 31 hallmark (90%) HP:0010783
8 headache 31 hallmark (90%) HP:0002315
9 arterial thrombosis 31 hallmark (90%) HP:0004420
10 venous insufficiency 31 hallmark (90%) HP:0005293
11 visceral angiomatosis 31 hallmark (90%) HP:0100761
12 gastrointestinal infarctions 31 hallmark (90%) HP:0005244
13 lethargy 31 hallmark (90%) HP:0001254
14 abnormal leukocyte morphology 31 hallmark (90%) HP:0001881
15 clubbing 31 frequent (33%) HP:0001217

MGI Mouse Phenotypes related to Acquired Polycythemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.97 ABL1 BPGM CD177 EGLN1 EPAS1 EPO
2 cardiovascular system MP:0005385 9.95 ABL1 CYGB EGLN1 EPAS1 EPO EPOR
3 embryo MP:0005380 9.91 ABL1 EGLN1 EPAS1 EPO EPOR JAK2
4 homeostasis/metabolism MP:0005376 9.91 ABL1 BPGM CYGB EGLN1 EPAS1 EPO
5 immune system MP:0005387 9.81 ABL1 BPGM CD177 EGLN1 EPAS1 EPO
6 liver/biliary system MP:0005370 9.5 ABL1 CYGB EGLN1 EPAS1 EPO EPOR
7 respiratory system MP:0005388 9.17 ABL1 CYGB EGLN1 EPAS1 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: a Multicentric Study. Co-Rebreathing for the Measurement of Total Red Cell Mass in Polycythemia. Unknown status NCT03008642

Search NIH Clinical Center for Acquired Polycythemia

Genetic Tests for Acquired Polycythemia

Anatomical Context for Acquired Polycythemia

MalaCards organs/tissues related to Acquired Polycythemia:

40
Bone Marrow, Bone, Heart, Kidney, Liver, Endothelial, Brain

Publications for Acquired Polycythemia

Articles related to Acquired Polycythemia:

(show top 50) (show all 301)
# Title Authors PMID Year
1
[Erythropoietin: indications and measurement]. 61 54
19789122 2009
2
Evaluation of "increased" hemoglobin in the JAK2 mutations era: a diagnostic algorithm based on genetic tests. 54 61
17493421 2007
3
Genetic mechanisms underlying regulation of hemoglobin mass. 54 61
18269198 2007
4
Diagnostic usefulness of the Janus kinase 2 mutation in non BCR/ABL myeloproliferative disorders. 61 54
17249502 2006
5
Secondary polycythemia caused by ureteropelvic junction obstruction successfully treated by laparoscopic nephrectomy. 54 61
16750248 2006
6
Polycythemia and oxygen sensing. 61 54
15217714 2004
7
Increased serum levels of vascular endothelial growth factor correlate with splenomegaly in polycythemia vera. 54 61
12363469 2002
8
Determination of serum erythropoietin. Its value in the differential diagnosis of polycythemias. 61 54
8036136 1994
9
[Secondary polycythemias: the role of erythropoietin]. 61 54
8272712 1993
10
[Erythropoietin determination in clinical medicine]. 54 61
8350498 1993
11
[Assay of erythropoietin in serum with short term enzyme linked immunosorbent assay method--the clinical significance, Part 1: Relation to anemia in renal failure and hematological disorders]. 54 61
8345655 1993
12
[Polycythemia: primary or secondary? The differential diagnostic value of stem cell cultures]. 61 54
8426948 1993
13
Serum erythropoietin titers in hematological malignancies and related diseases. 54 61
1460322 1992
14
Polycythemia vera. 61 54
1587207 1992
15
Immunohistochemical study of erythropoietin in cerebellar hemangioblastomas associated with secondary polycythemia. 61 54
1994278 1991
16
Higher red blood cell distribution width might differentiate primary from secondary polycythemia: A pilot study. 61
33108020 2021
17
Pazopanib-related secondary polycythemia in metastatic myxofibrosarcoma: A case report and review of the literature. 61
32838682 2021
18
A cross-sectional comparison of secondary polycythemia in testosterone-deficient men treated with nasal testosterone gel vs. intramuscular testosterone cypionate. 61
32744998 2021
19
Bone Marrow and Peripheral Blood Findings in Patients Infected by SARS-CoV-2. 61
33502434 2021
20
Might a high hemoglobin mass be involved in non-cardiogenic pulmonary edema? The case of the chronic maladaptation to high-altitude in the Andes. 61
33268002 2021
21
Generalized Chorea Due to Secondary Polycythemia Responding to Phlebotomy. 61
33121224 2021
22
Diagnostic Performance of Erythropoietin Levels in Polycythemia Vera: Experience at a Comprehensive Cancer Center. 61
33349602 2020
23
Hepatocellular Carcinoma With Extensive Cancer-associated Thrombosis Successfully Treated With Liver Resection and Direct Oral Anticoagulant: A Case Report. 61
33109585 2020
24
Polycythaemia Vera JAK 2 Mutation in a Patient with Underlying Chronic Obstructive Pulmonary Disease at a Primary Care Setting. 61
32512984 2020
25
Obstructive Sleep Apnea Is Associated With Polycythemia in Hypogonadal Men on Testosterone Replacement Therapy. 61
32307242 2020
26
General Anesthesia During Lip Repair and Palatoplasty After Glenn Surgery. 61
32633768 2020
27
Erythropoietin-producing clear cell renal cell carcinoma associated with secondary polycythemia. 61
32536533 2020
28
Venous thromboembolism associated with hyperhomocysteinemia, homozygosity for the methylenetetrahydrofolate reductase 677C>T gene variant, and secondary polycythemia. 61
32004198 2020
29
Differential cytokine network profile in polycythemia vera and secondary polycythemia. 61
32341381 2020
30
Acute normovolemic hemodilution for a patient with secondary polycythemia undergoing aortic valve replacement due to severe aortic stenosis - A case report. 61
33329811 2020
31
Tobacco smoking causes secondary polycythemia and a mild leukocytosis among heavy smokers in Taif City in Saudi Arabia. 61
31889864 2020
32
Increased Pulmonary GM-CSF Causes Alveolar Macrophage Accumulation. Mechanistic Implications for Desquamative Interstitial Pneumonitis. 61
31310562 2020
33
Anisocytosis is a poor prognostic factor in secondary polycythemia. 61
31190587 2019
34
Testosterone replacement therapy is associated with an increased risk of urolithiasis. 61
30903351 2019
35
Clinical Spectrum and Complications of Polycythemia, in Patients presenting at Tertiary Care Centre at Goa. 61
31571446 2019
36
An unusual case of pulmonary arterio-venous fistula (PAVF). 61
31742178 2019
37
UNUSUAL CAUSE OF BRANCH RETINAL ARTERY OCCLUSION: POLYCYTHEMIA IN A TRANSGENDER MAN FROM UNREGULATED TESTOSTERONE USE. 61
31464822 2019
38
Treating Myomatous Erythrocytosis Syndrome With Uterine Artery Embolization. 61
31135745 2019
39
Polycythemia in Patients With Hereditary Hemochromatosis: Real or Myth? 61
31143309 2019
40
Secondary polycythemia in a sarcoma patient: a commentary about cediranib. 61
30853801 2019
41
Nocturnal Mean Oxygen Saturation Is Associated with Secondary Polycythemia in Young Adults with Obstructive Sleep Apnea, Especially in Men. 61
31824198 2019
42
Management of macular edema with branch retinal vein occlusion in a case of secondary polycythemia. 61
31803567 2019
43
Hepatopulmonary syndrome-attributed extreme hypoxemia and polycythemia revealing liver cirrhosis. 61
30269997 2019
44
Clomiphene for hypogonadism complicated by polycythemia. 61
30956589 2019
45
The role of 18F-FDG PET in the assessment of a benign hematological disorder: polycythemia. 61
30843002 2019
46
[Detection and Diagnostic Values of JAK2, CALR, MPL Gene Mutations in 208 Cases of BCR/ABL1 Negative Chronic Myeloproliferative Diseases]. 61
30111418 2018
47
Ischemic Stroke Caused by Secondary Polycythemia and Incidentally-Found Renal Cell Carcinoma: A Case Report. 61
29861497 2018
48
A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2V617F positive polycythemia vera: a case report. 61
29534684 2018
49
[A case of severe obstructive sleep apnea hypopnea syndrome with urinary and anal incontinence]. 61
29701198 2018
50
Relationships of Serum Iron Parameters and Hemoglobin with Forced Expiratory Volume in 1 Second in Patients with Chronic Obstructive Pulmonary Disease. 61
29629039 2018

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.43 JAK2 EPOR EPO ABL1
2
Show member pathways
12.22 JAK2 EPAS1 EGLN1 ABL1
3
Show member pathways
11.96 MPL JAK2 EPOR EPO
4 11.83 JAK2 EPOR EPO EPAS1 EGLN1 ABL1
5
Show member pathways
11.79 JAK2 EPOR EPO
6
Show member pathways
11.48 JAK2 EPOR EPO
7 11.05 EPO EGLN1
8
Show member pathways
10.98 JAK2 EPOR EPO
9 10.89 EPOR EPO
10 10.66 EPO EPAS1 EGLN1

GO Terms for Acquired Polycythemia

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cellular response to hypoxia GO:0071456 9.61 MPL EPAS1 EGLN1
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.58 JAK2 EPOR EPO
3 acute-phase response GO:0006953 9.55 HAMP EPO
4 iron ion homeostasis GO:0055072 9.54 HAMP EPAS1
5 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.54 EPO EPAS1 EGLN1
6 regulation of endocytosis GO:0030100 9.52 CD177 ABL1
7 platelet-derived growth factor receptor signaling pathway GO:0048008 9.51 JAK2 ABL1
8 JAK-STAT cascade GO:0007259 9.49 JAK2 HAMP
9 response to vitamin A GO:0033189 9.48 HAMP EPO
10 negative regulation of cell-cell adhesion GO:0022408 9.46 JAK2 ABL1
11 response to hypoxia GO:0001666 9.46 EPO EPAS1 EGLN1 CYGB
12 erythrocyte differentiation GO:0030218 9.43 JAK2 EPO EPAS1
13 erythropoietin-mediated signaling pathway GO:0038162 9.32 EPOR EPO
14 positive regulation of Ras protein signal transduction GO:0046579 9.13 JAK2 EPOR EPO
15 response to oxidative stress GO:0006979 8.92 JAK2 EPAS1 CYGB ABL1

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

# Name GO ID Score Top Affiliating Genes
1 non-membrane spanning protein tyrosine kinase activity GO:0004715 8.96 JAK2 ABL1
2 SH2 domain binding GO:0042169 8.62 JAK2 ABL1

Sources for Acquired Polycythemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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