MCID: ERY007
MIFTS: 15

Erythropoietin Polycythemia

Categories: Blood diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Erythropoietin Polycythemia

MalaCards integrated aliases for Erythropoietin Polycythemia:

Name: Erythropoietin Polycythemia 12
Polycythemia Due to Excess Erythopoetin Production 12 71
Polycythaemia Due to Excess Erythropoetin Production 12
Secondary Polycythemia with Excess Erythropoietin 12
Polycythemia, Nephrogenous 12
Nephrogenous Polycythemia 12
Familial Erythrocytosis 71

Classifications:



External Ids:

Disease Ontology 12 DOID:2839
NCIt 49 C35434
SNOMED-CT 67 43918003
ICD10 32 D75.1
UMLS 71 C0152264 C0391869

Summaries for Erythropoietin Polycythemia

MalaCards based summary : Erythropoietin Polycythemia, also known as polycythemia due to excess erythopoetin production, is related to polycythemia, and has symptoms including fatigue, headache and dizziness.

Related Diseases for Erythropoietin Polycythemia

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

# Related Disease Score Top Affiliating Genes
1 polycythemia 9.9

Symptoms & Phenotypes for Erythropoietin Polycythemia

UMLS symptoms related to Erythropoietin Polycythemia:


fatigue, headache, dizziness, dyspnea on exertion

Drugs & Therapeutics for Erythropoietin Polycythemia

Search Clinical Trials , NIH Clinical Center for Erythropoietin Polycythemia

Genetic Tests for Erythropoietin Polycythemia

Anatomical Context for Erythropoietin Polycythemia

Publications for Erythropoietin Polycythemia

Articles related to Erythropoietin Polycythemia:

(show top 50) (show all 80)
# Title Authors PMID Year
1
Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases. 61
31376207 2019
2
A Kindred with a β-Globin Base Substitution [β89(F5)Ser→Arg (AGT>AGG); HBB: c.270T>G] Resulting in Hemoglobin Vanderbilt. 61
31657650 2019
3
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis. 61
30507031 2019
4
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. 61
29891534 2018
5
A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. 61
29514032 2018
6
EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis. 61
27292716 2016
7
Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)] in a Chinese Family as a Cause of Familial Erythrocytosis. 61
27240426 2016
8
Structural basis for oxygen degradation domain selectivity of the HIF prolyl hydroxylases. 61
27561929 2016
9
Idiopathic erythrocytosis: a study of a large cohort with a long follow-up. 61
26547864 2016
10
Linking tissues to phenotypes using gene expression profiles. 61
24634472 2014
11
Genetic basis of congenital erythrocytosis: mutation update and online databases. 61
24115288 2014
12
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range. 61
23716564 2013
13
Regulation of erythropoiesis by hypoxia-inducible factors. 61
23291219 2013
14
Erythrocytosis in a child due to Hb Andrew-Minneapolis [β144(HC1)Lys→Asn (AAG>AAT or AAC)] associated with a Spanish (δβ)(0)-thalassemia. 61
23215953 2013
15
Familial secondary erythrocytosis due to increased oxygen affinity is caused by destabilization of the T state of hemoglobin Brigham (α₂β₂(Pro100Leu)). 61
22821886 2012
16
Clinical utility gene card for: familial erythrocytosis. 61
22274579 2012
17
[Molecular markers in hematology and oncology]. 61
20859878 2010
18
[Mutations in hypoxia-inducible factor and its regulatory molecules in familial erythrocytosis]. 61
19915370 2009
19
Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis. 61
19494350 2009
20
PHD2 mutation and congenital erythrocytosis with paraganglioma. 61
19092153 2008
21
Biochemical characterization of human prolyl hydroxylase domain protein 2 variants associated with erythrocytosis. 61
18834144 2008
22
A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis. 61
18508787 2008
23
Familial erythrocytosis: molecular links to red blood cell control. 61
18591620 2008
24
The HIF2A gene in familial erythrocytosis. 61
18456917 2008
25
The HIF2A gene in familial erythrocytosis. 61
18450610 2008
26
Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway. 61
18711622 2008
27
The HIF2A gene in familial erythrocytosis. 61
18456918 2008
28
Disturbance in the HIF-1alpha pathway associated with erythrocytosis: further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene. 61
17933562 2008
29
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. 61
18184961 2008
30
Cellular oxygen sensing: Crystal structure of hypoxia-inducible factor prolyl hydroxylase (PHD2). 61
16782814 2006
31
Oxygen sensing: recent insights from idiopathic erythrocytosis. 61
16687917 2006
32
A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. 61
16407130 2006
33
A basic classification and a comprehensive examination of pediatric myeloproliferative syndromes. 61
15838389 2005
34
A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. 61
11929803 2002
35
Familial polycythemia due to truncations of the erythropoietin receptor. 61
10881330 2000
36
Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. 61
10498627 1999
37
A human erythropoietin receptor gene mutant causing familial erythrocytosis is associated with deregulation of the rates of Jak2 and Stat5 inactivation. 61
9923445 1999
38
Congenital erythrocytosis with elevated erythropoietin level: an incorrectly set "erythrostat"? 61
9856679 1998
39
The distal cytoplasmic domain of the erythropoietin receptor induces granulocytic differentiation in 32D cells. 61
9694710 1998
40
Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. 61
9649565 1998
41
Physiology and function of the erythropoietin receptor. 61
9664155 1998
42
Erythrocytosis due to a mutation in the erythropoietin receptor gene. 61
9488636 1998
43
The erythropoietin receptor gene is not linked with the polycythemia phenotype in a family with autosomal dominant primary polycythemia. 61
9394420 1997
44
Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias. 61
9292543 1997
45
Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. 61
9192789 1997
46
Haemoglobin Hallamshire (beta146 HIS --> TYR): a new high oxygen affinity haemoglobin responsible for familial erythrocytosis. 61
9054694 1996
47
"Benign erythrocytosis" and other familial and congenital polycythemias. 61
8982288 1996
48
Physician Education: The Erythropoietin Receptor and Signal Transduction. 61
10388012 1996
49
Molecular analysis of the erythropoietin receptor system in patients with polycythaemia vera. 61
7819104 1994
50
The molecular physiology of erythropoietin and the erythropoietin receptor. 61
9371269 1994

Variations for Erythropoietin Polycythemia

Expression for Erythropoietin Polycythemia

Search GEO for disease gene expression data for Erythropoietin Polycythemia.

Pathways for Erythropoietin Polycythemia

GO Terms for Erythropoietin Polycythemia

Sources for Erythropoietin Polycythemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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39 LOVD
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45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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