MCID: ERY007
MIFTS: 17

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 74
Polycythaemia Due to Excess Erythropoetin Production 12
Secondary Polycythemia with Excess Erythropoietin 12
Polycythemia, Nephrogenous 12
Nephrogenous Polycythemia 12
Familial Erythrocytosis 74

Classifications:



External Ids:

Disease Ontology 12 DOID:2839
NCIt 51 C35434
SNOMED-CT 69 43918003
ICD10 34 D75.1

Summaries for Erythropoietin Polycythemia

MalaCards based summary : Erythropoietin Polycythemia, also known as polycythemia due to excess erythopoetin production, is related to polycythemia and polycythemia vera, 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 10.1
2 polycythemia vera 10.0

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 all 32)
# Title Authors Year
1
A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. ( 29514032 )
2018
2
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. ( 29891534 )
2018
3
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis. ( 30507031 )
2018
4
Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)] in a Chinese Family as a Cause of Familial Erythrocytosis. ( 27240426 )
2016
5
Clinical utility gene card for: familial erythrocytosis. ( 22274579 )
2012
6
[Mutations in hypoxia-inducible factor and its regulatory molecules in familial erythrocytosis]. ( 19915370 )
2009
7
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. ( 18184961 )
2008
8
The HIF2A gene in familial erythrocytosis. ( 18450610 )
2008
9
The HIF2A gene in familial erythrocytosis. ( 18456917 )
2008
10
The HIF2A gene in familial erythrocytosis. ( 18456918 )
2008
11
A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis. ( 18508787 )
2008
12
Familial erythrocytosis: molecular links to red blood cell control. ( 18591620 )
2008
13
Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway. ( 18711622 )
2008
14
A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. ( 11929803 )
2002
15
A human erythropoietin receptor gene mutant causing familial erythrocytosis is associated with deregulation of the rates of Jak2 and Stat5 inactivation. ( 9923445 )
1999
16
Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. ( 10498627 )
1999
17
Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. ( 9192789 )
1997
18
Haemoglobin Hallamshire (beta146 HIS --> TYR): a new high oxygen affinity haemoglobin responsible for familial erythrocytosis. ( 9054694 )
1996
19
Familial erythrocytosis genetically linked to erythropoietin receptor gene. ( 8093406 )
1993
20
Familial erythrocytosis with over-production of erythropoietin. ( 6667599 )
1983
21
Autosomal Dominant familial erythrocytosis due to autonomous erythropoietin production. ( 7306703 )
1981
22
Hemoglobin Pitie-Salpetriere beta 34 (B16) Val replaced by Phe. A new high oxygen affinity variant associated with familial erythrocytosis. ( 7417488 )
1980
23
Familial erythrocytosis. ( 504970 )
1979
24
Erythropoiesis in familial erythrocytosis. ( 850518 )
1977
25
Hemoglobin Wood beta97(FG4) His replaced by Leu. A new high-oxygen-affinity hemoglobin associated with familial erythrocytosis. ( 1164511 )
1975
26
Recessive familial erythrocytosis: aspects of marrow regulation in two families. ( 4694081 )
1973
27
Hemoglobin brigham (alpha2Abeta2100 Pro--Leu). Hemoglobin variant associated with familial erythrocytosis. ( 4719677 )
1973
28
Two cases of familial erythrocytosis with increased erythropoietin activity in plasma and urine. ( 4746102 )
1973
29
Familial erythrocytosis due to electrophoretically undetectable hemoglobin with impaired oxygen dissociation (hemoglobin Malmö, alpha 2 beta 2 97 gln). ( 5128393 )
1971
30
Familial erythrocytosis. A description of three families, one with hemoglobin Ypsilanti. ( 5687529 )
1968
31
Primary familial erythrocytosis. ( 6023479 )
1967
32
Benign familial erythrocytosis. Report of three cases and a review of the literature. ( 5946371 )
1966

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....