Erythrocytosis familial, 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
The principal abnormality in this familial erythrocytosis appears to be a greatly expanded erythropoietic precursor pool that is responsive to erythropoietin in vitro and in vivo.
|
850518 |
1977 |
Erythrocytosis familial, 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Autosomal Dominant familial erythrocytosis due to autonomous erythropoietin production.
|
7306703 |
1981 |
Erythrocytosis familial, 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
Alterations of the EPO/EPO-R system have recently been shown to be involved in the pathogenesis of familial erythrocytosis and polycythaemia vera (PV).
|
7819104 |
1994 |
Erythrocytosis familial, 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin.
|
7795221 |
1995 |
Erythrocytosis familial, 1
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Primary familial and congenital polycythemia (PFCP; also known as familial erythrocytosis) is characterized by elevated red blood cell mass, low serum erythropoietin (EPO) level, normal oxygen affinity of hemoglobin, and typically autosomal dominant inheritance.
|
9292543 |
1997 |
Erythrocytosis familial, 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
Primary familial and congenital polycythemia (PFCP or familial erythrocytosis) is a rare proliferative disorder of erythroid progenitor cells, characterized by elevated erythrocyte mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to erythropoietin (EPO), and autosomal dominant inheritance or sporadic occurrence.
|
9649565 |
1998 |
Erythrocytosis familial, 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
These results suggest a role for Stat5 in regulation of Epo-mediated cell growth and implicate altered kinetics of Epo-induced Jak2 and Stat5 activation in the pathogenesis of familial erythrocytosis associated with this naturally occurring EpoR gene mutation.
|
9923445 |
1999 |
Erythrocytosis familial, 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
Inherited mutations in the erythropoietin receptor (EPOR) causing premature termination of the receptor cytoplasmic region are associated with dominant familial erythrocytosis (FE), a benign clinical condition characterized by hypersensitivity of erythroid progenitor cells to EPO and low serum EPO (S-EPO) levels.
|
10498627 |
1999 |
Erythrocytosis familial, 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.
|
23716564 |
2013 |
Erythrocytosis familial, 1
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
|
27651169 |
2016 |
Erythrocytosis familial, 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A Gain-of-Function Mutation in EPO in Familial Erythrocytosis.
|
29514032 |
2018 |
Erythrocytosis familial, 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Publications reporting EPOR and EPO sequence variants associated with FE or clinical features of erythrocytosis were retrieved from PubMed and WoS.
|
30507031 |
2019 |