EPOR gene related symptoms and diseases
All the information presented here about the EPOR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EPOR gene
Symptoms // Phenotype | % Cases |
---|---|
Leukemia | Very Common - Between 80% and 100% cases |
Pain | Uncommon - Between 30% and 50% cases |
Plethora | Uncommon - Between 30% and 50% cases |
Polycythemia | Uncommon - Between 30% and 50% cases |
Thromboembolism | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with EPOR gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abnormal hemoglobin
- Increased hemoglobin
- Increased hematocrit
- Increased red blood cell mass
- Cerebral hemorrhage
- Peripheral thrombosis
- Anemia
- Leukopenia
And 22 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EPOR gene
Here you will find a list of rare diseases related to the EPOR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PRIMARY FAMILIAL POLYCYTHEMIA
Alternate names
PRIMARY FAMILIAL POLYCYTHEMIA Is also known as polycythemia, primary familial and congenital, primary familial and congenital polycythemia, familial erythrocytosis, erythrocytosis, autosomal dominant benign, pfcp, congenital polycythemia due to erythropoietin receptor mutation, congenital erythrocytosis due
Description
Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.
Most common symptoms of PRIMARY FAMILIAL POLYCYTHEMIA
- Pain
- Hypertension
- Fatigue
- Respiratory distress
- Splenomegaly
More info about PRIMARY FAMILIAL POLYCYTHEMIA
ERYTHROLEUKEMIA, FAMILIAL
Alternate names
ERYTHROLEUKEMIA, FAMILIAL Is also known as di guglielmo disease, familial, leukemia, acute myelogenous, m6
Description
Familial erythroleukemia is a leukemic or preleukemic state in which red cell proliferation is the predominant feature. Hematologic characteristics include particularly ineffective and hyperplastic erythropoiesis with megaloblastic components accompanied by myeloblastic proliferation of varying degree (Park et al., 2002).Park et al. (2002) discussed the evolution of the definition of 'erythroleukemia,' which is considered by most to be a subtype of acute myelogenous leukemia (AML ). Controversy about the precise definition of erythroleukemia revolves around the number or percentage of erythroblasts and myeloblasts found in the bone marrow and peripheral circulation. In the French-American-British (FAB) classification system (Bennett et al., 1985), it is known as AML-M6, whereas in the revised World Health Organization (WHO) classification system (Harris et al., 1999), it is known as 'AML, not otherwise categorized' (Zini and D'Onofrio, 2004).
Most common symptoms of ERYTHROLEUKEMIA, FAMILIAL
- Anemia
- Leukemia
- Leukopenia
- Myelodysplasia
- Acute myeloid leukemia
More info about ERYTHROLEUKEMIA, FAMILIAL
Search interest in EPOR
Potential gene panels for EPOR gene
EPOR Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the EPOR gene.
More info about this panelErythrocytosis Panel by next-generation sequencing (NGS) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Erythrocytosis Panel by next-generation sequencing (NGS) that also includes the following genes: BPGM EGLN1 VHL EPAS1 EPOR HBA1 HBA2 HBB JAK2
More info about this panelEPOR. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EPOR gene.
More info about this panelErythrocytosis, familial (sequence analysis of EPOR gene) Panel
By CGC Genetics
This panel specifically test the EPOR gene.
More info about this panelErythrocytosis (sequence analysis of EPOR gene) Panel
By CGC Genetics
This panel specifically test the EPOR gene.
More info about this panelPrimary Familial and Congenital Polycythemia (PFCP) via EPOR Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the EPOR gene.
More info about this panelErythrocytosis, familial type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the EPOR gene.
More info about this panelErythrocytes, Anemia Panel Panel
By CeGaT GmbH Erythrocytes, Anemia Panel that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7 SEC23B
More info about this panelNGS Panel for Congenital Erythrocythosis or Familiar Polycythemia Panel
By BLOODGENETICS BLOODGENETICS NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia that also includes the following genes: BPGM EGLN1 VHL SH2B3 EPAS1 EPOR JAK2
More info about this panelErythrocytosis, Familial: EPOR gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the EPOR gene.
More info about this panelEPOR Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EPOR gene.
More info about this panelComprehensive Hematology Panel Panel
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panelFamilial erythrocytosis Panel
By Bioarray
This panel specifically test the EPOR gene.
More info about this panelFAMILIAL ERYTHROCYTOSIS Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the EPOR gene.
More info about this panelPRIMARY FAMILIAL POLYCYTHEMIA Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the EPOR gene.
More info about this panelFamilial Erythrocytosis, Sequencing EPOR Gene Panel
By Reference Laboratory Genetics
This panel specifically test the EPOR gene.
More info about this panelFamilial Erythrocytosis , Panel Massive Sequencing (NGS) 4 Genes Panel
By Reference Laboratory Genetics Familial Erythrocytosis , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: EGLN1 VHL EPAS1 EPOR
More info about this panelFamilial erythrocytosis, 1 Panel
By Labor Dr. Wisplinghoff
This panel specifically test the EPOR gene.
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panelPrimary Familial and Congenital Polycythemia: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the EPOR gene.
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