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.

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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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM MESH


Potential gene panels for EPOR gene

EPOR Sequencing Panel

United States.

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 panel

Erythrocytosis Panel by next-generation sequencing (NGS) Panel

United States.

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 panel

EPOR. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the EPOR gene.

More info about this panel

Erythrocytosis, familial (sequence analysis of EPOR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the EPOR gene.

More info about this panel

Erythrocytosis (sequence analysis of EPOR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the EPOR gene.

More info about this panel

Primary Familial and Congenital Polycythemia (PFCP) via EPOR Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the EPOR gene.

More info about this panel

Erythrocytosis, familial type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the EPOR gene.

More info about this panel

Erythrocytes, Anemia Panel Panel

Germany.

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 panel

NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia Panel

Spain.

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 panel

Erythrocytosis, Familial: EPOR gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the EPOR gene.

More info about this panel

EPOR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EPOR gene.

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

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 panel

Familial erythrocytosis Panel

Spain.

By Bioarray

This panel specifically test the EPOR gene.

More info about this panel

FAMILIAL ERYTHROCYTOSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the EPOR gene.

More info about this panel

PRIMARY FAMILIAL POLYCYTHEMIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the EPOR gene.

More info about this panel

Familial Erythrocytosis, Sequencing EPOR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the EPOR gene.

More info about this panel

Familial Erythrocytosis , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

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 panel

Familial erythrocytosis, 1 Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the EPOR gene.

More info about this panel

Tempus xT assay Panel

United States.

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 panel

Tempus xO assay Panel

United States.

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 panel

Primary Familial and Congenital Polycythemia: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the EPOR gene.

More info about this panel


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