EGLN1 gene related symptoms and diseases
All the information presented here about the EGLN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EGLN1 gene
Symptoms // Phenotype | % Cases |
---|---|
Polycythemia | Common - Between 50% and 80% cases |
Neoplasm | Uncommon - Between 30% and 50% cases |
Hypertension | Uncommon - Between 30% and 50% cases |
Paraganglioma | Uncommon - Between 30% and 50% cases |
Increased hemoglobin | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with EGLN1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Increased hematocrit
- Increased red blood cell mass
- Abnormality of blood and blood-forming tissues
Rare diseases associated to EGLN1 gene
Here you will find a list of rare diseases related to the EGLN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ERYTHROCYTOSIS, FAMILIAL, 3; ECYT3
Most common symptoms of ERYTHROCYTOSIS, FAMILIAL, 3; ECYT3
- Neoplasm
- Hypertension
- Polycythemia
- Paraganglioma
- Increased hemoglobin
More info about ERYTHROCYTOSIS, FAMILIAL, 3; ECYT3
HEMOGLOBIN, HIGH ALTITUDE ADAPTATION; HALAH
Alternate names
HEMOGLOBIN, HIGH ALTITUDE ADAPTATION; HALAH Is also known as hemoglobin, high oxygen saturation of
Description
Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by Lorenzo et al., 2014).
Most common symptoms of HEMOGLOBIN, HIGH ALTITUDE ADAPTATION; HALAH
- Abnormality of blood and blood-forming tissues
- Polycythemia
More info about HEMOGLOBIN, HIGH ALTITUDE ADAPTATION; HALAH
SOURCES: OMIM
AUTOSOMAL DOMINANT SECONDARY POLYCYTHEMIA
Alternate names
AUTOSOMAL DOMINANT SECONDARY POLYCYTHEMIA Is also known as autosomal dominant secondary erythrocytosis
Description
Autosomal dominant secondary polycythemia is a rare, genetic, hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance.
More info about AUTOSOMAL DOMINANT SECONDARY POLYCYTHEMIA
SOURCES: ORPHANET
Search interest in EGLN1
Potential gene panels for EGLN1 gene
Erythrocytosis 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 panelHereditary Pheochromocytoma and Paraganglioma Panel Panel
By Genetic Services Laboratory University of Chicago Hereditary Pheochromocytoma and Paraganglioma Panel that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 EPAS1
More info about this panelErythrocytosis familial, 3 (sequence analysis of EGLN1 gene) Panel
By CGC Genetics
This panel specifically test the EGLN1 gene.
More info about this panelPheochromocytoma and paraganglioma (NGS panel for 16 genes) Panel
By CGC Genetics Pheochromocytoma and paraganglioma (NGS panel for 16 genes) that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 FH
More info about this panelPheochromocytoma and paraganglioma (NGS panel for 16 genes) Panel
By CGC Genetics Pheochromocytoma and paraganglioma (NGS panel for 16 genes) that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 FH
More info about this panelErythrocytosis, familial type 3 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the EGLN1 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: EGLN1 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the EGLN1 gene.
More info about this panelErythrocytosis, Familial: EGLN1 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the EGLN1 gene.
More info about this panelHereditary Cancer NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panelParaganglioma-Pheochromocytomas NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Paraganglioma-Pheochromocytomas NGS Panel that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 MAX
More info about this panelEGLN1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EGLN1 gene.
More info about this panelComprehensive Cancer Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
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 panelPOLYCYTHEMIA, SECONDARY (AUTOSOMAL DOMINANT) Panel
By Laboratorio de Genetica Clinica SL POLYCYTHEMIA, SECONDARY (AUTOSOMAL DOMINANT) that also includes the following genes: EGLN1 EPAS1
More info about this panelFamilial Erythrocytosis, Sequencing EGLN1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the EGLN1 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 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
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