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
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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

SOURCES: OMIM MESH

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


Potential gene panels for EGLN1 gene

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

Hereditary Pheochromocytoma and Paraganglioma Panel Panel

United States.

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 panel

Erythrocytosis familial, 3 (sequence analysis of EGLN1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the EGLN1 gene.

More info about this panel

Pheochromocytoma and paraganglioma (NGS panel for 16 genes) Panel

Portugal.

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 panel

Pheochromocytoma and paraganglioma (NGS panel for 16 genes) Panel

Portugal.

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 panel

Erythrocytosis, familial type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the EGLN1 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: EGLN1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the EGLN1 gene.

More info about this panel

Erythrocytosis, Familial: EGLN1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the EGLN1 gene.

More info about this panel

Hereditary Cancer NGS Panel Panel

United States.

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 panel

Paraganglioma-Pheochromocytomas NGS Panel Panel

United States.

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 panel

EGLN1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EGLN1 gene.

More info about this panel

Comprehensive Cancer Panel Panel

United States.

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 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

POLYCYTHEMIA, SECONDARY (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL POLYCYTHEMIA, SECONDARY (AUTOSOMAL DOMINANT) that also includes the following genes: EGLN1 EPAS1

More info about this panel

Familial Erythrocytosis, Sequencing EGLN1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the EGLN1 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

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


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