EPB41 gene related symptoms and diseases

All the information presented here about the EPB41 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to EPB41 gene

Symptoms // Phenotype % Cases
Anemia Very Common - Between 80% and 100% cases
Jaundice Very Common - Between 80% and 100% cases
Elliptocytosis Very Common - Between 80% and 100% cases
Fatigue Uncommon - Between 30% and 50% cases
Respiratory distress Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with EPB41 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Cholelithiasis
  • Pallor
  • Hemolytic anemia
  • Poikilocytosis
  • Congenital hemolytic anemia
  • Pyropoikilocytosis
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Rare diseases associated to EPB41 gene

Here you will find a list of rare diseases related to the EPB41. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY ELLIPTOCYTOSIS


Alternate names

HEREDITARY ELLIPTOCYTOSIS Is also known as he

Description

Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.

Most common symptoms of HEREDITARY ELLIPTOCYTOSIS

  • Anemia
  • Fatigue
  • Respiratory distress
  • Jaundice
  • Cholelithiasis


More info about HEREDITARY ELLIPTOCYTOSIS

SOURCES: ORPHANET

ELLIPTOCYTOSIS 1; EL1


Alternate names

ELLIPTOCYTOSIS 1; EL1 Is also known as protein 4.1 of erythrocyte membrane, defect of, elliptocytosis, rhesus-linked type, 4.1- trait, 4.1-minus trait

Description

Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Usually inherited as an autosomal dominant trait, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton (summary by McGuire et al., 1988). Genetic Heterogeneity of ElliptocytosisElliptocytosis-2 (OMIM ) is caused by mutation in the SPTA1 gene (OMIM ). Elliptocytosis-3 (OMIM ) is caused by mutation in the SPTB gene (OMIM ). Elliptocytosis-4 (OMIM ), also known as Southeast Asian ovalocytosis, is caused by mutation in the SLC4A1 gene (OMIM ). Also see pyropoikilocytosis (OMIM ).See Delaunay (2007) for a discussion of the molecular basis of hereditary red cell membrane disorders.

Most common symptoms of ELLIPTOCYTOSIS 1; EL1

  • Anemia
  • Jaundice
  • Pallor
  • Hemolytic anemia
  • Poikilocytosis


More info about ELLIPTOCYTOSIS 1; EL1

SOURCES: OMIM MESH


Potential gene panels for EPB41 gene

Red Blood Cell Membrane Disorders 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 Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SLC2A1 SPTA1 SPTB XK ATP11C ABCG5 ABCG8 COL4A1 PIEZO1

More info about this panel

Hemolytic Anemia 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 Hemolytic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ATP11C ABCG5 ABCG8

More info about this panel

EPB41 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 EPB41 gene.

More info about this panel

EPB41 Deletion/duplication analysis 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 EPB41 gene.

More info about this panel

Hemolytic Anemia Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Deletion/Duplication Panel that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ABCG5 ABCG8 LPIN2

More info about this panel

Red Blood Cell Membrane Disorders Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Membrane Disorders Deletion/Duplication Panel that also includes the following genes: RHAG SLC2A1 SPTA1 SPTB XK ABCG5 ABCG8 PIEZO1 EPB41 EPB42

More info about this panel

Hereditary Hemolytic Anemia Panel, Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemolytic Anemia Panel, Sequencing that also includes the following genes: SLCO1B1 SLCO1B3 SPTA1 SPTB TPI1 UGT1A1 UGT1A6 UGT1A7 NT5C3A ADA

More info about this panel

Elliptocytosis 1 (EL1, sequence analysis of EPB41 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the EPB41 gene.

More info about this panel

Spherocytosis/Elliptocytosis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Spherocytosis/Elliptocytosis Sequencing Panel with CNV Detection that also includes the following genes: SPTA1 SPTB EPB41 EPB42 ANK1

More info about this panel

Erythrocyte membrane disorder panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Erythrocyte membrane disorder panel that also includes the following genes: RHAG SPTA1 SPTB EPB41 EPB42 ANK1

More info about this panel

NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies that also includes the following genes: RHAG BPGM SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK ABCG5 ABCG8

More info about this panel

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel

United States.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies that also includes the following genes: RHAG RPS19 SEC23B SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK CD59

More info about this panel

EPB41 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EPB41 gene.

More info about this panel

Red Blood Cell Membrane Disorder Panel Panel

Finland.

By Blueprint Genetics Red Blood Cell Membrane Disorder Panel that also includes the following genes: RHAG SPTA1 SPTB EPB41 EPB42 ANK1

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

Hereditary Elliptocytosis , Sequencing EPB41 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the EPB41 gene.

More info about this panel

Hereditary Elliptocytosis , Panel Massive Sequencing (NGS) 3 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Elliptocytosis , Panel Massive Sequencing (NGS) 3 Genes that also includes the following genes: SPTA1 EPB41 GYPC

More info about this panel


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