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
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).
Most common symptoms of ELLIPTOCYTOSIS 1; EL1
- Anemia
- Jaundice
- Pallor
- Hemolytic anemia
- Poikilocytosis
More info about ELLIPTOCYTOSIS 1; EL1
Search interest in EPB41
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Portugal.
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 United States.
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 Netherlands.
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 Spain.
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 United States.
EPB41 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EPB41 gene.
More info about this panel United States.
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 Finland.
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 Finland.
Hereditary Elliptocytosis , Sequencing EPB41 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the EPB41 gene.
More info about this panel Spain.
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 Spain.
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