EPB42 gene related symptoms and diseases
All the information presented here about the EPB42 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EPB42 gene
Symptoms // Phenotype | % Cases |
---|---|
Anemia | Very Common - Between 80% and 100% cases |
Spherocytosis | Very Common - Between 80% and 100% cases |
Hemolytic anemia | Very Common - Between 80% and 100% cases |
Short stature | Uncommon - Between 30% and 50% cases |
Elliptocytosis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with EPB42 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Reticulocytosis
- Autoimmune hemolytic anemia
- Cholelithiasis
- Hyperbilirubinemia
- Palpitations
- Delayed puberty
- Erythema
- Hypertrophic cardiomyopathy
And 7 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EPB42 gene
Here you will find a list of rare diseases related to the EPB42. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HEREDITARY SPHEROCYTOSIS
Alternate names
HEREDITARY SPHEROCYTOSIS Is also known as sph, hs, minkowski-chauffard disease, hs1, spherocytosis, hereditary, 1
Description
Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.
Most common symptoms of HEREDITARY SPHEROCYTOSIS
- Short stature
- Anemia
- Fatigue
- Abnormality of the skeletal system
- Cardiomyopathy
More info about HEREDITARY SPHEROCYTOSIS
SPHEROCYTOSIS, TYPE 5; SPH5
Alternate names
SPHEROCYTOSIS, TYPE 5; SPH5 Is also known as spherocytosis, hereditary, 5, hs5
Most common symptoms of SPHEROCYTOSIS, TYPE 5; SPH5
- Anemia
- Hemolytic anemia
- Spherocytosis
More info about SPHEROCYTOSIS, TYPE 5; SPH5
Search interest in EPB42
Potential gene panels for EPB42 gene
Red Blood Cell Membrane Disorders 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 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 panelHemolytic Anemia 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 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 panelEPB42 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the EPB42 gene.
More info about this panelEPB42 Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the EPB42 gene.
More info about this panelHemolytic Anemia Deletion/Duplication Panel Panel
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 panelRed Blood Cell Membrane Disorders Deletion/Duplication Panel Panel
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 panelHereditary Hemolytic Anemia Panel, Sequencing Panel
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 panelEPB42. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EPB42 gene.
More info about this panelEPB42. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EPB42 gene.
More info about this panelHereditary spherocytosis type 5 (sequence analysis of EPB42) Panel
By CGC Genetics
This panel specifically test the EPB42 gene.
More info about this panelHereditary spherocytosis (NGS panel for 5 genes) Panel
By CGC Genetics Hereditary spherocytosis (NGS panel for 5 genes) that also includes the following genes: SPTA1 SPTB EPB42 ANK1
More info about this panelHereditary spherocytosis (NGS panel for 5 genes) Panel
By CGC Genetics Hereditary spherocytosis (NGS panel for 5 genes) that also includes the following genes: SPTA1 SPTB EPB42 ANK1
More info about this panelSpherocytosis/Elliptocytosis Sequencing Panel with CNV Detection Panel
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 panelHereditary Spherocytosis via EPB42 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the EPB42 gene.
More info about this panelErythrocyte membrane disorder panel Panel
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 panelSpherocytosis type 5 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the EPB42 gene.
More info about this panelSpherocytosis panel Panel
By Centogene AG - the Rare Disease Company Spherocytosis panel that also includes the following genes: SPTA1 SPTB EPB42 ANK1
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
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 Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel
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 panelSPHEROCYTOSIS Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases SPHEROCYTOSIS that also includes the following genes: SPTA1 SPTB EPB42 ANK1
More info about this panelHereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel
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 panelHereditary Spherocytosis NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Hereditary Spherocytosis NGS Panel that also includes the following genes: SPTA1 SPTB EPB42 ANK1
More info about this panelEPB42 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EPB42 gene.
More info about this panelRed Blood Cell Membrane Disorder Panel Panel
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 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 panelAnemia Panel Panel
By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panelELLIPTOCYTOSIS 4 Panel
By Bioarray
This panel specifically test the EPB42 gene.
More info about this panelHereditary spherocytosis type 5 Panel
By Bioarray
This panel specifically test the EPB42 gene.
More info about this panelHereditary Spherocytosis (AD and AR) NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Hereditary Spherocytosis (AD and AR) NGS and Deletion/Duplication Panel that also includes the following genes: SPTA1 SPTB EPB42 ANK1
More info about this panelEPB42 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the EPB42 gene.
More info about this panelHEREDITARY SPHEROCYTOSIS Panel
By Laboratorio de Genetica Clinica SL HEREDITARY SPHEROCYTOSIS that also includes the following genes: SPTA1 SPTB EPB42 ANK1
More info about this panelHEREDITARY SPHEROCYTOSIS: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL HEREDITARY SPHEROCYTOSIS: NGS PANEL that also includes the following genes: SPTA1 SPTB EPB42 ANK1
More info about this panelHereditary Spherocytosis Type 5, Sequencing EPB42 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the EPB42 gene.
More info about this panelHereditary Spherocytosis , Panel Massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics Hereditary Spherocytosis , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SPTA1 SPTB EPB42 ANK1
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CTH BTLA FLG PDCD10 ALDH5A1 APC2 SLC26A2