SPTA1 gene related symptoms and diseases
All the information presented here about the SPTA1 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 SPTA1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Anemia | Very Common - Between 80% and 100% cases |
| Elliptocytosis | Common - Between 50% and 80% cases |
| Hemolytic anemia | Common - Between 50% and 80% cases |
| Poikilocytosis | Uncommon - Between 30% and 50% cases |
| Fatigue | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SPTA1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Jaundice
- Spherocytosis
- Hyperbilirubinemia
- Cholelithiasis
Rarely - Less than 30% cases
- Short stature
- Reticulocytosis
- Respiratory distress
- Microspherocytosis
And 12 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SPTA1 gene
Here you will find a list of rare diseases related to the SPTA1. 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 3; SPH3
Alternate names
SPHEROCYTOSIS, TYPE 3; SPH3 Is also known as spherocytosis, hereditary, 3, hs3
Most common symptoms of SPHEROCYTOSIS, TYPE 3; SPH3
- Anemia
- Hemolytic anemia
- Spherocytosis
More info about SPHEROCYTOSIS, TYPE 3; SPH3
PYROPOIKILOCYTOSIS, HEREDITARY; HPP
Description
Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.HPP is a subset of hereditary elliptocytosis (see {611804}) due to homozygous or compound heterozygous mutations in spectrin leading to severe disruption of spectrin self-association (review by An and Mohandas, 2008).
Most common symptoms of PYROPOIKILOCYTOSIS, HEREDITARY; HPP
- Anemia
- Hemolytic anemia
- Poikilocytosis
- Elliptocytosis
- Pyropoikilocytosis
More info about PYROPOIKILOCYTOSIS, HEREDITARY; HPP
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 2; EL2
Alternate names
ELLIPTOCYTOSIS 2; EL2 Is also known as elliptocytosis, rhesus-unlinked type
Most common symptoms of ELLIPTOCYTOSIS 2; EL2
- Anemia
- Hemolytic anemia
- Hyperbilirubinemia
- Poikilocytosis
- Elliptocytosis
More info about ELLIPTOCYTOSIS 2; EL2
Search interest in SPTA1
Potential gene panels for SPTA1 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.
SPTA1 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 SPTA1 gene.
More info about this panel United States.
SPTA1 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 SPTA1 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.
SPTA1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SPTA1 gene.
More info about this panel Spain.
SPTA1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SPTA1 gene.
More info about this panel Spain.
Hereditary spherocytosis type 3 (sequence analysis of SPTA1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SPTA1 gene.
More info about this panel Portugal.
Hereditary spherocytosis (NGS panel for 5 genes) Panel
Portugal.
By CGC Genetics Hereditary spherocytosis (NGS panel for 5 genes) that also includes the following genes: SPTA1 SPTB EPB42 ANK1
More info about this panel Portugal.
Hereditary spherocytosis (NGS panel for 5 genes) Panel
Portugal.
By CGC Genetics Hereditary spherocytosis (NGS panel for 5 genes) that also includes the following genes: SPTA1 SPTB EPB42 ANK1
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.
Hereditary Spherocytosis/Elliptocytosis via SPTA1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SPTA1 gene.
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.
Spherocytosis type 3 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SPTA1 gene.
More info about this panel Germany.
Spherocytosis panel Panel
Germany.
By Centogene AG - the Rare Disease Company Spherocytosis panel that also includes the following genes: SPTA1 SPTB EPB42 ANK1
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
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 panel Germany.
New Born testing (CentoICU) Panel
Germany.
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 panel Germany.
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 Germany.
Spherocytosis, Type 3 (SPTA1) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the SPTA1 gene.
More info about this panel Germany.
Elliptocytosis 2 (SPTA1) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the SPTA1 gene.
More info about this panel Germany.
Hereditary Pyropoikilocytosis (HPP, SPTA1, SPTB) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner Hereditary Pyropoikilocytosis (HPP, SPTA1, SPTB) that also includes the following genes: SPTA1 SPTB
More info about this panel Germany.
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 Elliptocytosis Panel
United States.
By Blood Cell Disease Reference Laboratory Yale University School of Medicine Hereditary Elliptocytosis that also includes the following genes: SPTA1 SPTB
More info about this panel United States.
Hereditary Pyropoikilocytosis Panel
United States.
By Blood Cell Disease Reference Laboratory Yale University School of Medicine Hereditary Pyropoikilocytosis that also includes the following genes: SPTA1 SPTB
More info about this panel United States.
Hereditary Spherocytosis Panel
United States.
By Blood Cell Disease Reference Laboratory Yale University School of Medicine Hereditary Spherocytosis that also includes the following genes: SPTA1 SPTB ANK1
More info about this panel United States.
SPHEROCYTOSIS Panel
Spain.
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 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.
Hereditary Spherocytosis NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hereditary Spherocytosis NGS Panel that also includes the following genes: SPTA1 SPTB EPB42 ANK1
More info about this panel United States.
SPTA1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SPTA1 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.
Anemia Panel Panel
Finland.
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 panel Finland.
Elliptocytosis-3 Panel
Spain.
By Bioarray
This panel specifically test the SPTA1 gene.
More info about this panel Spain.
Hereditary spherocytosis type 3 Panel
Spain.
By Bioarray
This panel specifically test the SPTA1 gene.
More info about this panel Spain.
Hereditary Spherocytosis (AD and AR) NGS and Deletion/Duplication Panel Panel
United States.
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 panel United States.
SPTA1 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the SPTA1 gene.
More info about this panel United States.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panel United States.
HEREDITARY SPHEROCYTOSIS Panel
Spain.
By Laboratorio de Genetica Clinica SL HEREDITARY SPHEROCYTOSIS that also includes the following genes: SPTA1 SPTB EPB42 ANK1
More info about this panel Spain.
HEREDITARY SPHEROCYTOSIS: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL HEREDITARY SPHEROCYTOSIS: NGS PANEL that also includes the following genes: SPTA1 SPTB EPB42 ANK1
More info about this panel Spain.
Hereditary Spherocytosis Type 3, Sequencing SPTA1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SPTA1 gene.
More info about this panel Spain.
Hereditary Spherocytosis , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
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 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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