SPTB gene related symptoms and diseases
All the information presented here about the SPTB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SPTB gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Anemia | Very Common - Between 80% and 100% cases |
| Jaundice | Very Common - Between 80% and 100% cases |
| Cholelithiasis | Very Common - Between 80% and 100% cases |
| Hemolytic anemia | Common - Between 50% and 80% cases |
| Elliptocytosis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with SPTB gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Spherocytosis
- Hyperbilirubinemia
Not very common - Between 30% and 50% cases
- Reticulocytosis
- Fatigue
- Splenomegaly
Rarely - Less than 30% cases
- Lymphadenopathy
- Prolonged neonatal jaundice
- Hydrops fetalis
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SPTB gene
Here you will find a list of rare diseases related to the SPTB. 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 2; SPH2
Alternate names
SPHEROCYTOSIS, TYPE 2; SPH2 Is also known as hs2, spherocytosis, hereditary, 2
Description
Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Common complications include cholelithiasis, hemolytic episodes, and aplastic crises (review by Perrotta et al., 2008).For a general description and a discussion of genetic heterogeneity of hereditary spherocytosis, see {182900}.
Most common symptoms of SPHEROCYTOSIS, TYPE 2; SPH2
- Anemia
- Splenomegaly
- Jaundice
- Hemolytic anemia
- Hyperbilirubinemia
More info about SPHEROCYTOSIS, TYPE 2; SPH2
SOURCES: OMIM
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 3; EL3
Description
Hereditary elliptocytosis-3 is a hemolytic disorder characterized by the presence of elliptical erythrocytes and resulting in some cases in hemolytic anemia (summary by Qualtieri et al., 1997).For a general description and a discussion of genetic heterogeneity of hereditary elliptocytosis (HE), see EL1 (OMIM ).
Most common symptoms of ELLIPTOCYTOSIS 3; EL3
- Anemia
- Edema
- Jaundice
- Hepatosplenomegaly
- Lymphadenopathy
More info about ELLIPTOCYTOSIS 3; EL3
Search interest in SPTB
Potential gene panels for SPTB 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.
SPTB 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 SPTB gene.
More info about this panel United States.
SPTB 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 SPTB 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.
SPTB. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SPTB gene.
More info about this panel Spain.
SPTB. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SPTB gene.
More info about this panel Spain.
Hereditary spherocytosis type 2 (sequence analysis of SPTB gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SPTB 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 SPTB Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SPTB 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.
Anemia, neonatal hemolytic, fatal and near-fatal Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SPTB gene.
More info about this panel Germany.
Spherocytosis type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SPTB 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 2 (SPTB) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the SPTB gene.
More info about this panel Germany.
Elliptocytosis 3 (SPTB) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the SPTB 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.
SPTB Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SPTB 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-1 Panel
Spain.
By Bioarray
This panel specifically test the SPTB gene.
More info about this panel Spain.
Hereditary spherocytosis type 2 Panel
Spain.
By Bioarray
This panel specifically test the SPTB 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.
Hereditary Spherocytosis autosomal dominant only NGS and Deletion/Duplication panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Hereditary Spherocytosis autosomal dominant only NGS and Deletion/Duplication panel that also includes the following genes: SPTB ANK1
More info about this panel United States.
SPTB 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 SPTB gene.
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 2, Sequencing SPTB Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SPTB 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.
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