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.

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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

SOURCES: ORPHANET OMIM

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

SOURCES: MESH OMIM


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

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

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

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

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

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

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

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

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

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

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

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

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

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

Spherocytosis type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SPTB gene.

More info about this panel

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

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

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

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

Spherocytosis, Type 2 (SPTB) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the SPTB gene.

More info about this panel

Elliptocytosis 3 (SPTB) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the SPTB gene.

More info about this panel

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

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 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

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

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

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

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

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

SPTB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SPTB 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

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

Elliptocytosis-1 Panel

Spain.

By Bioarray

This panel specifically test the SPTB gene.

More info about this panel

Hereditary spherocytosis type 2 Panel

Spain.

By Bioarray

This panel specifically test the SPTB gene.

More info about this panel

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

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

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

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

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

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

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


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