ITGA2B gene related symptoms and diseases

All the information presented here about the ITGA2B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ITGA2B gene

Symptoms // Phenotype % Cases
Thrombocytopenia Common - Between 50% and 80% cases
Purpura Common - Between 50% and 80% cases
Abnormal bleeding Uncommon - Between 30% and 50% cases
Petechiae Uncommon - Between 30% and 50% cases
Prolonged bleeding time Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ITGA2B gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Impaired platelet aggregation
  • Rarely - Less than 30% cases

  • Anemia
  • Intracranial hemorrhage
  • Decreased platelet glycoprotein IIb-IIIa
  • Abnormality of the menstrual cycle
  • Abnormal thrombocyte morphology
  • Ecchymosis
  • Gingival bleeding

And 12 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ITGA2B gene

Here you will find a list of rare diseases related to the ITGA2B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16


Alternate names

BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16 Is also known as thrombasthenia of glanzmann and naegeli, autosomal dominant, glanzmann thrombasthenia, autosomal dominant

Description

BDPLT16 is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011).

Most common symptoms of BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16

  • Anemia
  • Thrombocytopenia
  • Abnormal bleeding
  • Purpura
  • Petechiae


More info about BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16

SOURCES: OMIM MESH

GLANZMANN THROMBASTHENIA


Description

Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.


More info about GLANZMANN THROMBASTHENIA

SOURCES: ORPHANET

GRAY PLATELET SYNDROME


Alternate names

GRAY PLATELET SYNDROME Is also known as thrombasthenia of glanzmann and naegeli, alpha storage pool deficiency, glycoprotein complex iib-iiia, deficiency of, gp iib-iiia complex, deficiency of, platelet alpha-granule deficiency, gps, bdplt2, platelet glycoprotein iib-iiia deficiency, bleeding disorder,

Description

Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.

Most common symptoms of GRAY PLATELET SYNDROME

  • Splenomegaly
  • Thrombocytopenia
  • Bruising susceptibility
  • Abnormal bleeding
  • Gastrointestinal hemorrhage


More info about GRAY PLATELET SYNDROME

SOURCES: OMIM ORPHANET

FETAL AND NEONATAL ALLOIMMUNE THROMBOCYTOPENIA


Alternate names

FETAL AND NEONATAL ALLOIMMUNE THROMBOCYTOPENIA Is also known as nait

Description

Foetal/neonatal alloimmune thrombocytopaenia (NAIT) results from maternal alloimmunisation against foetal platelet antigens inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopaenia in otherwise healthy newborns.

Most common symptoms of FETAL AND NEONATAL ALLOIMMUNE THROMBOCYTOPENIA

  • Thrombocytopenia
  • Purpura
  • Petechiae
  • Neonatal alloimmune thrombocytopenia


More info about FETAL AND NEONATAL ALLOIMMUNE THROMBOCYTOPENIA

SOURCES: ORPHANET

AUTOSOMAL DOMINANT MACROTHROMBOCYTOPENIA


Description

This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.


More info about AUTOSOMAL DOMINANT MACROTHROMBOCYTOPENIA

SOURCES: ORPHANET


Potential gene panels for ITGA2B gene

Platelet Disorders Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Platelet Disorders that also includes the following genes: RUNX1 STIM1 TBXA2R TBXAS1 USF1 VPS33B VWF WAS GP6 HPS3

More info about this panel

Thrombocytopenia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Sequencing Panel that also includes the following genes: CFB SRC TERC TERT THBD VWF WAS C3 ADAMTS13 ABCG5

More info about this panel

Thrombocytopenia Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Deletion/Duplication Panel that also includes the following genes: CFB RUNX1 SRC TERC TERT THBD VWF WAS C3 ADAMTS13

More info about this panel

Glanzmann thrombasthenia Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Glanzmann thrombasthenia that also includes the following genes: ITGA2B ITGB3

More info about this panel

Glanzmann thrombasthenia Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Glanzmann thrombasthenia that also includes the following genes: ITGA2B ITGB3

More info about this panel

ITGA2B. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ITGA2B gene.

More info about this panel

Glanzmann thrombasthenia (sequence analysis of ITGA2B gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ITGA2B gene.

More info about this panel

Glanzmann's thrombasthenia Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Glanzmann's thrombasthenia that also includes the following genes: ITGA2B ITGB3

More info about this panel

Alloimmune thrombocytopenia Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Alloimmune thrombocytopenia that also includes the following genes: ITGA2B ITGB3

More info about this panel

Glanzmann's Thrombasthenia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Glanzmann's Thrombasthenia Sequencing Panel with CNV Detection that also includes the following genes: ITGA2B ITGB3

More info about this panel

Bleeding Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3

More info about this panel

Platelet Function Disorder Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Platelet Function Disorder Sequencing Panel with CNV Detection that also includes the following genes: TBXA2R TBXAS1 GP6 HPS3 HPS4 CD36 HPS5 DTNBP1 P2RY12 HPS6

More info about this panel

Glanzmann's Thrombasthenia via ITGA2B Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ITGA2B gene.

More info about this panel

Thrombocytopenia Sequencing Panel with CNV Detection - Expanded Panel

United States.

By PreventionGenetics PreventionGenetics Thrombocytopenia Sequencing Panel with CNV Detection - Expanded that also includes the following genes: RUNX1 WAS ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1 CD36 MASTL CYCS

More info about this panel

Thrombocytopenia NGS Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia NGS Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

Platelet bleeding disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Platelet bleeding disorders NGS panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1

More info about this panel

Thrombocytopenia Deletion / Duplication Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia Deletion / Duplication Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

Platelet bleeding disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Platelet bleeding disorders Deletion / Duplication panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1

More info about this panel

Thrombocytopenia Comprehensive Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia Comprehensive Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

Platelet bleeding disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Platelet bleeding disorders Comprehensive panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1

More info about this panel

Thrombocytopenia panel Panel

Germany.

By Centogene AG - the Rare Disease Company Thrombocytopenia panel that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL GATA1 GP1BA GP1BB GP9 ITGA2B ITGB3

More info about this panel

Thrombocytopenia, neonatal alloimmune Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ITGA2B gene.

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

Glanzmann Thrombasthenia (ITGA2B & ITGB3) Panel

United Kingdom.

By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust Glanzmann Thrombasthenia (ITGA2B & ITGB3) that also includes the following genes: ITGA2B ITGB3

More info about this panel

Glanzmann thrombasthenia Panel

Italy.

By Medical Genetics Laboratory Bambino Gesù Children's Hospital Glanzmann thrombasthenia that also includes the following genes: ITGA2B ITGB3

More info about this panel

Thrombocytopenia Panel Panel

Germany.

By CeGaT GmbH Thrombocytopenia Panel that also includes the following genes: THBD ADAMTS13 MASTL GATA1 GP1BA GP1BB GP9 AP3B1 ITGA2B ITGB3

More info about this panel

Thrombocytopenia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Thrombocytopenia that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL CYCS ANKRD26 GATA1 GP1BA GP1BB GP9

More info about this panel

Platelet Antigen Genotyping Panel Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti Platelet Antigen Genotyping Panel that also includes the following genes: CD109 GP1BA ITGA2 ITGA2B ITGB3

More info about this panel

Glanzmann Thrombasthenia ITGA2B Panel

United Kingdom.

By Regional Molecular Haemostasis Laboratory Birmingham Childrens Hospital NHS Foundation Trust

This panel specifically test the ITGA2B gene.

More info about this panel

ITGA2B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ITGA2B gene.

More info about this panel

Thrombocytopenia Panel Panel

Finland.

By Blueprint Genetics Thrombocytopenia Panel that also includes the following genes: RUNX1 SRC THBD WAS WIPF1 ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1

More info about this panel

Platelet Function Disorder Panel Panel

Finland.

By Blueprint Genetics Platelet Function Disorder Panel that also includes the following genes: RUNX1 TBXA2R THPO WIPF1 HPS3 HPS4 HPS5 DTNBP1 P2RY12 HPS6

More info about this panel

Bleeding Disorder/Coagulopathy Panel Panel

Finland.

By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3

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

Glanzmann thrombasthenia Panel

Spain.

By Bioarray

This panel specifically test the ITGA2B gene.

More info about this panel

GLANZMANN THROMBASTHENIA Panel

Spain.

By Laboratorio de Genetica Clinica SL GLANZMANN THROMBASTHENIA that also includes the following genes: ITGA2B ITGB3

More info about this panel

Glanzmann Thrombasthenia , Sequencing ITGA2B Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ITGA2B gene.

More info about this panel

Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes Panel

Spain.

By Reference Laboratory Genetics Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes that also includes the following genes: VWF ADAMTS13 MCFD2 F10 F11 F12 F13A1 F2 F5 F7

More info about this panel

Thrombasthenia of Glanzmann , Panel Massive Sequencing (NGS) ITGA2B,ITGB3 Genes Panel

Spain.

By Reference Laboratory Genetics Thrombasthenia of Glanzmann , Panel Massive Sequencing (NGS) ITGA2B,ITGB3 Genes that also includes the following genes: ITGA2B ITGB3

More info about this panel

Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes Panel

Spain.

By Reference Laboratory Genetics Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: RUNX1 SRC WAS ADAMTS13 CYCS ANKRD26 GATA1 GP1BA GP1BB GP9

More info about this panel

Platelet Function Related Disorders , Panel Massive Sequencing (NGS) 17 Genes Panel

Spain.

By Reference Laboratory Genetics Platelet Function Related Disorders , Panel Massive Sequencing (NGS) 17 Genes that also includes the following genes: TBXA2R GP6 HPS3 HPS4 HPS5 DTNBP1 P2RY12 HPS6 BLOC1S3 ANO6

More info about this panel


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