ITGB3 gene related symptoms and diseases
All the information presented here about the ITGB3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ITGB3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Thrombocytopenia | Uncommon - Between 30% and 50% cases |
| Purpura | Uncommon - Between 30% and 50% 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 ITGB3 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.
Rare diseases associated to ITGB3 gene
Here you will find a list of rare diseases related to the ITGB3. 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
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
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
MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
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
Search interest in ITGB3
Potential gene panels for ITGB3 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 United States.
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 United States.
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 United States.
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 Germany.
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 United Kingdom.
ITGB3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ITGB3 gene.
More info about this panel Spain.
Fetal and neonatal alloimmune thrombocytopenia (sequence analysis of ITGB3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ITGB3 gene.
More info about this panel Portugal.
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 Germany.
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 Germany.
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 United States.
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 United States.
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 United States.
Glanzmann's Thrombasthenia via ITGB3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ITGB3 gene.
More info about this panel United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
Thrombocytopenia, neonatal alloimmune Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ITGB3 gene.
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.
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 United Kingdom.
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 Italy.
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 Germany.
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 United States.
Thrombasthenia (Glanzmann and Naegli) Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ITGB3 gene.
More info about this panel Austria.
Glanzmann Thrombasthenia ITGB3 Panel
United Kingdom.
By Regional Molecular Haemostasis Laboratory Birmingham Childrens Hospital NHS Foundation Trust
This panel specifically test the ITGB3 gene.
More info about this panel United Kingdom.
Thrombasthenia (Glanzmann and Naegli) Panel
Slovakia.
By MedGene
This panel specifically test the ITGB3 gene.
More info about this panel Slovakia.
ITGB3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ITGB3 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 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.
Glanzmann thrombasthenia Panel
Spain.
By Bioarray
This panel specifically test the ITGB3 gene.
More info about this panel Spain.
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 Spain.
Glanzmann Thrombasthenia , Sequencing ITGB3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ITGB3 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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