GP1BA gene related symptoms and diseases
All the information presented here about the GP1BA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GP1BA gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Thrombocytopenia | Common - Between 50% and 80% cases |
| Petechiae | Common - Between 50% and 80% cases |
| Increased mean platelet volume | Uncommon - Between 30% and 50% cases |
| Bruising susceptibility | Uncommon - Between 30% and 50% cases |
| Prolonged bleeding time | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GP1BA gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abnormal bleeding
- Epistaxis
- Menorrhagia
- Purpura
Rarely - Less than 30% cases
- Decreased platelet glycoprotein IIb-IIIa
- Peripheral neuropathy
- Visual loss
- Sleep apnea
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GP1BA gene
Here you will find a list of rare diseases related to the GP1BA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PSEUDO-VON WILLEBRAND DISEASE
Alternate names
PSEUDO-VON WILLEBRAND DISEASE Is also known as von willebrand disease, platelet-type, bleeding disorder, platelet-type, 3, pt-vwd, pseudo-von willebrand disease type 2b, bdplt3, platelet type-von willebrand disease
Description
Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.
Most common symptoms of PSEUDO-VON WILLEBRAND DISEASE
- Thrombocytopenia
- Prolonged bleeding time
- Intermittent thrombocytopenia
More info about PSEUDO-VON WILLEBRAND DISEASE
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2
Most common symptoms of BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2
- Splenomegaly
- Thrombocytopenia
- Bruising susceptibility
- Hemolytic anemia
- Abnormal bleeding
More info about BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2
SOURCES: OMIM
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
BERNARD-SOULIER SYNDROME
Alternate names
BERNARD-SOULIER SYNDROME Is also known as glycoprotein ib, platelet, deficiency of, von willebrand factor receptor deficiency, bdplt1, giant platelet syndrome, hemorrhagiparous thrombocytic dystrophy, bleeding disorder, platelet-type, 1, platelet glycoprotein ib deficiency
Description
Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.
Most common symptoms of BERNARD-SOULIER SYNDROME
- Thrombocytopenia
- Arthrogryposis multiplex congenita
- Bruising susceptibility
- Abnormal bleeding
- Epistaxis
More info about BERNARD-SOULIER SYNDROME
NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO
Alternate names
NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO Is also known as naion, susceptibility to, optic neuropathy, anterior ischemic, susceptibility to
Most common symptoms of NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO
- Peripheral neuropathy
- Visual loss
- Apnea
- Hypercholesterolemia
- Sleep apnea
More info about NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO
SOURCES: OMIM
Search interest in GP1BA
Potential gene panels for GP1BA 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.
Bernard Soulier Syndrome Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Bernard Soulier Syndrome that also includes the following genes: GP1BA GP1BB GP9
More info about this panel Germany.
VWD Platelet Type (GP1BA) 4 Mutations Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the GP1BA gene.
More info about this panel United States.
Bernard-Soulier syndrome Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Bernard-Soulier syndrome that also includes the following genes: GP1BA GP1BB GP9
More info about this panel United Kingdom.
GP1BA. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GP1BA gene.
More info about this panel Spain.
Bernard-Soulier syndrome (sequence analysis of GP1BA gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GP1BA gene.
More info about this panel Portugal.
Bernard-Soulier syndrome, type A Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the GP1BA gene.
More info about this panel Germany.
Pseudo von Willebrand disease Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the GP1BA gene.
More info about this panel Germany.
BERNARD-SOULIER SYNDROME Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders BERNARD-SOULIER SYNDROME that also includes the following genes: GP1BA GP1BB GP9
More info about this panel Germany.
Thrombocytopenia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Thrombocytopenia Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL CYCS ANKRD26 GATA1 GP1BA GP1BB GP9
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.
Bernard-Soulier Syndrome via GP1BA Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GP1BA 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.
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.
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.
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.
Bernard-Soulier Panel Panel
United States.
By FirmaLab Bernard-Soulier Panel that also includes the following genes: GP1BA GP1BB GP9
More info about this panel United States.
Bernard Soulier syndrome type A1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GP1BA gene.
More info about this panel Germany.
Bernard Soulier syndrome type A2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GP1BA gene.
More info about this panel Germany.
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.
von Willebrand disease platelet type Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GP1BA gene.
More info about this panel Germany.
Nonarteritic anterior ischemic optic neuropathy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GP1BA gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
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.
Bernard Soulier Syndrome Panel
United Kingdom.
By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust Bernard Soulier Syndrome that also includes the following genes: GP1BA GP1BB GP9
More info about this panel United Kingdom.
Bernard-Soulier syndrome A Panel
Italy.
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the GP1BA gene.
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.
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 Estonia.
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.
VWD Platelet-Type Sequence Analysis Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti
This panel specifically test the GP1BA gene.
More info about this panel United States.
Bernard-Soulier Syndrome Sequence Analysis Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti Bernard-Soulier Syndrome Sequence Analysis that also includes the following genes: GP1BA GP1BB GP9
More info about this panel United States.
aCGH Deletion/Duplication Analysis Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB
More info about this panel United States.
Bernard-Soulier syndrome A1 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the GP1BA gene.
More info about this panel Austria.
Bernard-Soulier syndrome A2 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the GP1BA gene.
More info about this panel Austria.
von Willebrand disease, platelet-type Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the GP1BA gene.
More info about this panel Austria.
Bernard-Soulier Syndrome Type A Panel
United Kingdom.
By Regional Molecular Haemostasis Laboratory Birmingham Childrens Hospital NHS Foundation Trust
This panel specifically test the GP1BA gene.
More info about this panel United Kingdom.
Pseudo-von Willebrand Disease Panel
United Kingdom.
By Regional Molecular Haemostasis Laboratory Birmingham Childrens Hospital NHS Foundation Trust
This panel specifically test the GP1BA gene.
More info about this panel United Kingdom.
Bernard-Soulier syndrome A1 Panel
Slovakia.
By MedGene
This panel specifically test the GP1BA gene.
More info about this panel Slovakia.
Bernard-Soulier syndrome A2 Panel
Slovakia.
By MedGene
This panel specifically test the GP1BA gene.
More info about this panel Slovakia.
von Willebrand disease, platelet-type Panel
Slovakia.
By MedGene
This panel specifically test the GP1BA gene.
More info about this panel Slovakia.
Thrombocytopenia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Thrombocytopenia NGS Panel that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL GATA1 GP1BA GP1BB GP9 MPL MYH9
More info about this panel United States.
Coagulation NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Coagulation NGS Panel that also includes the following genes: VWF F8 F9 GP1BA
More info about this panel United States.
GP1BA Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GP1BA 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.
Genetic Study of Hereditary Thrombophilia (11 genes) Panel
Portugal.
By HeartGenetics, Genetics and Biotechnology, SA Genetic Study of Hereditary Thrombophilia (11 genes) that also includes the following genes: F12 F13A1 F2 F5 GP1BA MTHFR SERPINC1 SERPINE1 PROCR PROS1
More info about this panel Portugal.
BERNARD-SOULIER SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL BERNARD-SOULIER SYNDROME that also includes the following genes: GP1BA GP1BB GP9
More info about this panel Spain.
Bernard-Soulier Syndrome Type A2 , Sequencing GP1BA Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GP1BA gene.
More info about this panel Spain.
Bernard-Soulier Syndrome Type A1 , Sequencing GP1BA Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GP1BA 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.
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.
Bernard-Soulier Syndrome , Panel Massive Sequencing (NGS) GP9, GP1BA, GP1BB Genes Panel
Spain.
By Reference Laboratory Genetics Bernard-Soulier Syndrome , Panel Massive Sequencing (NGS) GP9, GP1BA, GP1BB Genes that also includes the following genes: 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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