GP1BB gene related symptoms and diseases
All the information presented here about the GP1BB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GP1BB gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Thrombocytopenia | Common - Between 50% and 80% cases |
| Purpura | Common - Between 50% and 80% cases |
| Obesity | Uncommon - Between 30% and 50% cases |
| Petechiae | Uncommon - Between 30% and 50% cases |
| Abnormal thrombocyte morphology | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GP1BB gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Acne
Rarely - Less than 30% cases
- Hand polydactyly
- Schizophrenia
- Laryngomalacia
- Nasal speech
- Polycystic kidney dysplasia
- Cholelithiasis
- Overfolded helix
And 162 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GP1BB gene
Here you will find a list of rare diseases related to the GP1BB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
POLYCYSTIC OVARY SYNDROME 1; PCOS1
Alternate names
POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos
Description
a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance
Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1
- Neoplasm
- Abnormality of metabolism/homeostasis
- Obesity
- Diabetes mellitus
- Apnea
More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1
22Q11.2 DELETION SYNDROME
Alternate names
22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11, digeorge sequence, sedlackova syndrome, takao syndrome, velocardiofacial syndrome, shprintzen syndrome, conotruncal anomaly face syndrome, digeorge syndrome, catch 22, cayler cardiofacial syndrome, microdeletion 22q11.2, 22q11ds
Description
22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
Most common symptoms of 22Q11.2 DELETION SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about 22Q11.2 DELETION SYNDROME
SOURCES: 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
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
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 GP1BB
Potential gene panels for GP1BB gene
Bernard Soulier syndrome Type B Panel
United States.
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the GP1BB gene.
More info about this panel United States.
GP1BB 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 GP1BB gene.
More info about this panel United States.
GP1BB 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 GP1BB gene.
More info about this panel United States.
GPIbß sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the GP1BB gene.
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.
GPIbß deletion/duplication analysis Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the GP1BB gene.
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.
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.
GP1BB. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GP1BB gene.
More info about this panel Spain.
Bernard-Soulier syndrome (sequence analysis of GP1BB gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GP1BB gene.
More info about this panel Portugal.
Bernard-Soulier Syndrome Type B Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the GP1BB 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 GP1BB Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GP1BB 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 B Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GP1BB 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.
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.
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.
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 B Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the GP1BB gene.
More info about this panel Austria.
Bernard-Soulier Syndrome Type B Panel
United Kingdom.
By Regional Molecular Haemostasis Laboratory Birmingham Childrens Hospital NHS Foundation Trust
This panel specifically test the GP1BB gene.
More info about this panel United Kingdom.
Bernard-Soulier syndrome B Panel
Slovakia.
By MedGene
This panel specifically test the GP1BB gene.
More info about this panel Slovakia.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
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.
GP1BB Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GP1BB 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.
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 B , Sequencing GP1BB Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GP1BB 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.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
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