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.

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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

SOURCES: OMIM MESH

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

SOURCES: OMIM 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 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

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

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

GPIbß sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the GP1BB gene.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Bernard-Soulier syndrome B Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GP1BB gene.

More info about this panel

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

Bernard-Soulier syndrome B Panel

Slovakia.

By MedGene

This panel specifically test the GP1BB gene.

More info about this panel

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

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

GP1BB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GP1BB 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

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

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

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

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

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

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

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


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