GFI1B gene related symptoms and diseases
All the information presented here about the GFI1B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GFI1B gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Prolonged bleeding time | Common - Between 50% and 80% cases |
| Thrombocytopenia | Common - Between 50% and 80% cases |
| Bruising susceptibility | Common - Between 50% and 80% cases |
| Abnormal bleeding | Common - Between 50% and 80% cases |
| Epistaxis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with GFI1B gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Anemia
- Myelodysplasia
- Abnormal thrombocyte morphology
- Ecchymosis
- Menorrhagia
- Gastrointestinal hemorrhage
- Purpura
Rarely - Less than 30% cases
- Reduced prothrombin consumption
And 21 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GFI1B gene
Here you will find a list of rare diseases related to the GFI1B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17
Alternate names
BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17 Is also known as thrombasthenia-thrombocytopenia, hereditary
Description
Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).For a discussion of genetic heterogeneity of platelet-type bleeding disorder, see BDPLT1 (OMIM ).
Most common symptoms of BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17
- Anemia
- Thrombocytopenia
- Hypospadias
- Patent ductus arteriosus
- Bruising susceptibility
More info about BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17
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
ALPHA DELTA GRANULE DEFICIENCY
Alternate names
ALPHA DELTA GRANULE DEFICIENCY Is also known as combined alpha-delta platelet storage pool deficiency, alpha dense granule deficiency
Description
Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored.
Most common symptoms of ALPHA DELTA GRANULE DEFICIENCY
- Anemia
- Thrombocytopenia
- Bruising susceptibility
- Abnormal bleeding
- Epistaxis
More info about ALPHA DELTA GRANULE DEFICIENCY
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 GFI1B
Potential gene panels for GFI1B 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.
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.
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 via GFI1B Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GFI1B gene.
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.
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.
Bleeding disorder, platelet-type 17 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GFI1B gene.
More info about this panel Germany.
GFI1B Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GFI1B 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.
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.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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