NBEAL2 gene related symptoms and diseases

All the information presented here about the NBEAL2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NBEAL2 gene

Symptoms // Phenotype % Cases
Splenomegaly Very Common - Between 80% and 100% cases
Menorrhagia Very Common - Between 80% and 100% cases
Thrombocytopenia Very Common - Between 80% and 100% cases
Abnormal thrombocyte morphology Very Common - Between 80% and 100% cases
Ecchymosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NBEAL2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Prolonged bleeding time
  • Decreased platelet glycoprotein IIb-IIIa
  • Purpura
  • Epistaxis
  • Gastrointestinal hemorrhage
  • Abnormal bleeding
  • Bruising susceptibility
  • Not very common - Between 30% and 50% cases

  • Intracranial hemorrhage

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NBEAL2 gene

Here you will find a list of rare diseases related to the NBEAL2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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

SOURCES: OMIM ORPHANET

GRAY PLATELET SYNDROME; GPS


Alternate names

GRAY PLATELET SYNDROME; GPS Is also known as bleeding disorder, platelet-type, 4, bdplt4, platelet alpha-granule deficiency

Description

The gray platelet syndrome (GPS) is a rare inherited disorder characterized by mild to moderate bleeding tendency, moderate thrombocytopenia, and a marked decrease or absence of platelet alpha-granules and of the proteins contained in alpha-granules. The platelets are enlarged, but not giant, and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. Many patients with gray platelet syndrome develop a stable myelofibrosis (summary by Nurden and Nurden, 2007).Cases suggesting autosomal dominant and autosomal recessive inheritance have been described, indicating that GPS is probably a genetically heterogeneous disorder with more than one molecular cause.

Most common symptoms of GRAY PLATELET SYNDROME; GPS

  • Anemia
  • Splenomegaly
  • Thrombocytopenia
  • Skin rash
  • Bruising susceptibility


More info about GRAY PLATELET SYNDROME; GPS

SOURCES: OMIM MESH


Potential gene panels for NBEAL2 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

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

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

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

Gray Platelet Syndrome via NBEAL2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NBEAL2 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

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

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

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

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

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

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

NBEAL2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NBEAL2 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


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