ANO6 gene related symptoms and diseases

All the information presented here about the ANO6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ANO6 gene

Symptoms // Phenotype % Cases
Abnormal bleeding Very Common - Between 80% and 100% cases
Epistaxis Very Common - Between 80% and 100% cases
Systemic lupus erythematosus Very Common - Between 80% and 100% cases
Intramuscular hematoma Very Common - Between 80% and 100% cases
Hyphema Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ANO6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Factor X activation deficiency
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Rare diseases associated to ANO6 gene

Here you will find a list of rare diseases related to the ANO6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SCOTT SYNDROME


Alternate names

SCOTT SYNDROME Is also known as bleeding abnormality due to deficiency of platelet binding of factor x, prothrombin consumption inhibitor, familial, bleeding disorder, platelet-type, 7, bdplt7, prothrombin consumption deficiency, prothrombin conversion defect, familial

Description

Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.

Most common symptoms of SCOTT SYNDROME

  • Abnormal bleeding
  • Epistaxis
  • Systemic lupus erythematosus
  • Intramuscular hematoma
  • Hyphema


More info about SCOTT SYNDROME

SOURCES: OMIM ORPHANET MESH


Potential gene panels for ANO6 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

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

Scott Syndrome via ANO6 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ANO6 gene.

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

ANO6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ANO6 gene.

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


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