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
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
Search interest in ANO6
Potential gene panels for ANO6 gene
Platelet Disorders Panel
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 panelBleeding Disorders Sequencing Panel with CNV Detection Panel
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 panelPlatelet Function Disorder Sequencing Panel with CNV Detection Panel
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 panelScott Syndrome via ANO6 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ANO6 gene.
More info about this panelPlatelet bleeding disorders NGS panel Panel
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 panelPlatelet bleeding disorders Deletion / Duplication panel Panel
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 panelPlatelet bleeding disorders Comprehensive panel Panel
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 panelANO6 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ANO6 gene.
More info about this panelPlatelet Function Related Disorders , Panel Massive Sequencing (NGS) 17 Genes Panel
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
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