ACTN1 gene related symptoms and diseases
All the information presented here about the ACTN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ACTN1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Thrombocytopenia | Uncommon - Between 30% and 50% cases |
| Abnormal bleeding | Uncommon - Between 30% and 50% cases |
| Epistaxis | Uncommon - Between 30% and 50% cases |
| Anisocytosis | Uncommon - Between 30% and 50% cases |
| Increased mean platelet volume | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ACTN1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Macrothrombocytopenia
Rare diseases associated to ACTN1 gene
Here you will find a list of rare diseases related to the ACTN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15
Alternate names
BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15 Is also known as macrothrombocytopenia, autosomal dominant, actn1-related
Description
Platelet-type bleeding disorder-15 is an autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities (summary by Kunishima et al., 2013).
Most common symptoms of BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15
- Thrombocytopenia
- Abnormal bleeding
- Epistaxis
- Anisocytosis
- Increased mean platelet volume
More info about BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15
SOURCES: OMIM
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 ACTN1
Potential gene panels for ACTN1 gene
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.
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.
Bleeding disorder, platelet-type 15 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ACTN1 gene.
More info about this panel Germany.
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.
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 United States.
ACTN1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACTN1 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.
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