SCN10A gene related symptoms and diseases
All the information presented here about the SCN10A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SCN10A gene
Symptoms // Phenotype | % Cases |
---|---|
Pain | Common - Between 50% and 80% cases |
Seizures | Uncommon - Between 30% and 50% cases |
Atrioventricular block | Rare - less than 30% cases |
Bradycardia | Rare - less than 30% cases |
Atrial arrhythmia | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with SCN10A gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Abnormal autonomic nervous system physiology
- Peripheral neuropathy
- Prolonged QT interval
- Constipation
- Flushing
- Ventricular fibrillation
- Ventricular arrhythmia
- Ventricular tachycardia
And 57 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SCN10A gene
Here you will find a list of rare diseases related to the SCN10A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CHANNELOPATHY-ASSOCIATED CONGENITAL INSENSITIVITY TO PAIN
Alternate names
CHANNELOPATHY-ASSOCIATED CONGENITAL INSENSITIVITY TO PAIN Is also known as channelopathy-associated cip
More info about CHANNELOPATHY-ASSOCIATED CONGENITAL INSENSITIVITY TO PAIN
SOURCES: ORPHANET
BRUGADA SYNDROME
Alternate names
BRUGADA SYNDROME Is also known as dream disease, idiopathic ventricular fibrillation, brugada type, sudden unexplained nocturnal death syndrome, bangungut, pokkuri death syndrome, sunds
Description
Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities.
Most common symptoms of BRUGADA SYNDROME
- Seizures
- Pain
- Arrhythmia
- Vertigo
- Tachycardia
More info about BRUGADA SYNDROME
ROMANO-WARD SYNDROME
Alternate names
ROMANO-WARD SYNDROME Is also known as romano-ward long qt syndrome
Description
Romano-Ward syndrome (RWS) is an autosomal dominant variant of the long QT syndrome (LQTS, see this term) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).
Most common symptoms of ROMANO-WARD SYNDROME
- Seizures
- Arrhythmia
- Sudden cardiac death
- Syncope
- Bradycardia
More info about ROMANO-WARD SYNDROME
PRIMARY ERYTHERMALGIA
Alternate names
PRIMARY ERYTHERMALGIA Is also known as erythromelalgia, primary, erythromelalgia, familial
Description
Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.
Most common symptoms of PRIMARY ERYTHERMALGIA
- Pain
- Peripheral neuropathy
- Diarrhea
- Constipation
- Hyperhidrosis
More info about PRIMARY ERYTHERMALGIA
EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2
Description
Familial episodic pain syndrome-2 is an autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities (summary by Faber et al., 2012).For a discussion of genetic heterogeneity of familial episodic pain syndrome, see {615040}.
Most common symptoms of EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2
- Pain
- Diabetes mellitus
- Type I diabetes mellitus
- Hyperalgesia
- Allodynia
More info about EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2
PAROXYSMAL EXTREME PAIN DISORDER
Alternate names
PAROXYSMAL EXTREME PAIN DISORDER Is also known as rectal pain, familial, pexpd, pepd, pain, submandibular, ocular, and rectal, with flushing, familial rectal pain
Description
Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.
Most common symptoms of PAROXYSMAL EXTREME PAIN DISORDER
- Seizures
- Pain
- Motor delay
- Peripheral neuropathy
- Constipation
More info about PAROXYSMAL EXTREME PAIN DISORDER
SODIUM CHANNELOPATHY-RELATED SMALL FIBER NEUROPATHY
Description
Sodium channelopathy-related small fiber neuropathy is a rare, genetic, peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extermities and with a burning quality) associated with autonomic dysfunction (e.g. orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing, and reduction in intraepidermal nerve fiber density. Large fiber functions (i.e. normal strength, tendon reflexes, and vibration sense) and nerve conduction studies are typically normal.
More info about SODIUM CHANNELOPATHY-RELATED SMALL FIBER NEUROPATHY
SOURCES: ORPHANET
Search interest in SCN10A
Potential gene panels for SCN10A gene
Cardiac Arrhythmia Gene Panel Panel
By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital Cardiac Arrhythmia Gene Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN5A TNNI3 TNNT2 TPM1 CACNA1C CACNB2 CASQ2
More info about this panelSCN10A Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the SCN10A gene.
More info about this panelCardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TNNT2 TRDN CACNA1C
More info about this panelSCN10A. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SCN10A gene.
More info about this panelFamilial episodic pain syndrome, 2 (sequencing analysis of SCN10A gene) Panel
By CGC Genetics
This panel specifically test the SCN10A gene.
More info about this panelFamilial episodic pain syndrome, 2 (sequencing analysis of SCN10A gene) Panel
By CGC Genetics
This panel specifically test the SCN10A gene.
More info about this panelComprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5
More info about this panelEpisodic Pain Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Episodic Pain Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SCN10A SCN11A SCN9A
More info about this panelFamilial Episodic Pain Type 2 Syndrome via SCN10A Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SCN10A gene.
More info about this panelComprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TGFB3 TNNI3 TRDN
More info about this panelBrugada syndrome and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Brugada syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A SEMA3A CACNA1C CACNA2D1 CACNB2 CAV3 SLMAP
More info about this panelBrugada syndrome and related disorders NGS panel Panel
By Connective Tissue Gene Tests Brugada syndrome and related disorders NGS panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A SEMA3A CACNA1C CACNA2D1 CACNB2 CAV3 SLMAP
More info about this panelCardiac channelopathy Deletion/ Duplication panel Panel
By Connective Tissue Gene Tests Cardiac channelopathy Deletion/ Duplication panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SEMA3A SNTA1 TRDN CACNA1C
More info about this panelBrugada syndrome and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Brugada syndrome and related disorders Comprehensive panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A SEMA3A CACNA1C CACNA2D1 CACNB2 CAV3 SLMAP
More info about this panelCardiac channelopathy Comprehensive panel Panel
By Connective Tissue Gene Tests Cardiac channelopathy Comprehensive panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SEMA3A SNTA1 TRDN CACNA1C
More info about this panelCardiac channelopathy NGS panel Panel
By Connective Tissue Gene Tests Cardiac channelopathy NGS panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SEMA3A SNTA1 TRDN CACNA1C
More info about this panelNeuropathy Panel
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panelSCN10A Panel
By MGZ Medical Genetics Center
This panel specifically test the SCN10A gene.
More info about this panelEpisodic pain syndrome type 2, familial Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SCN10A gene.
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelNeuropathic Pain Syndromes Panel Panel
By CeGaT GmbH Neuropathic Pain Syndromes Panel that also includes the following genes: SCN10A SCN11A SCN9A TRPA1 NTRK1
More info about this panelBrugada Syndrome Panel Panel
By CeGaT GmbH Brugada Syndrome Panel that also includes the following genes: SCN10A SCN1B SCN5A CACNA1C CACNA2D1 CACNB2 HCN4 TRPM4 SCN3B GPD1L
More info about this panelCharcot-Marie-Tooth and Sensory Neuropathies Panel Panel
By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2
More info about this panelAuricular Fibrillation Panel Panel
By Health in Code Auricular Fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A TBX5 TNNI3 TNNT2 TPM1
More info about this panelJ Wave Syndrome Panel Panel
By Health in Code J Wave Syndrome Panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A CACNA1C CACNA1D CACNA2D1 CACNB2 SLMAP HCN4
More info about this panelInherited Cardiovascular Diseases and Sudden Death Panel Panel
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panelBrugada Syndrome Panel Panel
By Health in Code Brugada Syndrome Panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A CACNA1C CACNA1D CACNA2D1 CACNB2 SLMAP HCN4
More info about this panelVentricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel
By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4
More info about this panelCardiac Conduction Disease Panel Panel
By Health in Code Cardiac Conduction Disease Panel that also includes the following genes: SCN10A SCN1B SCN4B SCN5A TBX5 TTR CACNA1D ACTC1 LDB3 HCN4
More info about this panelVentricular Arrythmia & Sudden Death Panel without Structural Heart Disease Panel
By Health in Code Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TNNC1 TNNI3 TNNT2
More info about this panelVentricular arrhythmia and sudden death without structural heart disease Panel
By Health in Code Ventricular arrhythmia and sudden death without structural heart disease that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TBX5 TNNC1 TNNI3
More info about this panelCardiovascular Diseases_General Panel Panel
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panelCardiac conduction disease Panel Panel
By Health in Code Cardiac conduction disease Panel that also includes the following genes: SCN10A SCN1B SCN4B SCN5A TBX5 TTR CACNA1D ACTC1 IRX3 KCNK17
More info about this panelAtrial fibrillation Panel Panel
By Health in Code Atrial fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A TBX5 TNNI3 TNNT2 TPM1
More info about this panelBrugada syndrome / J wave syndrome Panel
By Health in Code Brugada syndrome / J wave syndrome that also includes the following genes: SCN10A SCN1B SCN2B SCN5A CACNA1C CACNA1D CACNA2D1 CACNB2 SLMAP HCN4
More info about this panelArrhythmia General Panel Panel
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panelEpilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panelSCN10A Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SCN10A gene.
More info about this panelComprehensive Epilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panelAtrial Fibrillation Panel Panel
By Blueprint Genetics Atrial Fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN5A TBX5 CACNB2 LDB3 HCN4 SCN3B GATA6
More info about this panelArrhythmia Panel Panel
By Blueprint Genetics Arrhythmia Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN5A TBX5 TGFB3 TNNI3 TNNT2 TRDN TTN
More info about this panelComprehensive Cardiology Panel Panel
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panelBRUGADA SYNDROME/LONG-QT/SHORT-QT/VENTRICULAR TACHYCARDIA: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL BRUGADA SYNDROME/LONG-QT/SHORT-QT/VENTRICULAR TACHYCARDIA: NGS PANEL that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCNN1A SNTA1 TRDN CACNA1C
More info about this panelPAROXYSMAL EXTREME PAIN DISORDER Panel
By Laboratorio de Genetica Clinica SL PAROXYSMAL EXTREME PAIN DISORDER that also includes the following genes: SCN10A SCN11A SCN9A
More info about this panelVentricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes Panel
By Reference Laboratory Genetics Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TGFB3 TNNC1 TNNI3
More info about this panelParoxysmal Extreme Pain Disorder & Familial Episodic Pain Syndrome , Panel Massive Sequencing (NGS) TRPA1, SCN9A, SCN10A Panel
By Reference Laboratory Genetics Paroxysmal Extreme Pain Disorder & Familial Episodic Pain Syndrome , Panel Massive Sequencing (NGS) TRPA1, SCN9A, SCN10A that also includes the following genes: SCN10A SCN9A TRPA1
More info about this panelCardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes Panel
By Reference Laboratory Genetics Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: SCN10A SCN1B SCN5A TBX5 TTR CACNA1D ACTC1 HCN4 TRPM4 TNNI3K
More info about this panelEpisodic pain syndrome, familial Panel
By Labor Dr. Wisplinghoff Episodic pain syndrome, familial that also includes the following genes: SCN10A SCN11A
More info about this panelPhosphorus Pan Arrhythmia Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia Panel that also includes the following genes: RYR2 SCN10A SCN4B SCN5A SNTA1 TGFB3 TNNI3 TNNT2 TRDN TTN
More info about this panelPhosphorus Pan Arrhythmia and Cardiomyopathy Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Panel that also includes the following genes: RYR2 SCN10A SCN4B SCN5A SGCD SLC22A5 SNTA1 TAZ TCAP TGFB3
More info about this panelPhosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1
More info about this panelPhosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 BRAF
More info about this panelPhosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 SNTA1 TAZ TCAP
More info about this panelPhosphorus Brugada Syndrome Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Brugada Syndrome Panel that also includes the following genes: SCN10A SCN5A CACNA1C CACNB2 HCN4 GPD1L ABCC9 KCNE3 KCNH2 PKP2
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