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.

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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

SOURCES: ORPHANET OMIM

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

SOURCES: ORPHANET OMIM

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

SOURCES: ORPHANET OMIM

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

SOURCES: ORPHANET OMIM

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

SOURCES: ORPHANET MESH OMIM

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


Potential gene panels for SCN10A gene

Cardiac Arrhythmia Gene Panel Panel

New Zealand.

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 panel

SCN10A Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the SCN10A gene.

More info about this panel

Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis Panel

Netherlands.

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 panel

SCN10A. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SCN10A gene.

More info about this panel

Familial episodic pain syndrome, 2 (sequencing analysis of SCN10A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SCN10A gene.

More info about this panel

Familial episodic pain syndrome, 2 (sequencing analysis of SCN10A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SCN10A gene.

More info about this panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

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 panel

Episodic Pain Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Episodic Pain Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SCN10A SCN11A SCN9A

More info about this panel

Familial Episodic Pain Type 2 Syndrome via SCN10A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SCN10A gene.

More info about this panel

Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection Panel

United States.

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 panel

Brugada syndrome and related disorders Deletion / Duplication panel Panel

United States.

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 panel

Brugada syndrome and related disorders NGS panel Panel

United States.

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 panel

Cardiac channelopathy Deletion/ Duplication panel Panel

United States.

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 panel

Brugada syndrome and related disorders Comprehensive panel Panel

United States.

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 panel

Cardiac channelopathy Comprehensive panel Panel

United States.

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 panel

Cardiac channelopathy NGS panel Panel

United States.

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 panel

Neuropathy Panel

Germany.

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 panel

SCN10A Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SCN10A gene.

More info about this panel

Episodic pain syndrome type 2, familial Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SCN10A gene.

More info about this panel

AllNeuro panel Panel

Germany.

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 panel

Neuropathic Pain Syndromes Panel Panel

Germany.

By CeGaT GmbH Neuropathic Pain Syndromes Panel that also includes the following genes: SCN10A SCN11A SCN9A TRPA1 NTRK1

More info about this panel

Brugada Syndrome Panel Panel

Germany.

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 panel

Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel

Germany.

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 panel

Auricular Fibrillation Panel Panel

Spain.

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 panel

J Wave Syndrome Panel Panel

Spain.

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 panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Spain.

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 panel

Brugada Syndrome Panel Panel

Spain.

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 panel

Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel

Spain.

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 panel

Cardiac Conduction Disease Panel Panel

Spain.

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 panel

Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease Panel

Spain.

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 panel

Ventricular arrhythmia and sudden death without structural heart disease Panel

Spain.

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 panel

Cardiovascular Diseases_General Panel Panel

Spain.

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 panel

Cardiac conduction disease Panel Panel

Spain.

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 panel

Atrial fibrillation Panel Panel

Spain.

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 panel

Brugada syndrome / J wave syndrome Panel

Spain.

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 panel

Arrhythmia General Panel Panel

Spain.

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 panel

Epilepsy NGS Panel Panel

United States.

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 panel

SCN10A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SCN10A gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

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 panel

Atrial Fibrillation Panel Panel

Finland.

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 panel

Arrhythmia Panel Panel

Finland.

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 panel

Comprehensive Cardiology Panel Panel

Finland.

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 panel

BRUGADA SYNDROME/LONG-QT/SHORT-QT/VENTRICULAR TACHYCARDIA: NGS PANEL Panel

Spain.

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 panel

PAROXYSMAL EXTREME PAIN DISORDER Panel

Spain.

By Laboratorio de Genetica Clinica SL PAROXYSMAL EXTREME PAIN DISORDER that also includes the following genes: SCN10A SCN11A SCN9A

More info about this panel

Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes Panel

Spain.

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 panel

Paroxysmal Extreme Pain Disorder & Familial Episodic Pain Syndrome , Panel Massive Sequencing (NGS) TRPA1, SCN9A, SCN10A Panel

Spain.

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 panel

Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes Panel

Spain.

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 panel

Episodic pain syndrome, familial Panel

Germany.

By Labor Dr. Wisplinghoff Episodic pain syndrome, familial that also includes the following genes: SCN10A SCN11A

More info about this panel

Phosphorus Pan Arrhythmia Panel Panel

United States.

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 panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Panel Panel

United States.

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 panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel Panel

United States.

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 panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

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 panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel

United States.

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 panel

Phosphorus Brugada Syndrome Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Brugada Syndrome Panel that also includes the following genes: SCN10A SCN5A CACNA1C CACNB2 HCN4 GPD1L ABCC9 KCNE3 KCNH2 PKP2

More info about this panel


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