TRPM4 gene related symptoms and diseases
All the information presented here about the TRPM4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TRPM4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Arrhythmia | Very Common - Between 80% and 100% cases |
| Sudden cardiac death | Very Common - Between 80% and 100% cases |
| Syncope | Very Common - Between 80% and 100% cases |
| Left anterior fascicular block | Very Common - Between 80% and 100% cases |
| Atrioventricular block | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TRPM4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Right bundle branch block
- Bundle branch block
- Left bundle branch block
- Prolonged QRS complex
- Ventricular fibrillation
- Seizures
- Left posterior fascicular block
- Shortened PR interval
And 33 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TRPM4 gene
Here you will find a list of rare diseases related to the TRPM4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT
Alternate names
FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT Is also known as familial lev disease, familial lenÈgre disease, familial lev-lenÈgre disease, pfhbib, hereditary bundle branch defect, familial pccd, familial progressive heart block
Description
Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.
Most common symptoms of FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT
- Arrhythmia
- Abnormal heart morphology
- Abdominal pain
- Dyspnea
- Vertigo
More info about FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A
Alternate names
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A Is also known as bundle branch block, hbbd, pccd, pfhbia, heart block, progressive familial, type i, pfhbi, lenegre-lev disease, cardiac conduction defect, progressive, hereditary bundle branch system defect
Description
Progressive familial heart block type I (PFHBI, PFHB1) is an autosomal dominant cardiac bundle branch disorder that may progress to complete heart block (Brink and Torrington, 1977; van der Merwe et al., 1986; van der Merwe et al., 1988). It is defined on electrocardiogram by evidence of bundle branch disease, i.e., right bundle branch block, left anterior or posterior hemiblock, or complete heart block, with broad QRS complexes. Progression has been shown from a normal electrocardiogram to right bundle branch block and from the latter to complete heart block. These electrocardiographic features differentiate PFHB type I from progressive familial heart block type II (PFHBII, PFHB2; {140400}), in which the onset of complete heart block is associated with narrow complexes. Electrocardiographically the changes represent, respectively, bundle branch disease (PFHB1) and atrioventricular nodal disease with an atrioventricular block and an idionodal escape rhythm (PFHB2). PFHBI is manifested symptomatically when complete heart block supervenes, either with dyspnea, syncopal episodes, or sudden death. Treatment, which is best managed by regular electrocardiographic follow-up, is by the timely implantation of a pacemaker (Brink et al., 1995).
Most common symptoms of PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A
- Seizures
- Arrhythmia
- Dyspnea
- Sudden cardiac death
- Syncope
More info about PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A
SOURCES: OMIM
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
Search interest in TRPM4
Potential gene panels for TRPM4 gene
Brugada Syndrome Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Brugada Syndrome Panel that also includes the following genes: SCN1B SCN2B SCN5A CACNA1C CACNB2 SLMAP HCN4 TRPM4 SCN3B GPD1L
More info about this panel United States.
Comprehensive Cardiac Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Cardiac Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1
More info about this panel United States.
Cardiomyopathy Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cardiomyopathy Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SCO2 SGCD SKI BRAF SNTA1 SOS1
More info about this panel United States.
Brugada Syndrome Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Brugada Syndrome that also includes the following genes: SCN1B SCN5A CACNA1C CACNB2 HCN4 TRPM4 SCN3B GPD1L KCNE3
More info about this panel United States.
Comprehensive Arrhythmias Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Arrhythmias Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TRDN CACNA1C CACNB2 CALM1 CASQ2
More info about this panel United States.
Atrioventricular Block Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Atrioventricular Block Panel that also includes the following genes: SCN1B SCN5A TRPM4 NKX2-5 DES EMD LMNA
More info about this panel United States.
Brugada Syndrome Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Brugada Syndrome Panel that also includes the following genes: SCN1B SCN2B SCN5A CACNA1C CACNA2D1 CACNB2 SLMAP HCN4 RANGRF TRPM4
More info about this panel United States.
Cardiac Channelopathy Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Cardiac Channelopathy Panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TRDN CACNA1C CACNA2D1 CACNB2
More info about this panel United States.
TRPM4 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the TRPM4 gene.
More info about this panel Germany.
Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCA SGCB SGCD SGCG
More info about this panel United States.
CardioNext with TTN Panel
United States.
By Ambry Genetics CardioNext with TTN that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TAZ TBX1 TBX20 TBX5
More info about this panel United States.
CustomNext: Cardio Panel
United States.
By Ambry Genetics CustomNext: Cardio that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SKI SNTA1 TAZ TBX1 TBX20
More info about this panel United States.
RhythmNext Panel
United States.
By Ambry Genetics RhythmNext that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TBX5 TGFB3 TRDN CACNA1C CACNA2D1
More info about this panel United States.
RhythmFirst reflex RhythmNext Panel
United States.
By Ambry Genetics RhythmFirst reflex RhythmNext that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TBX5 TGFB3 TRDN CACNA1C CACNA2D1
More info about this panel United States.
TRPM4 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the TRPM4 gene.
More info about this panel Netherlands.
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 Netherlands.
Brugada Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Brugada Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SCN1B SCN2B SCN5A CACNA1C CACNA2D1 CACNB2 SLMAP HCN4 RANGRF TRPM4
More info about this panel United States.
Comprehensive Cardiology Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF
More info about this panel United States.
Progressive Familial Heart Block via TRPM4 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TRPM4 gene.
More info about this panel United States.
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 United States.
Atrioventricular block Deletion/ Duplication panel Panel
United States.
By Connective Tissue Gene Tests Atrioventricular block Deletion/ Duplication panel that also includes the following genes: SCN1B SCN5A TRPM4 NKX2-5 DES EMD LMNA
More info about this panel United States.
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 United States.
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 United States.
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 United States.
Progressive familial heart block type I NGS panel Panel
United States.
By Connective Tissue Gene Tests Progressive familial heart block type I NGS panel that also includes the following genes: SCN5A TRPM4
More info about this panel United States.
Progressive familial heart block type I Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Progressive familial heart block type I Comprehensive panel that also includes the following genes: SCN5A TRPM4
More info about this panel United States.
Progressive familial heart block type I Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Progressive familial heart block type I Deletion / Duplication panel that also includes the following genes: SCN5A TRPM4
More info about this panel United States.
Progressive familial heart block Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TRPM4 gene.
More info about this panel Germany.
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 Germany.
Brugada Syndrome/TRPM4 Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the TRPM4 gene.
More info about this panel Germany.
Cardio-channelopathy-gene-panel Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner Cardio-channelopathy-gene-panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TRDN CACNA1C CACNB2 CALM1
More info about this panel Germany.
Brugada Syndrome Panel
Estonia.
By Asper Biogene Asper Biogene LLC Brugada Syndrome that also includes the following genes: SCN1B SCN2B SCN5A CACNA1C CACNB2 HCN4 TRPM4 SCN3B GPD1L KCND3
More info about this panel Estonia.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
BRUGADA SYNDROME Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases BRUGADA SYNDROME that also includes the following genes: SCN1B SCN5A CACNA1C CACNA2D1 CACNB2 HCN4 RANGRF TRPM4 SCN3B GPD1L
More info about this panel Spain.
Arrhythmias: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Arrhythmias: Sequencing Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TRDN CACNA1C CACNB2 CALM1 CASQ2
More info about this panel United States.
Comprehensive Cardiovascular: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI SLC22A5 BRAF
More info about this panel United States.
TRPM4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TRPM4 gene.
More info about this panel United States.
Brugada Syndrome Panel Panel
Finland.
By Blueprint Genetics Brugada Syndrome Panel that also includes the following genes: SCN1B SCN5A CACNA1C CACNB2 CAV3 HCN4 TRPM4 SCN3B KCNH2
More info about this panel Finland.
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 Finland.
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 Finland.
Brugada Syndrome Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Brugada Syndrome Panel that also includes the following genes: SCN1B SCN2B SCN5A CACNA1C CACNA2D1 CACNB2 HCN4 TRPM4 SCN3B GPD1L
More info about this panel United States.
TRPM4 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the TRPM4 gene.
More info about this panel United States.
Cardiac Arrhythmia Exome Panel Panel
United States.
By Northwest Clinical Genomics Laboratory University of Washington Cardiac Arrhythmia Exome Panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TNNT2 TRDN TTN CACNA1C
More info about this panel United States.
TRPM4 Gene, entire coding region or targeted variant Panel
Canada.
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute
This panel specifically test the TRPM4 gene.
More info about this panel Canada.
BRUGADA SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL BRUGADA SYNDROME that also includes the following genes: SCN1B SCN5A CACNA1C CACNB2 HCN4 TRPM4 SCN3B GPD1L KCNE3
More info about this panel Spain.
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 Spain.
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 Spain.
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes Panel
Spain.
By Reference Laboratory Genetics Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC25A3 SLC6A4 SNTA1 TAZ
More info about this panel Spain.
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 Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DSG2-AS1 ALX3 KCNA5 CDK6 KCNQ1OT1 ELP1 BICRA