PFHB1B
MCID: PRG043
MIFTS: 54

Progressive Familial Heart Block, Type Ib (PFHB1B)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Progressive Familial Heart Block, Type Ib

MalaCards integrated aliases for Progressive Familial Heart Block, Type Ib:

Name: Progressive Familial Heart Block, Type Ib 56 13 71
Progressive Familial Heart Block Type Ib 12 73 29 6 15
Pfhb1b 56 12 52 73
Pfhbib 56 73
Heart Block, Familial, Progressive, Type 1b 39
Progressive Familial Heart Block Type 1b 52
Heart Block Progressive Familial Type 1b 52
Progressive Familial Heart Block 1b 73
Right Bundle Branch Block 71
Right-Bundle Branch Block 73
Cardiac Conduction Block 73
Heart Block 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
patients often require implantation of a pacemaker
conduction defect is progressive


HPO:

31
progressive familial heart block, type ib:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111076
OMIM 56 604559
OMIM Phenotypic Series 56 PS113900
MeSH 43 D002037
MedGen 41 C1970298
UMLS 71 C0018794 C0085615 C1970298

Summaries for Progressive Familial Heart Block, Type Ib

UniProtKB/Swiss-Prot : 73 Progressive familial heart block 1B: A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death.

MalaCards based summary : Progressive Familial Heart Block, Type Ib, also known as progressive familial heart block type ib, is related to progressive familial heart block, type ia and progressive familial heart block, and has symptoms including syncope An important gene associated with Progressive Familial Heart Block, Type Ib is TRPM4 (Transient Receptor Potential Cation Channel Subfamily M Member 4), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Serotonergic synapse. The drugs Atorvastatin and Enalapril have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and kidney, and related phenotypes are atrioventricular block and prolonged qt interval

Disease Ontology : 12 A progressive familial heart block characterized by that has material basis in heterozygous mutation in the TRPM4 gene on chromosome 19q13.

More information from OMIM: 604559 PS113900

Related Diseases for Progressive Familial Heart Block, Type Ib

Diseases in the Heart Block, Congenital family:

Progressive Familial Heart Block, Type Ia Progressive Familial Heart Block, Type Ii
Progressive Familial Heart Block, Type Ib Progressive Familial Heart Block

Diseases related to Progressive Familial Heart Block, Type Ib via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 138)
# Related Disease Score Top Affiliating Genes
1 progressive familial heart block, type ia 33.1 NXF5 GNB2
2 progressive familial heart block 29.7 TRPM4 HRC
3 right bundle branch block 13.3
4 brugada syndrome 1 12.5
5 brugada syndrome 12.1
6 brugada syndrome 2 11.6
7 brugada syndrome 3 11.6
8 brugada syndrome 4 11.6
9 brugada syndrome 5 11.6
10 brugada syndrome 6 11.6
11 brugada syndrome 7 11.6
12 brugada syndrome 8 11.6
13 brugada syndrome 9 11.6
14 kearns-sayre syndrome 11.3
15 myopathy, myofibrillar, 1 11.3
16 left bundle branch hemiblock 11.0
17 atrioventricular block 10.9
18 acute myocardial infarction 10.9
19 heart septal defect 10.9
20 tetralogy of fallot 10.8
21 ventricular septal defect 10.8
22 myocardial infarction 10.8
23 syncope 10.8
24 atrial standstill 1 10.6
25 wolff-parkinson-white syndrome 10.6
26 congestive heart failure 10.6
27 atrial heart septal defect 10.6
28 ischemia 10.6
29 arrhythmogenic right ventricular cardiomyopathy 10.6
30 heart disease 10.5
31 anteroseptal myocardial infarction 10.5
32 pulmonary embolism 10.5
33 cardiogenic shock 10.5
34 atrioventricular dissociation 10.5
35 hyperlipoproteinemia, type iii 10.5
36 lipoprotein quantitative trait locus 10.5
37 second-degree atrioventricular block 10.5
38 hypertrophic cardiomyopathy 10.5
39 inferior myocardial infarction 10.5
40 coronary heart disease 1 10.4
41 atrial fibrillation 10.4
42 cardiac arrest 10.4
43 chagas disease 10.4
44 dilated cardiomyopathy 10.4
45 posterior myocardial infarction 10.4
46 atrial septal aneurysm 10.4
47 arteries, anomalies of 10.3
48 early repolarization associated with ventricular fibrillation 10.3
49 angina pectoris 10.3
50 rheumatic heart disease 10.3

Graphical network of the top 20 diseases related to Progressive Familial Heart Block, Type Ib:



Diseases related to Progressive Familial Heart Block, Type Ib

Symptoms & Phenotypes for Progressive Familial Heart Block, Type Ib

Human phenotypes related to Progressive Familial Heart Block, Type Ib:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 atrioventricular block 31 HP:0001678
2 prolonged qt interval 31 HP:0001657
3 syncope 31 HP:0001279
4 right bundle branch block 31 HP:0011712
5 bradycardia 31 HP:0001662
6 shortened pr interval 31 HP:0005165
7 left anterior fascicular block 31 HP:0011711

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
prolonged qt interval
syncope
bradycardia
cardiac conduction defects
short pr interval
more

Clinical features from OMIM:

604559

UMLS symptoms related to Progressive Familial Heart Block, Type Ib:


syncope

Drugs & Therapeutics for Progressive Familial Heart Block, Type Ib

Drugs for Progressive Familial Heart Block, Type Ib (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 122)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 4 134523-00-5 60823
2
Enalapril Approved, Vet_approved Phase 4 75847-73-3 40466924 5362032
3
Enalaprilat Approved Phase 4 76420-72-9 6917719
4
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Meperidine Approved Phase 4 57-42-1 4058
7
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
8
tannic acid Approved Phase 4 1401-55-4
9
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
10
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
11
Sotalol Approved Phase 4 3930-20-9, 959-24-0 5253
12 Hypolipidemic Agents Phase 4
13 Anticholesteremic Agents Phase 4
14 Lipid Regulating Agents Phase 4
15 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
16 Antimetabolites Phase 4
17 Natriuretic Peptide, Brain Phase 4
18 Analgesics, Opioid Phase 4
19 Psychotropic Drugs Phase 4
20 Anti-Anxiety Agents Phase 4
21 GABA Modulators Phase 4
22 Adrenergic alpha-Agonists Phase 4
23 Hypnotics and Sedatives Phase 4
24 Analgesics, Non-Narcotic Phase 4
25 Analgesics Phase 4
26 Anesthetics Phase 4
27 Adrenergic Agonists Phase 4
28 Anesthetics, Local Phase 4
29 Sodium Channel Blockers Phase 4
30 Diuretics, Potassium Sparing Phase 4
31 Sympatholytics Phase 4
32
Galantamine Approved Phase 3 357-70-0 9651
33
Clonidine Approved Phase 3 4205-90-7 2803
34
Lofexidine Approved, Investigational Phase 3 31036-80-3 30668
35
Bisoprolol Approved Phase 3 66722-44-9 2405
36
Cephalexin Approved, Investigational, Vet_approved Phase 3 15686-71-2 27447
37
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
38
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029
39
Ofloxacin Approved Phase 3 82419-36-1 4583
40
Polymyxin B Approved, Vet_approved Phase 3 1404-26-8
41
Bacitracin Approved, Vet_approved Phase 3 1405-87-4 439542 10909430
42
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9 24083
43
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
44 Insulin, Globin Zinc Phase 3
45 Hypoglycemic Agents Phase 3
46 insulin Phase 3
47 Cholinesterase Inhibitors Phase 3
48 Cholinergic Agents Phase 3
49 Narcotics Phase 3
50 Narcotic Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 115)
# Name Status NCT ID Phase Drugs
1 Effects of Atorvastatin Treatment on Left Ventricular Diastolic Function in Peritoneal Dialysis Patients (ALEVENT) Unknown status NCT01503671 Phase 4 Atorvastatin
2 A Randomized Trial of Carvedilol After Renin-angiotensin System Inhibition in Chronic Chagas Cardiomyopathy Completed NCT01557140 Phase 4 RASi plus carvedilol
3 CryoCath Freezor CryoAblation Catheter System (CRYOFACTS) Completed NCT00621621 Phase 4
4 Syncope: Pacing or Recording in the Later Years (SPRITELY) Completed NCT01423994 Phase 4
5 Analyse Der Unterschiede Zwischen Aktiv-fixierenden Und Passiv-fixierenden Stimulations-Elektroden Hinsichtlich Implantationsdauer Und Elektrischer Parameter Completed NCT00180557 Phase 4
6 The Impact of Dexmedetomidine on Tourniquet Induced -Systemic Effects in Total Knee Arthroplasty Under Spinal Anesthesia-prospective Study. Completed NCT04307290 Phase 4 Dexmedetomidine Hydrochloride, or Saline
7 A Randomized Comparison of Midazolam With Meperidine and Dexmedetomidine Versus Midazolam With Meperidine and Propofol for Sedation During ERCP Completed NCT02475824 Phase 4 Midazolam®;"Meperidine" (pethidine®);Propofol®;Dexmedetomidine (Precedex®)
8 Peripheral Nerve Blocks for Major Lower Extremity Amputations Recruiting NCT03174782 Phase 4 Bupivacaine;Saline Solution
9 Comparision of Different Doses of Dexmedetomidine With Low Dose Bupivacaine in Selective Spinal Anesthesia for Transurethral Resection of Prostate in Elderly Males. Recruiting NCT04037774 Phase 4 Dexmedetomidine
10 A Prospective, Multi-Center, Randomized, Open Label Trial to Determine if a Common Atrial Fibrillation Risk Locus Modulates Differential Response to Antiarrhythmic Drugs Not yet recruiting NCT02347111 Phase 4 Flecainide;Sotalol
11 VIRTUE: Virtual Clinic Pacemaker Follow-up Terminated NCT00475124 Phase 4
12 CArdiac Sarcoidosis Response TO steRoids (CASTOR) Trial Withdrawn NCT01210677 Phase 4 Prednisone
13 Topical Timolol for the Treatment of Benign Vascular Periocular Lesions Withdrawn NCT01250457 Phase 4 topical Timolol
14 Pilot Double-Blind Placebo Controlled Trial of Levothyroxine in Pregnant Systemic Lupus Erythematosus (SLE) Patients With Autoimmune Thyroid Disease Withdrawn NCT01276782 Phase 4 Levothyroxine
15 Outcomes With Use Of Intensive Insulin Therapy In Intraoperative Management Of Hyperglycemia In Adult Patients Undergoing Cardiac Surgery Completed NCT00282698 Phase 3 Insulin infusion with a goal
16 Placebo-Controlled Evaluation of Galantamine in the Treatment of Alzheimer's Disease: A Cardiac Safety Study. Completed NCT00309725 Phase 3 galantamine
17 Perioperative Infusion of Dexmedetomidine Improves Outcomes of Cardiovascular Surgery Completed NCT02237495 Phase 2, Phase 3 dexmedetomidine;placebo
18 Phase 3, Randomized, Multicenter, Double-Blind, Placebo-Controlled, Efficacy, Safety, and Dose-Response Study of Lofexidine for Treatment of Opioid Withdrawal (Days 1-7) Followed by Open-Label, Variable Dose Lofexidine Treatment (Days 8-14) Completed NCT01863186 Phase 3 Lofexidine HCl;Placebo;Open Label Lofexidine HCL
19 A Randomized Controlled Trial of Prophylactic Pulmonary Vein Isolation as Adjunct to Coronary Artery Bypass Grafting Completed NCT00338715 Phase 3
20 Effectiveness of Peripheral Dexmedetomidine for Bilateral Third Molar Surgery Under General Anaesthesia Completed NCT00971178 Phase 3 local dexmedetomidine;Peripheral normal saline;IV dexmedetomidine
21 A Randomized Double-blind Placebo Force-titration Controlled Study With Bisoprolol in Patients With Chronic Heart Failure Secondary to Chagas´ Cardiomyopathy. Completed NCT00323973 Phase 3 Bisoprolol
22 Randomized Noninferiority Study of an Antibacterial Envelope Alone Versus Envelope Plus Intraoperative Antibacterial Irrigant and Postoperative Antibiotics to Prevent Cardiac Implantable Electronic Device Infections in High-Risk Patients Recruiting NCT02809131 Phase 3 polymixin/bacitracin;cephalexin, or levofloxacin, or clindamycin;Saline
23 Magnesium Sulfate Versus Dexmedetomidine on Anesthesia Awakening. Randomized Clinical Trial. Not yet recruiting NCT04300985 Phase 3 Dexmedetomidine;Sham treatment;Magnesium Sulfate
24 Lidocaine Infusion for Chronic Pain in Opioid Dependent Patients Terminated NCT02219321 Phase 3 Lidocaine infusion;Saline infusion
25 A Phase 3 Study of Carvedilol vs Variceal Band Ligation vs Combination Therapy for Primary Prophylaxis of Variceal Bleeding Withdrawn NCT02066649 Phase 3 Carvedilol
26 "Effects of Beta-Blockade on Cardiovascular Morbidity and Mortality in Elderly Trauma Patients: A Prospective Randomized Clinical Trial" Unknown status NCT00302692 Phase 2 Esmolol;Metoprolol
27 Prevention of Early Readmission in Elderly Congestive Heart Failure Patients Completed NCT00000475 Phase 2
28 Aminophylline in Bradyasystolic Cardiac Arrest: A Randomized Placebo-Controlled Trial Completed NCT00312273 Phase 2 Aminophylline (250mg IV +/- a second dose of 250mg IV)
29 A Phase II Trial of a Vascular Endothelial Growth Factor (VEGF) Monoclonal Antibody, AVASTIN, in Combination With Cytotoxic Chemotherapy CARBOPLATIN and PACLITAXEL for Recurrent/Advanced Endometrial Cancer Completed NCT00879359 Phase 2 carboplatin, paclitaxel, and bevacizumab
30 Preventive Approach to Congenital Heart Block With Hydroxychloroquine Active, not recruiting NCT01379573 Phase 2 Hydroxychloroquine
31 A Randomised, Placebo-controlled Pilot Trial to Examine the Efficacy of Interventions to Prevent Left Ventricular Remodelling in Patients Receiving New Pacemaker Implantation (OPT-Prevent-pilot). Not yet recruiting NCT03422705 Phase 2 Lisinopril
32 Utilization of Confocal Microscopy During Cardiac Surgery Completed NCT03189134 Phase 1 Fluorescite
33 Low Dose Perioperative Ketamine Infusion and it's Effect on Postoperative Pain Score, Sedation Score and Narcotic Consumption in Patients Undergoing Spine Surgery: A Prospective Randomized Double Blind Control Trial. Recruiting NCT04259476 Phase 1 Ketamine Hydrochloride
34 Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol Terminated NCT01533376 Phase 1 Timolol;Preservative free artificial tear gel.
35 Congenital or Idiopathic Complete Right Bundle Branch Block: Physiological Significance and Molecular Characterization Unknown status NCT00173342
36 Clinical Profile of Patients With Pulmonary Hypertension Due to Lung Diseases ( Single Center Experience) Unknown status NCT02774928
37 Effects of Chronic Right Ventricular Pacing in Children With Advanced Atrioventricular Block Unknown status NCT01477658
38 Right Apical Versus Septal Pacing Trial Unknown status NCT00199498
39 Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms Unknown status NCT02881671
40 Impact of Septal Vs Apical Pacing on Right and Left Ventricular Performance Unknown status NCT01798043
41 Peripheral Nerve Conduction Block Using a High Frequency Alternating Stimulation: A Pilot Study Unknown status NCT03169049
42 Development and Prevention of Severe Heart Disease in Systemic Sclerosis Unknown status NCT01829126
43 Tc99m-PYP Scintigraphy in Order to Establish Incidence of Cardiac Transthyretin Amyloidosis Among Patients With Otherwise Unexplained Cardiomyopathies Unknown status NCT03098901
44 Right Ventricular Lead Placement in a Pacemaker Population: Evaluation of Apical and Alternative Position - Right Pace Study Unknown status NCT01647490
45 Management of Supraventricular Tachycardia of Children Admitted to Assiut University Children Hospital(Clinical Audit) Unknown status NCT03528616 adenosine,Propranolol,flecainide, amiodarone, propranolol, digoxin and procainamide.
46 Tryptase Levels as a Marker of Mast Cell Activity and the Prognostic Implication in Patients Post Transcatheter Aortic Valve Replacement Unknown status NCT03047681
47 Catheter Ablation Compared With Pharmacological Therapy for Atrial Fibrillation - a Randomized Multicentre Study Comparing Atrial Fibrillation Ablation Strategy With Optimized Conventional Pharmacological Strategy After 12 Months Follow-up. Unknown status NCT02294955 Amiodarone;Sotalol;Flecainide;Propafenone;Disopyramide;Dronedarone
48 Post-Operative Pain After Laparoscopic Ventral Hernia Repair, Impact of Mesh Impregnation With Bupivacaine Solution vs. Normal Saline Solution Unknown status NCT03035617 Bupivacaine
49 Postoperative Right Bundle Branch Block - Long-term Effect on the Right Ventricle in Children Operated for Ventricular Septal Defect Completed NCT01480908
50 Genetic Architecture of Heart Disease in Rural Brazil Completed NCT00023556

Search NIH Clinical Center for Progressive Familial Heart Block, Type Ib

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Dopamine
Dopamine Hydrochloride
Epinephrine
epinephrine bitartrate
epinephrine hydrochloride
epinephryl borate
Isoproterenol
Isoproterenol Hydrochloride
Isoproterenol Sulfate
Racepinephrine Hydrochloride

Genetic Tests for Progressive Familial Heart Block, Type Ib

Genetic tests related to Progressive Familial Heart Block, Type Ib:

# Genetic test Affiliating Genes
1 Progressive Familial Heart Block Type Ib 29 TRPM4

Anatomical Context for Progressive Familial Heart Block, Type Ib

MalaCards organs/tissues related to Progressive Familial Heart Block, Type Ib:

40
Heart, Testes, Kidney, Lung, Endothelial, Brain, Thyroid

Publications for Progressive Familial Heart Block, Type Ib

Articles related to Progressive Familial Heart Block, Type Ib:

(show top 50) (show all 3364)
# Title Authors PMID Year
1
Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbances. 56 6 61
21887725 2012
2
Progressive familial heart block--two types. 56 6 61
897853 1977
3
Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease. 56 6
20562447 2010
4
Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I. 6 56
19726882 2009
5
Hereditary bundle branch system defect: survey of a family with four affected generations. 56 6
619595 1978
6
Hereditary bundle branch defect: right bundle branch blocks of different causes have different morphologic characteristics. 56 61
9023172 1997
7
An isolated cardiac conduction disease maps to chromosome 19q. 61 56
7554120 1995
8
Aberrant Deactivation-Induced Gain of Function in TRPM4 Mutant Is Associated with Human Cardiac Conduction Block. 6
30021168 2018
9
Characterisation of the human voltage-gated potassium channel gene, KCNA7, a candidate gene for inherited cardiac disorders, and its exclusion as cause of progressive familial heart block I (PFHBI). 56
11896454 2002
10
Gene for progressive familial heart block type I maps to chromosome 19q13. 56
7882468 1995
11
Progressive familial heart block (type I). A follow-up study after 10 years. 56
3347879 1988
12
Progressive familial heart block. Part II. Clinical and ECG confirmation of progression--report on 4 cases. 56
3750143 1986
13
Familial fascicular block: histologic features of Lev's disease. 56
4003252 1985
14
Pacemaker and conduction disturbances in patients with atrial septal defect. 61
32498739 2020
15
Left bundle branch pacing improved heart function in a 10-year-old child after a 3-month follow-up. 61
32529257 2020
16
Autopsy evaluation of the implantation site of a his bundle pacing lead demonstrating selective capture. 61
32548908 2020
17
Clinical correlates and outcome of the patterns of premature ventricular beats in Olympic athletes: a long-term follow-up study. 61
32484042 2020
18
Cardiac rhythm abnormalities - An underestimated cardiovascular risk in adult patients with Mucopolysaccharidoses. 61
32241717 2020
19
Creation of sinus rhythm and paced maps using a single acquisition step: the "one acquisition-two maps" technique-a feasibility study. 61
32562193 2020
20
Electrocardiographic Findings in COVID-19: Insights on Mortality and Underlying Myocardial Processes. 61
32544622 2020
21
The heart in m.3243A>G carriers. 61
30128910 2020
22
The impact of an ultra-trail on the dynamic of cardiac, inflammatory, renal and oxidative stress biological markers correlated with electrocardiogram and echocardiogram. 61
32539581 2020
23
Audit of a cardiac screening policy for elite Australian cricketers. 61
31956043 2020
24
Aortic Valve Calcification as a Predictor of Post-Transcatheter Aortic Valve Replacement Pacemaker Dependence. 61
32494325 2020
25
Noncompaction cardiomyopathy and multiple coronary-cameral fistulae in an octogenarian. 61
32547659 2020
26
Electrocardiographic features of right bundle branch block in Netherland dwarf rabbits. 61
32323327 2020
27
Keeping pace with the competition: His bundle versus biventricular pacing in heart failure. 61
32205478 2020
28
New-onset intrinsic and paced QRS morphology of right bundle branch block pattern after atrioventricular nodal ablation: Longitudinal dissociation or anatomical bifurcation? 61
32249456 2020
29
Unique features of epicardial ventricular arrhythmias/premature ventricular complexes ablated from coronary venous system in veteran population. 61
32081685 2020
30
Validation of scoring system predicting permanent pacemaker implantation after transcatheter aortic valve replacement. 61
32270881 2020
31
Impact of Left Ventricular Outflow Tract Calcification on Pacemaker Implantation After Transcatheter Aortic Valve Implantation With Second-Generation Devices. 61
32045345 2020
32
Effect of transcatheter closure by AmplatzerTM Duct Occluder II in patients with small ventricular septal defect. 61
32462466 2020
33
Evaluation of the incidence, timing, and potential recovery rates of complete atrioventricular block after transcatheter aortic valve implantation: a Japanese multicenter registry study. 61
32418052 2020
34
Elaborate evaluation of serial changes in electrocardiograms of atrial septal defects after transcatheter closure for a better understanding of the recovery process. 61
32468142 2020
35
QTc interval evaluation in patients with right bundle branch block or bifascicular blocks. 61
32427380 2020
36
A case of incessant bundle branch reentry tachycardia occurring after phase 3 right bundle branch block as a first manifestation of left ventricular noncompaction cardiomyopathy in a patient with bicuspid aortic valve. 61
32461894 2020
37
Ventricular arrhythmias and risk stratification of cardiac sudden death in athletes. 61
32429629 2020
38
Comparison of measures of ventricular delay on cardiac resynchronization therapy response. 61
31765805 2020
39
Arrhythmias in Relation to Mortality After Transcatheter Aortic Valve Replacement. 61
32325047 2020
40
The association of cannabis use and cardiac dysrhythmias: a systematic review. 61
32267189 2020
41
Tachyarrhythmia discriminator for implantable cardioverter-defibrillators in bundle branch block. 61
32353586 2020
42
Electrical and mechanical dyssynchrony in patients with right bundle branch block. 61
30143955 2020
43
Electrical and mechanical dyssynchrony in patients with right bundle branch block. 61
30298370 2020
44
The impact of right bundle branch block on right ventricular size and function assessed by three-dimensional speckle-tracking echocardiography. 61
31630228 2020
45
Complete atrioventricular block caused by pulmonary embolism: A case report and review of literature. 61
31248624 2020
46
Choose to fly higher rather than pacing around. 61
32159292 2020
47
Impact of the repositionable Evolut R CoreValve system on the need for a permanent pacemaker after transcatheter aortic valve implantation in patients with severe aortic stenosis. 61
31062927 2020
48
Electrocardiographic morphology during left bundle branch area pacing: Characteristics, underlying mechanisms, and clinical implications. 61
32045008 2020
49
An intelligent learning approach for improving ECG signal classification and arrhythmia analysis. 61
32143795 2020
50
Pacemaker implantation after aortic valve replacement: rapid-deployment Intuity® compared to conventional bioprostheses. 61
32215660 2020

Variations for Progressive Familial Heart Block, Type Ib

ClinVar genetic disease variations for Progressive Familial Heart Block, Type Ib:

6 (show top 50) (show all 242) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRPM4 NM_017636.4(TRPM4):c.19G>A (p.Glu7Lys)SNV Pathogenic 3770 rs267607142 19:49661142-49661142 19:49157885-49157885
2 TRPM4 NM_017636.4(TRPM4):c.490C>T (p.Arg164Trp)SNV Pathogenic 35488 rs387907216 19:49671558-49671558 19:49168301-49168301
3 TRPM4 NM_017636.4(TRPM4):c.2741A>G (p.Lys914Arg)SNV Pathogenic 35490 rs172151858 19:49703652-49703652 19:49200395-49200395
4 TRPM4 NM_017636.4(TRPM4):c.1082T>G (p.Leu361Arg)SNV Conflicting interpretations of pathogenicity 180562 rs148763371 19:49675297-49675297 19:49172040-49172040
5 TRPM4 NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp)SNV Conflicting interpretations of pathogenicity 35489 rs200038418 19:49700017-49700017 19:49196760-49196760
6 HRC , TRPM4 NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser)SNV Conflicting interpretations of pathogenicity 35486 rs172149856 19:49691898-49691898 19:49188641-49188641
7 HRC , TRPM4 NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)SNV Conflicting interpretations of pathogenicity 35487 rs201907325 19:49685865-49685865 19:49182608-49182608
8 TRPM4 NM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys)SNV Conflicting interpretations of pathogenicity 222851 rs144781529 19:49671214-49671214 19:49167957-49167957
9 TRPM4 NM_017636.4(TRPM4):c.2987_3014del (p.Glu996fs)deletion Conflicting interpretations of pathogenicity 225503 rs765535147 19:49705252-49705279 19:49201995-49202022
10 TRPM4 NM_017636.4(TRPM4):c.286C>T (p.Arg96Ter)SNV Conflicting interpretations of pathogenicity 489190 rs148855956 19:49671192-49671192 19:49167935-49167935
11 TRPM4 NM_017636.4(TRPM4):c.3377C>G (p.Ser1126Trp)SNV Conflicting interpretations of pathogenicity 697632 19:49714015-49714015 19:49210758-49210758
12 TRPM4 NM_017636.4(TRPM4):c.1874-9C>TSNV Conflicting interpretations of pathogenicity 698453 19:49692194-49692194 19:49188937-49188937
13 TRPM4 NM_017636.4(TRPM4):c.3073G>A (p.Val1025Ile)SNV Conflicting interpretations of pathogenicity 409632 rs186822052 19:49705340-49705340 19:49202083-49202083
14 TRPM4 NM_017636.4(TRPM4):c.3489A>G (p.Gly1163=)SNV Conflicting interpretations of pathogenicity 415726 rs760190293 19:49714299-49714299 19:49211042-49211042
15 TRPM4 NM_017636.4(TRPM4):c.657C>T (p.Asp219=)SNV Conflicting interpretations of pathogenicity 468942 rs373953725 19:49671854-49671854 19:49168597-49168597
16 TRPM4 NM_017636.4(TRPM4):c.2209G>A (p.Gly737Arg)SNV Conflicting interpretations of pathogenicity 468934 rs145847114 19:49694029-49694029 19:49190772-49190772
17 TRPM4 NM_017636.4(TRPM4):c.2020-4A>CSNV Conflicting interpretations of pathogenicity 515281 rs369498574 19:49693461-49693461 19:49190204-49190204
18 TRPM4 NM_017636.4(TRPM4):c.1873+4C>TSNV Conflicting interpretations of pathogenicity 508951 rs746766318 19:49692031-49692031 19:49188774-49188774
19 TRPM4 NM_017636.4(TRPM4):c.755G>A (p.Arg252His)SNV Conflicting interpretations of pathogenicity 241182 rs146564314 19:49671952-49671952 19:49168695-49168695
20 TRPM4 NM_017636.4(TRPM4):c.1368C>G (p.Thr456=)SNV Conflicting interpretations of pathogenicity 241173 rs56118173 19:49685939-49685939 19:49182682-49182682
21 TRPM4 NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del)deletion Conflicting interpretations of pathogenicity 241175 rs878855029 19:49686029-49686064 19:49182772-49182807
22 TRPM4 NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter)SNV Conflicting interpretations of pathogenicity 241176 rs71352737 19:49686146-49686146 19:49182889-49182889
23 TRPM4 NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter)SNV Conflicting interpretations of pathogenicity 241177 rs140799936 19:49703651-49703651 19:49200394-49200394
24 TRPM4 NM_017636.4(TRPM4):c.1119C>A (p.Phe373Leu)SNV Conflicting interpretations of pathogenicity 264591 rs141531245 19:49675334-49675334 19:49172077-49172077
25 TRPM4 NM_017636.4(TRPM4):c.988G>A (p.Glu330Lys)SNV Conflicting interpretations of pathogenicity 329851 rs145771389 19:49674964-49674964 19:49171707-49171707
26 TRPM4 NM_017636.4(TRPM4):c.1242T>C (p.Phe414=)SNV Conflicting interpretations of pathogenicity 329854 rs200633475 19:49684697-49684697 19:49181440-49181440
27 TRPM4 NM_017636.4(TRPM4):c.2085C>T (p.Leu695=)SNV Conflicting interpretations of pathogenicity 329858 rs781191851 19:49693530-49693530 19:49190273-49190273
28 TRPM4 NM_017636.4(TRPM4):c.2779-5C>TSNV Conflicting interpretations of pathogenicity 329867 rs374639233 19:49703863-49703863 19:49200606-49200606
29 TRPM4 NM_017636.4(TRPM4):c.748C>T (p.Arg250Cys)SNV Conflicting interpretations of pathogenicity 329849 rs144208673 19:49671945-49671945 19:49168688-49168688
30 TRPM4 NM_017636.4(TRPM4):c.2231A>T (p.Lys744Met)SNV Conflicting interpretations of pathogenicity 329862 rs569301210 19:49699717-49699717 19:49196460-49196460
31 TRPM4 NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys)SNV Conflicting interpretations of pathogenicity 329866 rs147854826 19:49703585-49703585 19:49200328-49200328
32 TRPM4 NM_017636.4(TRPM4):c.92+12G>ASNV Conflicting interpretations of pathogenicity 329839 rs377431946 19:49661528-49661528 19:49158271-49158271
33 TRPM4 NM_017636.4(TRPM4):c.2133-9C>GSNV Conflicting interpretations of pathogenicity 329859 rs530013543 19:49693944-49693944 19:49190687-49190687
34 TRPM4 NM_017636.4(TRPM4):c.2254C>T (p.Gln752Ter)SNV Conflicting interpretations of pathogenicity 373748 rs769917929 19:49699740-49699740 19:49196483-49196483
35 TRPM4 NM_017636.4(TRPM4):c.1873+13C>GSNV Conflicting interpretations of pathogenicity 387331 rs184297107 19:49692040-49692040 19:49188783-49188783
36 TRPM4 NM_017636.4(TRPM4):c.2561A>G (p.Gln854Arg)SNV Conflicting interpretations of pathogenicity 381691 rs172155862 19:49700047-49700047 19:49196790-49196790
37 TRPM4 NM_017636.4(TRPM4):c.24+6C>GSNV Conflicting interpretations of pathogenicity 389832 rs767900879 19:49661153-49661153 19:49157896-49157896
38 TRPM4 NM_017636.4(TRPM4):c.870C>T (p.Asn290=)SNV Conflicting interpretations of pathogenicity 386319 rs141997826 19:49674846-49674846 19:49171589-49171589
39 TRPM4 NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu)SNV Conflicting interpretations of pathogenicity 381692 rs150391806 19:49714497-49714497 19:49211240-49211240
40 TRPM4 NM_017636.4(TRPM4):c.*12G>ASNV Uncertain significance 329873 rs761801567 19:49714767-49714767 19:49211510-49211510
41 TRPM4 NM_017636.4(TRPM4):c.*84C>TSNV Uncertain significance 329875 rs192428881 19:49714839-49714839 19:49211582-49211582
42 TRPM4 NM_017636.4(TRPM4):c.2358C>T (p.Asn786=)SNV Uncertain significance 329863 rs886054579 19:49699844-49699844 19:49196587-49196587
43 TRPM4 NM_017636.4(TRPM4):c.2790G>A (p.Val930=)SNV Uncertain significance 329868 rs886054580 19:49703879-49703879 19:49200622-49200622
44 TRPM4 NM_017636.4(TRPM4):c.250G>A (p.Gly84Ser)SNV Uncertain significance 329842 rs151258293 19:49669455-49669455 19:49166198-49166198
45 TRPM4 NM_017636.4(TRPM4):c.251G>T (p.Gly84Val)SNV Uncertain significance 329843 rs886054575 19:49669456-49669456 19:49166199-49166199
46 TRPM4 NM_017636.4(TRPM4):c.291G>A (p.Thr97=)SNV Uncertain significance 329845 rs886054576 19:49671197-49671197 19:49167940-49167940
47 TRPM4 NM_017636.4(TRPM4):c.*81G>TSNV Uncertain significance 329874 rs138173650 19:49714836-49714836 19:49211579-49211579
48 TRPM4 NM_017636.4(TRPM4):c.*119C>TSNV Uncertain significance 329876 rs757446153 19:49714874-49714874 19:49211617-49211617
49 TRPM4 NM_017636.4(TRPM4):c.2536G>T (p.Gly846Trp)SNV Uncertain significance 329865 rs772659037 19:49700022-49700022 19:49196765-49196765
50 TRPM4 NM_017636.4(TRPM4):c.1532T>A (p.Leu511Gln)SNV Uncertain significance 329856 rs200508171 19:49686103-49686103 19:49182846-49182846

UniProtKB/Swiss-Prot genetic disease variations for Progressive Familial Heart Block, Type Ib:

73
# Symbol AA change Variation ID SNP ID
1 TRPM4 p.Glu7Lys VAR_064042 rs267607142
2 TRPM4 p.Gln131His VAR_066763 rs172146854
3 TRPM4 p.Arg164Trp VAR_066764 rs387907216
4 TRPM4 p.Gln293Arg VAR_066766 rs172147855
5 TRPM4 p.Ala432Thr VAR_066767 rs201907325
6 TRPM4 p.Gly582Ser VAR_066770 rs172149856
7 TRPM4 p.Tyr790His VAR_066771 rs172150857
8 TRPM4 p.Gly844Asp VAR_066772 rs200038418
9 TRPM4 p.Lys914Arg VAR_066774 rs172151858
10 TRPM4 p.Pro970Ser VAR_066775 rs172152859

Expression for Progressive Familial Heart Block, Type Ib

Search GEO for disease gene expression data for Progressive Familial Heart Block, Type Ib.

Pathways for Progressive Familial Heart Block, Type Ib

Pathways related to Progressive Familial Heart Block, Type Ib according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.39 TRPM4 GNB5 GNB2 CLCA2
2 11.38 GNB5 GNB2
3 11.23 GNB5 GNB2
4
Show member pathways
11.12 GNB5 GNB2
5 10.3 GNB5 GNB2

GO Terms for Progressive Familial Heart Block, Type Ib

Cellular components related to Progressive Familial Heart Block, Type Ib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heterotrimeric G-protein complex GO:0005834 8.62 GNB5 GNB2

Biological processes related to Progressive Familial Heart Block, Type Ib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.13 TRPM4 GJD3 CLCA2
2 positive regulation of heart rate GO:0010460 8.62 TRPM4 HRC

Molecular functions related to Progressive Familial Heart Block, Type Ib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G-protein gamma-subunit binding GO:0031682 8.62 GNB5 GNB2

Sources for Progressive Familial Heart Block, Type Ib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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