PFHB1B
MCID: PRG043
MIFTS: 48

Progressive Familial Heart Block, Type Ib (PFHB1B)

Categories: Cardiovascular diseases, Genetic diseases, Rare 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 57 13 72
Pfhb1b 57 12 53 74
Progressive Familial Heart Block Type 1b 53 29 6
Progressive Familial Heart Block Type Ib 12 74
Pfhbib 57 74
Heart Block, Familial, Progressive, Type 1b 40
Heart Block Progressive Familial Type 1b 53
Progressive Familial Heart Block 1b 74
Right Bundle Branch Block 72
Right-Bundle Branch Block 74
Cardiac Conduction Block 74
Heart Block 72

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
progressive familial heart block, type ib:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111076
MeSH 44 D002037
MedGen 42 C1970298
UMLS 72 C0018794 C0085615 C1970298

Summaries for Progressive Familial Heart Block, Type Ib

UniProtKB/Swiss-Prot : 74 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 pfhb1b, is related to right bundle branch block and brugada syndrome 1, 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). The drugs Atorvastatin and Enalapril have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and lung, 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 129)
# Related Disease Score Top Affiliating Genes
1 right bundle branch block 13.3
2 brugada syndrome 1 12.5
3 progressive familial heart block, type ia 12.3
4 brugada syndrome 12.1
5 brugada syndrome 2 11.6
6 brugada syndrome 3 11.6
7 brugada syndrome 4 11.6
8 brugada syndrome 5 11.6
9 brugada syndrome 6 11.6
10 brugada syndrome 7 11.6
11 brugada syndrome 8 11.6
12 brugada syndrome 9 11.6
13 kearns-sayre syndrome 11.3
14 myopathy, myofibrillar, 1 11.3
15 left bundle branch hemiblock 11.0
16 atrioventricular block 10.9
17 acute myocardial infarction 10.9
18 heart septal defect 10.9
19 tetralogy of fallot 10.8
20 ventricular septal defect 10.8
21 myocardial infarction 10.8
22 syncope 10.8
23 atrial standstill 1 10.6
24 wolff-parkinson-white syndrome 10.6
25 congestive heart failure 10.6
26 atrial heart septal defect 10.6
27 ischemia 10.6
28 arrhythmogenic right ventricular cardiomyopathy 10.6
29 heart disease 10.6
30 coronary heart disease 1 10.5
31 anteroseptal myocardial infarction 10.5
32 pulmonary embolism 10.5
33 atrioventricular dissociation 10.5
34 hyperlipoproteinemia, type iii 10.5
35 cardiac arrest 10.5
36 coronary artery anomaly 10.5
37 second-degree atrioventricular block 10.5
38 atrial fibrillation 10.5
39 inferior myocardial infarction 10.5
40 hypertrophic cardiomyopathy 10.5
41 cardiogenic shock 10.5
42 chagas disease 10.4
43 dilated cardiomyopathy 10.4
44 posterior myocardial infarction 10.4
45 atrial septal aneurysm 10.4
46 arteries, anomalies of 10.3
47 early repolarization associated with ventricular fibrillation 10.3
48 angina pectoris 10.3
49 rheumatic heart disease 10.3
50 heart valve 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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 atrioventricular block 32 HP:0001678
2 prolonged qt interval 32 HP:0001657
3 syncope 32 HP:0001279
4 right bundle branch block 32 HP:0011712
5 bradycardia 32 HP:0001662
6 left anterior fascicular block 32 HP:0011711
7 shortened pr interval 32 HP:0005165

Symptoms via clinical synopsis from OMIM:

57
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 141)
# 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 5362032 40466924
3
Enalaprilat Approved Phase 4 76420-72-9 6917719
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
6
Meperidine Approved Phase 4 57-42-1 4058
7
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
8
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
9
tannic acid Approved Phase 4 1401-55-4
10
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
11
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
12 Lipid Regulating Agents Phase 4
13 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
14 Hypolipidemic Agents Phase 4
15 Antimetabolites Phase 4
16 Anticholesteremic Agents Phase 4
17 Natriuretic Peptide, Brain Phase 4
18 Narcotics Phase 4
19 Analgesics, Opioid Phase 4
20 Tranquilizing Agents Phase 4
21 Anti-Anxiety Agents Phase 4
22 GABA Agents Phase 4
23 Adjuvants, Anesthesia Phase 4
24 GABA Modulators Phase 4
25 Anesthetics, General Phase 4
26 Psychotropic Drugs Phase 4
27 Anesthetics, Intravenous Phase 4
28 Autonomic Agents Phase 4
29 Analgesics Phase 4
30 Adrenergic alpha-2 Receptor Agonists Phase 4
31 Adrenergic Agonists Phase 4
32 Analgesics, Non-Narcotic Phase 4
33 Adrenergic alpha-Agonists Phase 4
34 Hypnotics and Sedatives Phase 4
35 Sodium Channel Blockers Phase 4
36 Diuretics, Potassium Sparing Phase 4
37 Sympatholytics Phase 4
38 Peripheral Nervous System Agents Phase 4
39 Central Nervous System Depressants Phase 4
40 Anesthetics Phase 4
41 Anesthetics, Local Phase 4
42
Galantamine Approved Phase 3 357-70-0 9651
43
Clonidine Approved Phase 3 4205-90-7 2803
44
Lofexidine Approved, Investigational Phase 3 31036-80-3 30668
45
Bisoprolol Approved Phase 3 66722-44-9 2405
46
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029
47
Ofloxacin Approved Phase 3 82419-36-1 4583
48
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
49
Cephalexin Approved, Investigational, Vet_approved Phase 3 15686-71-2 27447
50
Polymyxin B Approved, Vet_approved Phase 3 1404-26-8

Interventional clinical trials:

(show top 50) (show all 106)
# 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 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®)
7 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
8 A Pilot and Feasibility Study to Determine if a Common Atrial Fibrillation Risk Locus Modulates Differential Response to Antiarrhythmic Drugs Recruiting NCT02347111 Phase 4 Flecainide;Sotalol
9 Peripheral Nerve Blocks for Major Lower Extremity Amputations Not yet recruiting NCT03174782 Phase 4 Bupivacaine;Saline Solution
10 VIRTUE: Virtual Clinic Pacemaker Follow-up Terminated NCT00475124 Phase 4
11 CArdiac Sarcoidosis Response TO steRoids (CASTOR) Trial Withdrawn NCT01210677 Phase 4 Prednisone
12 Topical Timolol for the Treatment of Benign Vascular Periocular Lesions Withdrawn NCT01250457 Phase 4 topical Timolol
13 Pilot Double-Blind Placebo Controlled Trial of Levothyroxine in Pregnant Systemic Lupus Erythematosus (SLE) Patients With Autoimmune Thyroid Disease Withdrawn NCT01276782 Phase 4 Levothyroxine
14 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
15 Placebo-Controlled Evaluation of Galantamine in the Treatment of Alzheimer's Disease: A Cardiac Safety Study. Completed NCT00309725 Phase 3 galantamine
16 Perioperative Infusion of Dexmedetomidine Improves Outcomes of Cardiovascular Surgery Completed NCT02237495 Phase 2, Phase 3 dexmedetomidine;placebo
17 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
18 Effectiveness of Peripheral Dexmedetomidine for Bilateral Third Molar Surgery Under General Anaesthesia Completed NCT00971178 Phase 3 local dexmedetomidine;Peripheral normal saline;IV dexmedetomidine
19 A Randomized Controlled Trial of Prophylactic Pulmonary Vein Isolation as Adjunct to Coronary Artery Bypass Grafting Completed NCT00338715 Phase 3
20 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
21 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
22 Lidocaine Infusion for Chronic Pain in Opioid Dependent Patients Active, not recruiting NCT02219321 Phase 3 Lidocaine infusion;Saline infusion
23 MADIT ASIA Cardiac Resynchronization Trial (MADIT-ASIA) Terminated NCT01872234 Phase 3
24 A Phase 3 Study of Carvedilol vs Variceal Band Ligation vs Combination Therapy for Primary Prophylaxis of Variceal Bleeding Withdrawn NCT02066649 Phase 3 Carvedilol
25 "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
26 Prevention of Early Readmission in Elderly Congestive Heart Failure Patients Completed NCT00000475 Phase 2
27 Aminophylline in Bradyasystolic Cardiac Arrest: A Randomized Placebo-Controlled Trial Completed NCT00312273 Phase 2 Aminophylline (250mg IV +/- a second dose of 250mg IV)
28 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
29 Preventive Approach to Congenital Heart Block With Hydroxychloroquine Recruiting NCT01379573 Phase 2 Hydroxychloroquine
30 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
31 Micra Atrial Tracking Using a Ventricular Accelerometer Study Completed NCT03157297 Phase 1
32 Utilization of Confocal Microscopy During Cardiac Surgery Completed NCT03189134 Phase 1 Fluorescite
33 Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol Terminated NCT01533376 Phase 1 Timolol;Preservative free artificial tear gel.
34 Congenital or Idiopathic Complete Right Bundle Branch Block: Physiological Significance and Molecular Characterization Unknown status NCT00173342
35 Clinical Profile of Patients With Pulmonary Hypertension Due to Lung Diseases ( Single Center Experience) Unknown status NCT02774928
36 Observation of ImageReady™ MR Conditional Pacing System in China Unknown status NCT02636712
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 Development and Prevention of Severe Heart Disease in Systemic Sclerosis Unknown status NCT01829126
42 Peripheral Nerve Conduction Block Using a High Frequency Alternating Stimulation: A Pilot Study Unknown status NCT03169049
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 Cohort Description of Younger With AV-block Unknown status NCT03024047
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 Post-Operative Pain After Laparoscopic Ventral Hernia Repair, Impact of Mesh Impregnation With Bupivacaine Solution vs. Normal Saline Solution Unknown status NCT03035617 Bupivacaine
48 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
49 Postoperative Right Bundle Branch Block - Long-term Effect on the Right Ventricle in Children Operated for Ventricular Septal Defect Completed NCT01480908
50 Prevalence of Chagas Disease in Immigrant Patients With Conduction Abnormalities on Electrocardiogram Completed NCT00453700

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

Inferred drug relations via UMLS 72 / NDF-RT 51 :


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 1b 29 TRPM4

Anatomical Context for Progressive Familial Heart Block, Type Ib

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

41
Heart, Testes, Lung, Endothelial, Kidney, Brain, Thyroid

Publications for Progressive Familial Heart Block, Type Ib

Articles related to Progressive Familial Heart Block, Type Ib:

(show top 50) (show all 3263)
# Title Authors PMID Year
1
Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbances. 38 8 71
21887725 2012
2
Progressive familial heart block--two types. 38 8 71
897853 1977
3
Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease. 8 71
20562447 2010
4
Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I. 8 71
19726882 2009
5
Hereditary bundle branch system defect: survey of a family with four affected generations. 8 71
619595 1978
6
Hereditary bundle branch defect: right bundle branch blocks of different causes have different morphologic characteristics. 38 8
9023172 1997
7
An isolated cardiac conduction disease maps to chromosome 19q. 38 8
7554120 1995
8
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). 8
11896454 2002
9
Gene for progressive familial heart block type I maps to chromosome 19q13. 8
7882468 1995
10
Progressive familial heart block (type I). A follow-up study after 10 years. 8
3347879 1988
11
Progressive familial heart block. Part II. Clinical and ECG confirmation of progression--report on 4 cases. 8
3750143 1986
12
Familial fascicular block: histologic features of Lev's disease. 8
4003252 1985
13
ECG clues for false ST-segment elevation myocardial infarction activations. 38
30694822 2019
14
Trastuzumab-Induced Cardiomyopathy and Intermittent Left Bundle Branch Block. 38
31413780 2019
15
Conduction Abnormalities and Long-Term Mortality Following Septal Myectomy in Patients With Obstructive Hypertrophic Cardiomyopathy. 38
31370956 2019
16
Clinical implications of electrocardiographic bundle branch block in primary care. 38
31129608 2019
17
Heartbeat: pacer risk in patients with right bundle branch block. 38
31308094 2019
18
Isolated right bundle branch block in asymptomatic patients: not inconsequential as previously thought? 38
31129610 2019
19
J-Wave Elevation in the Inferior Leads Predicts Lethal Ventricular Arrhythmia Initiated by Premature Ventricular Contractions With Right Bundle Branch Block and Superior Axis. 38
31391386 2019
20
Electrical parameters with His bundle pacing: considerations for automated programming. 38
31377421 2019
21
Ischemic ventricular tachycardia from below the posteromedial papillary muscle, a particular entity: Substrate characterization and challenges for catheter ablation. 38
31085181 2019
22
Variation in a Left Ventricle-Specific Hand1 Enhancer Impairs GATA Transcription Factor Binding and Disrupts Conduction System Development and Function. 38
31366290 2019
23
Transient high-degree right bundle branch block masking the type 1 Brugada ECG pattern associated with possible transient early repolarization syndrome. 38
31343106 2019
24
Right bundle branch block: Prevalence, incidence, and cardiovascular morbidity and mortality in the general population. 38
31339387 2019
25
Prenatal diagnosis of a bundle branch block based on the fetal ECG. 38
31266761 2019
26
Cardiac conduction abnormalities associated with pacemaker implantation after transcatheter aortic valve replacement. 38
30977144 2019
27
Interesting case of narrow QRS tachycardia. What is the mechanism? 38
31037743 2019
28
The characteristics of the electrocardiogram and the intracardiac electrogram in left bundle branch pacing. 38
31094058 2019
29
Prognostic Implication of Ventricular Conduction Disturbance Pattern in Hospitalized Patients with Acute Heart Failure Syndrome. 38
30891964 2019
30
A case of elusive cardiac dysrhythmia in high-risk syncope. 38
31387810 2019
31
Predicting the outcome of acute pulmonary embolism by dynamic changes of the QRS complex in lead V1. 38
31203174 2019
32
Transient left anterior and septal fascicular blocks after self-expandable percutaneous transcatheter aortic valve implantation. 38
29675905 2019
33
HAND1 loss-of-function within the embryonic myocardium reveals survivable congenital cardiac defects and adult heart failure. 38
31286141 2019
34
Electrocardiographic and Electrophysiologic Characteristics of Idiopathic Ventricular Arrhythmias Originating From the Basal Inferoseptal Left Ventricle. 38
31320012 2019
35
Effect of Left Ventricular Conduction Delay on All-Cause and Cardiovascular Mortality (from the PRECISION Trial). 38
31395295 2019
36
Cardiac Resynchronization Defibrillator Therapy for Nonspecific Intraventricular Conduction Delay Versus Right Bundle Branch Block. 38
31221257 2019
37
Complete atrioventricular block caused by pulmonary embolism: A case report and review of literature. 38
31248624 2019
38
Use of Cardiac Resynchronization Therapy Defibrillator in US Hospitals. 38
31215970 2019
39
ECG anomaly class identification using LSTM and error profile modeling. 38
31030180 2019
40
Late Cardiac Complications of Sulfur Mustard Poisoning in 38 Iranian Veterans. 38
30242562 2019
41
Congenital myopathies are mainly associated with a mild cardiac phenotype. 38
30874888 2019
42
Pacemaker Dependency after Transcatheter Aortic Valve Implantation: Incidence, Predictors and Long-term outcomes. 38
31217147 2019
43
Prognostic Value of Electrocardiography in Elderly Patients with Acute Pulmonary Embolism. 38
31247179 2019
44
Outcomes of Acute Conduction Abnormalities Following Transcatheter Aortic Valve Implantation With a Balloon Expandable Valve and Predictors of Delayed Conduction System Abnormalities in Follow-up. 38
30922540 2019
45
Association of Newly Developed Right Bundle Branch Block with Graft Rejection Following Heart Transplantation. 38
31016903 2019
46
Interference dissociation during a baseline complete left bundle-branch block with advanced right bundle-branch block. 38
30974222 2019
47
Diagnosis of right bundle branch block: a concordance study. 38
31060516 2019
48
New ECG criteria for differential diagnosis of wide QRS complex tachycardias with right bundle branch block pattern. 38
31094481 2019
49
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. 38
31062927 2019
50
Ambulatory Rhythm Monitoring to Detect Late High-Grade Atrioventricular Block Following Transcatheter Aortic Valve Replacement. 38
31118148 2019

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 133)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TRPM4 NM_017636.4(TRPM4): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs267607142 19:49661142-49661142 19:49157885-49157885
2 TRPM4 NM_017636.4(TRPM4): c.490C> T (p.Arg164Trp) single nucleotide variant Pathogenic rs387907216 19:49671558-49671558 19:49168301-49168301
3 TRPM4 NM_017636.4(TRPM4): c.2741A> G (p.Lys914Arg) single nucleotide variant Pathogenic rs172151858 19:49703652-49703652 19:49200395-49200395
4 TRPM4 NM_017636.4(TRPM4): c.2531G> A (p.Gly844Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs200038418 19:49700017-49700017 19:49196760-49196760
5 TRPM4 NM_017636.4(TRPM4): c.1744G> A (p.Gly582Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs172149856 19:49691898-49691898 19:49188641-49188641
6 TRPM4 NM_017636.4(TRPM4): c.1294G> A (p.Ala432Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201907325 19:49685865-49685865 19:49182608-49182608
7 TRPM4 NM_017636.4(TRPM4): c.308A> G (p.Tyr103Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs144781529 19:49671214-49671214 19:49167957-49167957
8 TRPM4 NM_017636.4(TRPM4): c.1150+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200132598 19:49675366-49675366 19:49172109-49172109
9 TRPM4 NM_017636.4(TRPM4): c.2674C> T (p.Arg892Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147854826 19:49703585-49703585 19:49200328-49200328
10 TRPM4 NM_017636.4(TRPM4): c.24+6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs767900879 19:49661153-49661153 19:49157896-49157896
11 TRPM4 NM_017636.4(TRPM4): c.2254C> T (p.Gln752Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs769917929 19:49699740-49699740 19:49196483-49196483
12 TRPM4 NM_017636.4(TRPM4): c.3073G> A (p.Val1025Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs186822052 19:49705340-49705340 19:49202083-49202083
13 TRPM4 NM_017636.4(TRPM4): c.1459_1494del (p.Lys487_Leu498del) deletion Conflicting interpretations of pathogenicity rs878855029 19:49686030-49686065 19:49182773-49182808
14 TRPM4 NM_017636.4(TRPM4): c.1575G> A (p.Trp525Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs71352737 19:49686146-49686146 19:49182889-49182889
15 TRPM4 NM_017636.4(TRPM4): c.2740A> T (p.Lys914Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs140799936 19:49703651-49703651 19:49200394-49200394
16 TRPM4 NM_017636.4(TRPM4): c.1368C> G (p.Thr456=) single nucleotide variant Conflicting interpretations of pathogenicity rs56118173 19:49685939-49685939 19:49182682-49182682
17 TRPM4 NM_017636.4(TRPM4): c.1242T> C (p.Phe414=) single nucleotide variant Conflicting interpretations of pathogenicity rs200633475 19:49684697-49684697 19:49181440-49181440
18 TRPM4 NM_017636.4(TRPM4): c.483C> T (p.Gly161=) single nucleotide variant Uncertain significance rs147157308 19:49671551-49671551 19:49168294-49168294
19 TRPM4 NM_017636.4(TRPM4): c.721G> A (p.Gly241Ser) single nucleotide variant Uncertain significance rs886054577 19:49671918-49671918 19:49168661-49168661
20 TRPM4 NM_017636.4(TRPM4): c.491G> A (p.Arg164Gln) single nucleotide variant Uncertain significance rs774677078 19:49671559-49671559 19:49168302-49168302
21 TRPM4 NM_017636.4(TRPM4): c.2908C> T (p.Pro970Ser) single nucleotide variant Uncertain significance rs172152859 19:49703997-49703997 19:49200740-49200740
22 TRPM4 NM_017636.4(TRPM4): c.1003A> G (p.Ile335Val) single nucleotide variant Uncertain significance rs758151540 19:49674979-49674979 19:49171722-49171722
23 TRPM4 NM_017636.4(TRPM4): c.11C> G (p.Pro4Arg) single nucleotide variant Uncertain significance 19:49661134-49661134 19:49157877-49157877
24 TRPM4 NM_017636.4(TRPM4): c.2843C> G (p.Thr948Arg) single nucleotide variant Uncertain significance 19:49703932-49703932 19:49200675-49200675
25 TRPM4 NM_017636.4(TRPM4): c.2904C> G (p.Tyr968Ter) single nucleotide variant Uncertain significance 19:49703993-49703993 19:49200736-49200736
26 TRPM4 NM_017636.4(TRPM4): c.3323A> G (p.His1108Arg) single nucleotide variant Uncertain significance 19:49713657-49713657 19:49210400-49210400
27 TRPM4 NM_017636.4(TRPM4): c.823C> T (p.Leu275Phe) single nucleotide variant Uncertain significance 19:49674640-49674640 19:49171383-49171383
28 TRPM4 NM_017636.4(TRPM4): c.2575_2580del (p.Tyr859_Leu860del) deletion Uncertain significance 19:49700061-49700066 19:49196804-49196809
29 TRPM4 NM_017636.4(TRPM4): c.194C> T (p.Ala65Val) single nucleotide variant Uncertain significance 19:49669399-49669399 19:49166142-49166142
30 TRPM4 NM_017636.4(TRPM4): c.856A> G (p.Thr286Ala) single nucleotide variant Uncertain significance 19:49674673-49674673 19:49171416-49171416
31 TRPM4 NM_017636.4(TRPM4): c.935C> T (p.Ala312Val) single nucleotide variant Uncertain significance 19:49674911-49674911 19:49171654-49171654
32 TRPM4 NM_017636.4(TRPM4): c.1687_1689CTT[3] (p.Leu564dup) short repeat Uncertain significance 19:49686416-49686418 19:49183159-49183161
33 TRPM4 NM_017636.4(TRPM4): c.3462-9C> A single nucleotide variant Uncertain significance 19:49714263-49714263 19:49211006-49211006
34 TRPM4 NM_017636.4(TRPM4): c.344del (p.Pro115fs) deletion Uncertain significance 19:49671246-49671247 19:49167993-49167993
35 TRPM4 NM_017636.4(TRPM4): c.1050+1G> A single nucleotide variant Uncertain significance 19:49675027-49675027 19:49171770-49171770
36 TRPM4 NM_017636.4(TRPM4): c.2645+1G> A single nucleotide variant Uncertain significance 19:49700132-49700132 19:49196875-49196875
37 TRPM4 NM_017636.4(TRPM4): c.3328+1G> A single nucleotide variant Uncertain significance 19:49713663-49713663 19:49210406-49210406
38 TRPM4 NM_017636.4(TRPM4): c.418C> T (p.Arg140Cys) single nucleotide variant Uncertain significance 19:49671324-49671324 19:49168067-49168067
39 TRPM4 NM_017636.4(TRPM4): c.590G> A (p.Arg197Lys) single nucleotide variant Uncertain significance 19:49671658-49671658 19:49168401-49168401
40 TRPM4 NM_017636.4(TRPM4): c.634C> T (p.Arg212Trp) single nucleotide variant Uncertain significance 19:49671831-49671831 19:49168574-49168574
41 TRPM4 NM_017636.4(TRPM4): c.743G> A (p.Arg248His) single nucleotide variant Uncertain significance 19:49671940-49671940 19:49168683-49168683
42 TRPM4 NM_017636.4(TRPM4): c.970G> T (p.Gly324Trp) single nucleotide variant Uncertain significance 19:49674946-49674946 19:49171689-49171689
43 TRPM4 NM_017636.4(TRPM4): c.982C> T (p.Gln328Ter) single nucleotide variant Uncertain significance 19:49674958-49674958 19:49171701-49171701
44 TRPM4 NM_017636.4(TRPM4): c.1010G> A (p.Arg337His) single nucleotide variant Uncertain significance 19:49674986-49674986 19:49171729-49171729
45 TRPM4 NM_017636.4(TRPM4): c.1163C> T (p.Ser388Leu) single nucleotide variant Uncertain significance 19:49684618-49684618 19:49181361-49181361
46 TRPM4 NM_017636.4(TRPM4): c.1308C> A (p.Asp436Glu) single nucleotide variant Uncertain significance 19:49685879-49685879 19:49182622-49182622
47 TRPM4 NM_017636.4(TRPM4): c.1611G> A (p.Met537Ile) single nucleotide variant Uncertain significance 19:49686337-49686337 19:49183080-49183080
48 TRPM4 NM_017636.4(TRPM4): c.1697C> T (p.Ala566Val) single nucleotide variant Uncertain significance 19:49686423-49686423 19:49183166-49183166
49 TRPM4 NM_017636.4(TRPM4): c.1783C> G (p.Leu595Val) single nucleotide variant Uncertain significance 19:49691937-49691937 19:49188680-49188680
50 TRPM4 NM_017636.4(TRPM4): c.2289C> G (p.Cys763Trp) single nucleotide variant Uncertain significance 19:49699775-49699775 19:49196518-49196518

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

74
# 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

GO Terms for Progressive Familial Heart Block, Type Ib

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
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....