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 57 13 70
Progressive Familial Heart Block Type Ib 12 72 29 6 15
Pfhb1b 57 12 20 72
Pfhbib 57 72
Heart Block, Familial, Progressive, Type 1b 39
Progressive Familial Heart Block Type 1b 20
Heart Block Progressive Familial Type 1b 20
Progressive Familial Heart Block 1b 72
Right Bundle Branch Block 70
Right-Bundle Branch Block 72
Cardiac Conduction Block 72
Heart Block 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 604559
OMIM Phenotypic Series 57 PS113900
MeSH 44 D002037
MedGen 41 C1970298
UMLS 70 C0018794 C0085615 C1970298

Summaries for Progressive Familial Heart Block, Type Ib

UniProtKB/Swiss-Prot : 72 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 and right bundle branch 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 Ofloxacin and Polymyxin B have been mentioned in the context of this disorder. Affiliated tissues include heart, atrioventricular node and brain, and related phenotypes are prolonged qt interval and atrioventricular block

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 139)
# Related Disease Score Top Affiliating Genes
1 progressive familial heart block 29.8 TRPM4 HRC
2 right bundle branch block 12.1
3 progressive familial heart block, type ia 11.9
4 brugada syndrome 1 11.7
5 brugada syndrome 11.6
6 brugada syndrome 2 11.4
7 brugada syndrome 3 11.4
8 brugada syndrome 4 11.4
9 brugada syndrome 5 11.4
10 brugada syndrome 6 11.4
11 brugada syndrome 7 11.4
12 brugada syndrome 8 11.4
13 brugada syndrome 9 11.4
14 kearns-sayre syndrome 11.1
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 myocardial infarction 10.8
20 tetralogy of fallot 10.8
21 ventricular septal defect 10.8
22 syncope 10.8
23 atrial standstill 1 10.7
24 congestive heart failure 10.7
25 wolff-parkinson-white syndrome 10.7
26 heart disease 10.7
27 atrial heart septal defect 10.6
28 ischemia 10.6
29 arrhythmogenic right ventricular cardiomyopathy 10.6
30 cardiogenic shock 10.6
31 anteroseptal myocardial infarction 10.5
32 pulmonary embolism 10.5
33 atrioventricular dissociation 10.5
34 second-degree atrioventricular block 10.5
35 atrial fibrillation 10.5
36 hypertrophic cardiomyopathy 10.5
37 posterior myocardial infarction 10.5
38 inferior myocardial infarction 10.5
39 aneurysm 10.5
40 cardiac arrest 10.4
41 chagas disease 10.4
42 dilated cardiomyopathy 10.4
43 atrial septal aneurysm 10.4
44 coronary heart disease 1 10.4
45 early repolarization associated with ventricular fibrillation 10.4
46 lipoprotein quantitative trait locus 10.4
47 angina pectoris 10.4
48 pulmonary hypertension 10.4
49 rheumatic heart disease 10.4
50 heart valve disease 10.4

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 prolonged qt interval 31 HP:0001657
2 atrioventricular block 31 HP:0001678
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®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
prolonged qt interval
syncope
bradycardia
cardiac conduction defects
short pr interval
more

Clinical features from OMIM®:

604559 (Updated 05-Apr-2021)

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 all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ofloxacin Approved Phase 3 82419-36-1 4583
2
Polymyxin B Approved, Vet_approved Phase 3 1404-26-8
3
Cephalexin Approved, Investigational, Vet_approved Phase 3 15686-71-2 27447
4
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029
5
Bacitracin Approved, Vet_approved Phase 3 1405-87-4 10909430 439542
6
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
7 Antibiotics, Antitubercular Phase 3
8 Cytochrome P-450 Enzyme Inhibitors Phase 3
9 Polymyxins Phase 3
10 Anti-Bacterial Agents Phase 3
11 Clindamycin phosphate Phase 3
12 Anti-Infective Agents, Local Phase 3
13 Clindamycin palmitate Phase 3
14 Anti-Infective Agents Phase 3
15
Hydroxychloroquine Approved Phase 2 118-42-3 3652
16 Immunoglobulins Phase 2
17 Antibodies Phase 2
18 Immunoglobulins, Intravenous Phase 2
19 Autoantibodies Phase 2
20 Antimalarials Phase 2
21 Antirheumatic Agents Phase 2
22 Antiparasitic Agents Phase 2
23 Antiprotozoal Agents Phase 2
24
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
25
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
26
Imidacloprid Vet_approved 105827-78-9 86418
27 Angiotensin-Converting Enzyme Inhibitors
28 calcium channel blockers
29 Calcium, Dietary
30 Immunologic Factors Early Phase 1
31 gamma-Globulins Early Phase 1
32 Rho(D) Immune Globulin Early Phase 1
33 Gastrointestinal Agents
34 glucocorticoids
35 Hormone Antagonists
36 Antiemetics
37 Hormones
38 Antineoplastic Agents, Hormonal
39
protease inhibitors
40 BB 1101
41 Anti-Inflammatory Agents
42 HIV Protease Inhibitors
43
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 49)
# Name Status NCT ID Phase Drugs
1 Syncope: Pacing or Recording in the Later Years (SPRITELY) Completed NCT01423994 Phase 4
2 Analyse Der Unterschiede Zwischen Aktiv-fixierenden Und Passiv-fixierenden Stimulations-Elektroden Hinsichtlich Implantationsdauer Und Elektrischer Parameter Completed NCT00180557 Phase 4
3 VIRTUE: Virtual Clinic Pacemaker Follow-up Terminated NCT00475124 Phase 4
4 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
5 Preventive Approach to Congenital Heart Block With Hydroxychloroquine Completed NCT01379573 Phase 2 Hydroxychloroquine
6 Congenital or Idiopathic Complete Right Bundle Branch Block: Physiological Significance and Molecular Characterization Unknown status NCT00173342
7 Development and Prevention of Severe Heart Disease in Systemic Sclerosis Unknown status NCT01829126
8 Right Apical Versus Septal Pacing Trial Unknown status NCT00199498
9 Peripheral Nerve Conduction Block Using a High Frequency Alternating Stimulation: A Pilot Study Unknown status NCT03169049
10 Effects of Chronic Right Ventricular Pacing in Children With Advanced Atrioventricular Block Unknown status NCT01477658
11 Right Ventricular Lead Placement in a Pacemaker Population: Evaluation of Apical and Alternative Position - Right Pace Study Unknown status NCT01647490
12 Comparison of Holter With Leadless Patch Ambulatory Electrocardiographic Monitoring in Children Unknown status NCT03309956
13 Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms Unknown status NCT02881671
14 Cardiac Rhythm Disturbances in Hard-to-treat Epilepsy Patients Using Loop ECG Recorders Completed NCT03376087
15 Postoperative Right Bundle Branch Block - Long-term Effect on the Right Ventricle in Children Operated for Ventricular Septal Defect Completed NCT01480908
16 Study of Dexamethasone in Neonatal Lupus Congenital Heart Block; PRIDE (PR Interval and Dexamethasone Evaluation) in Congenital Heart Block Completed NCT00007358 Dexamethasone or other corticosteroid
17 A Single Center, Prospective, Pilot Study Examining the Evaluation of Exercise Capacity in Chronically RV Paced Children and Young Adults Completed NCT00374608
18 Preserve Registry: Prospective Registry of Pacemaker Patients Concerning Percentage of Right Ventricular Pacing, LVEF and NYHA Class Completed NCT00292539
19 Preventive IVIG Therapy for Congenital Heart Block (The PITCH Study) Completed NCT00460928 Early Phase 1 intravenous immune globulin (IVIG)
20 Clinical Observations of Automatic Algorithms for Cardiac Pacing Completed NCT00286858
21 Phase IV Long Term Observational Study of Patients Implanted With Medtronic CRDM Implantable Cardiac Devices Completed NCT00382525
22 Serial Evaluation of Left Bundle Branch Block; Role of New Imaging Techniques. Three-Dimensional Echocardiography, Tissue Doppler Imaging, and Magnetic Resonance Imaging Completed NCT00269659
23 Observation of ImageReady™ MR Conditional Pacing System in China Completed NCT02636712
24 Cardiac Resynchronization Therapy (CRT) Implant Strategy Using the Longest Electrical Delay for Non-left Bundle Branch Block Patients (ENHANCE CRT). A Prospective, Randomized, Postmarket, Pilot Study. Completed NCT01983293
25 A Pilot Study on the Effects of Digital Music Players on Implantable Cardioverter Defibrillators and Pacemakers in Pediatrics and Congenital Heart Disease Completed NCT00542854
26 Slow Heart Registry: A Prospective Observational Cohort Study of Fetal Immune-mediated High Degree Heart Block Recruiting NCT04559425 Dexamethasone
27 Bifocal Right Ventricular PAcing in Right Bundle Branch blocK and Heart Failure With Reduced Ejection Fraction Recruiting NCT03524001
28 Right Ventricular Septal Pacing in Patients With Right Bundle Branch Block and Heart Failure, a Pilot Clinical Trial (The SPARK Trial) Recruiting NCT02441101
29 Permanent Left Bundle Branch Area Pacing for Atrioventricular Block Recruiting NCT03851315
30 The Research Registry for Neonatal Lupus Recruiting NCT00074373
31 Direct HIS/LBB Pacing as an Alternative to Biventricular Pacing in Patients With Symptomatic Heart Failure Despite Optimal Medical Treatment and an ECG With a Typical Left Bundle Branch Block Pattern. Recruiting NCT04409119
32 Morphological and Functional Changes, Risk Stratification and Prognosis of Patients With Compete Left Bundle Branch Block Recruiting NCT03096678
33 Mapping and Pacing of the His Bundle for Heart Failure Patients With Left Bundle Branch Block Recruiting NCT03803995
34 Physiologic Pacing Registry Recruiting NCT03719040
35 Prediction of Heart-failure and Mortality by Echocardiographic Parameters and Machine Learning in Individuals With Left Bundle Branch Block Recruiting NCT04293471
36 Non-invasive Mapping Using Ultra-high Frequency Electrocardiography Recruiting NCT04537455
37 Evaluation of Conduction Disease After Trans-catheter Aortic Valve Replacement Recruiting NCT04489095
38 Accelerometer Sensing for Micra AV Study Recruiting NCT04245345
39 Evaluation of Mechanisms and Innovations in Cardiac Resynchronization Therapy Recruiting NCT04221763
40 Changes in Infranodal Conduction Times and New Onset Left Bundle Branch Block: Possible Predictors for High-grade AV Block Following Transcatheter Aortic Valve Replacement Recruiting NCT04128384
41 Heart Sounds at Home: Prospective Maternal Surveillance of SSA Positive Pregnancies Using a Hand-Held Fetal Heart Rate Monitor Active, not recruiting NCT02920346
42 Fluoroless Permanent HIS Bundle Pacing Utilizing Electro-anatomic Mapping Versus Conventional Implantation Enrolling by invitation NCT03903107
43 Patterns of Arrhythmias and Conduction Block in COVID-19 Patients and Its Relation to Myocardial Injury Detected by Cardiac Magnetic Resonance Not yet recruiting NCT04584411
44 Clinical, Structural and Mechanical Features in Patients With Left Bundle Branch Block: an Observational and Prospective Study. Not yet recruiting NCT04328649
45 Pacing Affects Cardiovascular Endpoints in Patients With Right Bundle-Branch Block (The PACE-RBBB Trial) Terminated NCT01169493
46 Impact of Septal Vs Apical Pacing on Right and Left Ventricular Performance Terminated NCT01798043
47 Correlation of Clinical Outcomes With ECG Findings in Patients With Left Bundle Branch Block Being Evaluated for Acute Coronary Syndrome - a Prospective Cohort Study Terminated NCT02283619
48 Rhythm Disturbances After Ventricular Septal Defects Terminated NCT00208624
49 Proof-of-concept Study to Assess Ventricular Activation Timing During Atrial Fibrillation, or Bundle Branch Block and Sinus Rhythm Terminated NCT02063191

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

Inferred drug relations via UMLS 70 / 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 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, Atrioventricular Node, Brain, Spinal Cord, Kidney, Myeloid, Endothelial

Publications for Progressive Familial Heart Block, Type Ib

Articles related to Progressive Familial Heart Block, Type Ib:

(show top 50) (show all 3518)
# Title Authors PMID Year
1
Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbances. 57 6 61
21887725 2012
2
Progressive familial heart block--two types. 61 57 6
897853 1977
3
Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease. 6 57
20562447 2010
4
Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I. 57 6
19726882 2009
5
Hereditary bundle branch system defect: survey of a family with four affected generations. 57 6
619595 1978
6
Hereditary bundle branch defect: right bundle branch blocks of different causes have different morphologic characteristics. 61 57
9023172 1997
7
An isolated cardiac conduction disease maps to chromosome 19q. 61 57
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). 57
11896454 2002
10
Gene for progressive familial heart block type I maps to chromosome 19q13. 57
7882468 1995
11
Progressive familial heart block (type I). A follow-up study after 10 years. 57
3347879 1988
12
Progressive familial heart block. Part II. Clinical and ECG confirmation of progression--report on 4 cases. 57
3750143 1986
13
Familial fascicular block: histologic features of Lev's disease. 57
4003252 1985
14
Cardiac conduction abnormalities in patients with degenerated bioprostheses undergoing transcatheter aortic valve-in-valve implantations and their impact on long-term outcomes. 61
33592238 2021
15
Transcatheter aortic valve replacement performed with selective telemetry monitoring: A prospective study. 61
33621627 2021
16
Case 288: Uhl Anomaly. 61
33750225 2021
17
Impact of Baseline Right Bundle Branch Block on Outcomes After Pulmonary Vein Isolation in Patients With Atrial Fibrillation. 61
33385350 2021
18
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 2021
19
Early and late post-operative arrhythmias after surgical myectomy: 45 years of follow-up. 61
33271205 2021
20
Epicardial adipose tissue predicted prolonged QTc interval in patients with arterial hypertension. 61
33183070 2021
21
Is the left bundle branch pacing a choice to conquer the right bundle branch block?-A case report. 61
32896950 2021
22
Alcohol-induced right bundle branch block is associated with a benign outcome in HOCM after alcohol septum ablation (ASA). 61
33772362 2021
23
Remote magnetic-guided ablation for three origins of idiopathic ventricular arrhythmias with right bundle branch block and superior axis. 61
33471947 2021
24
[Long-term outcome of 48 unoperated adult patients with Ebstein's anomaly]. 61
33706460 2021
25
Predicting need for pacemaker implantation early and late after transcatheter aortic valve implantation. 61
32857905 2021
26
Physiology-based electrocardiographic criteria for left bundle branch capture. 61
33677102 2021
27
Pathological findings of myocardium in a patient with cardiac conduction defect associated with an SCN5A mutation. 61
33651170 2021
28
Role of Provocable Brugada ECG Pattern in The Correct Risk Stratification for Major Arrhythmic Events. 61
33801474 2021
29
A 32-Year-Old Man Diagnosed with Type II Brugada Syndrome on Preoperative Electrocardiogram 1 Week Before Elective Tympanoplasty. 61
33737506 2021
30
Association between electrocardiographic features and mortality in COVID-19 patients. 61
33742501 2021
31
Predictors of permanent pacemaker insertion after TAVR: A systematic review and updated meta-analysis. 61
33682218 2021
32
Exploring the cause of conduction delays in patients with repaired Tetralogy of Fallot. 61
33751080 2021
33
The Footprints of Pacing Lead Position Using the 12-Lead Electrocardiograph. 61
33162365 2021
34
Automated detection of arrhythmia from electrocardiogram signal based on new convolutional encoded features with bidirectional long short-term memory network classifier. 61
33405209 2021
35
Predictors of pacemaker implantation after transcatheter aortic valve implantation according to kind of prosthesis and risk profile: a systematic review and contemporary meta-analysis. 61
33289527 2021
36
Clinical factors associated with the intraventricular conduction disturbances in Swiss middle-aged adults: The CoLaus|PsyCoLaus study. 61
33309760 2021
37
[Localization of ventricular premature contractions by 12-lead ECG]. 61
33533995 2021
38
ECG Changes in a Case of Posterior Myocardial Infarction in the Presence of Right Bundle Branch Block. 61
33728214 2021
39
Acute myocardial infarction with right bundle branch block at presentation: Prevalence and mortality. 61
33770645 2021
40
Right bundle branch block-type wide QRS complex tachycardia with a reversed R/S complex in lead V6: Development and validation of electrocardiographic differentiation criteria. 61
32927100 2021
41
In Hospital Outcomes of Patients With Right Bundle Branch Block and Anterior Wall ST-Segment Elevation Myocardial Infarction (From a Nationwide Study Using the National Inpatient Sample). 61
33147431 2021
42
A dual nodal response to the parahisian pacing and induction of the retrograde right bundle branch block maneuvers. 61
33664918 2021
43
How to Estimate QT Interval in Patients With Left or Right Bundle Branch Block: A Systematic Review. 61
33657070 2021
44
Periaortic Ventricular Tachycardias in Nonischemic Cardiomyopathy: Substrate and Electrocardiographic Correlations. 61
33417473 2021
45
Right bundle branch block ventricular tachycardia in arrhythmogenic right ventricular cardiomyopathy more commonly originates from the right ventricle: Criteria for identifying chamber of origin. 61
32889109 2021
46
Standard ECG for differential diagnosis between Anderson-Fabry disease and hypertrophic cardiomyopathy. 61
33563631 2021
47
Hybrid Transthoracic Periventricular Device Closure of Ventricular Septal Defects: Single- Center Experience. 61
33118345 2021
48
Belhassen Ventricular Tachycardia in a Child. 61
33654570 2021
49
A regularly irregular tachycardia with variable QRS morphologies - What is the mechanism? 61
33621799 2021
50
Catheter ablation of an antidromic atrioventricular reentrant tachycardia using a slow, decrementally conducting accessory pathway in the great cardiac vein. 61
33001504 2021

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 325)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPM4 NM_017636.4(TRPM4):c.19G>A (p.Glu7Lys) SNV Pathogenic 3770 rs267607142 GRCh37: 19:49661142-49661142
GRCh38: 19:49157885-49157885
2 TRPM4 NM_017636.4(TRPM4):c.490C>T (p.Arg164Trp) SNV Pathogenic 35488 rs387907216 GRCh37: 19:49671558-49671558
GRCh38: 19:49168301-49168301
3 TRPM4 NM_017636.4(TRPM4):c.2741A>G (p.Lys914Arg) SNV Pathogenic 35490 rs172151858 GRCh37: 19:49703652-49703652
GRCh38: 19:49200395-49200395
4 TRPM4 NM_017636.4(TRPM4):c.3031dup (p.Cys1011fs) Duplication Pathogenic 997516 GRCh37: 19:49705297-49705298
GRCh38: 19:49202040-49202041
5 TRPM4 NM_017636.4(TRPM4):c.2849_2850insACAC (p.Leu951fs) Insertion Pathogenic 1033847 GRCh37: 19:49703938-49703939
GRCh38: 19:49200681-49200682
6 TRPM4 NM_017636.4(TRPM4):c.2857del (p.Arg953fs) Deletion Pathogenic 1033848 GRCh37: 19:49703946-49703946
GRCh38: 19:49200689-49200689
7 TRPM4 NM_017636.4(TRPM4):c.2860_2861del (p.Pro954fs) Deletion Pathogenic 1033849 GRCh37: 19:49703949-49703950
GRCh38: 19:49200692-49200693
8 HRC , TRPM4 NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) SNV Conflicting interpretations of pathogenicity 35486 rs172149856 GRCh37: 19:49691898-49691898
GRCh38: 19:49188641-49188641
9 HRC , TRPM4 NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) SNV Conflicting interpretations of pathogenicity 35487 rs201907325 GRCh37: 19:49685865-49685865
GRCh38: 19:49182608-49182608
10 TRPM4 NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) SNV Conflicting interpretations of pathogenicity 241176 rs71352737 GRCh37: 19:49686146-49686146
GRCh38: 19:49182889-49182889
11 TRPM4 NM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys) SNV Conflicting interpretations of pathogenicity 222851 rs144781529 GRCh37: 19:49671214-49671214
GRCh38: 19:49167957-49167957
12 TRPM4 NM_017636.4(TRPM4):c.988G>A (p.Glu330Lys) SNV Conflicting interpretations of pathogenicity 329851 rs145771389 GRCh37: 19:49674964-49674964
GRCh38: 19:49171707-49171707
13 TRPM4 NM_017636.4(TRPM4):c.1368C>G (p.Thr456=) SNV Conflicting interpretations of pathogenicity 241173 rs56118173 GRCh37: 19:49685939-49685939
GRCh38: 19:49182682-49182682
14 TRPM4 NM_017636.4(TRPM4):c.870C>T (p.Asn290=) SNV Conflicting interpretations of pathogenicity 386319 rs141997826 GRCh37: 19:49674846-49674846
GRCh38: 19:49171589-49171589
15 TRPM4 NM_017636.4(TRPM4):c.1242T>C (p.Phe414=) SNV Conflicting interpretations of pathogenicity 329854 rs200633475 GRCh37: 19:49684697-49684697
GRCh38: 19:49181440-49181440
16 TRPM4 NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) SNV Conflicting interpretations of pathogenicity 381692 rs150391806 GRCh37: 19:49714497-49714497
GRCh38: 19:49211240-49211240
17 TRPM4 NM_017636.4(TRPM4):c.2561A>G (p.Gln854Arg) SNV Conflicting interpretations of pathogenicity 381691 rs172155862 GRCh37: 19:49700047-49700047
GRCh38: 19:49196790-49196790
18 TRPM4 NM_017636.4(TRPM4):c.2209G>A (p.Gly737Arg) SNV Conflicting interpretations of pathogenicity 468934 rs145847114 GRCh37: 19:49694029-49694029
GRCh38: 19:49190772-49190772
19 TRPM4 NM_017636.4(TRPM4):c.2254C>T (p.Gln752Ter) SNV Conflicting interpretations of pathogenicity 373748 rs769917929 GRCh37: 19:49699740-49699740
GRCh38: 19:49196483-49196483
20 TRPM4 NM_017636.4(TRPM4):c.2231A>T (p.Lys744Met) SNV Conflicting interpretations of pathogenicity 329862 rs569301210 GRCh37: 19:49699717-49699717
GRCh38: 19:49196460-49196460
21 TRPM4 NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys) SNV Conflicting interpretations of pathogenicity 329866 rs147854826 GRCh37: 19:49703585-49703585
GRCh38: 19:49200328-49200328
22 TRPM4 NM_017636.4(TRPM4):c.3489A>G (p.Gly1163=) SNV Conflicting interpretations of pathogenicity 415726 rs760190293 GRCh37: 19:49714299-49714299
GRCh38: 19:49211042-49211042
23 TRPM4 NM_017636.4(TRPM4):c.657C>T (p.Asp219=) SNV Conflicting interpretations of pathogenicity 468942 rs373953725 GRCh37: 19:49671854-49671854
GRCh38: 19:49168597-49168597
24 TRPM4 NM_017636.4(TRPM4):c.3377C>G (p.Ser1126Trp) SNV Conflicting interpretations of pathogenicity 697632 rs567938424 GRCh37: 19:49714015-49714015
GRCh38: 19:49210758-49210758
25 TRPM4 NM_017636.4(TRPM4):c.748C>T (p.Arg250Cys) SNV Conflicting interpretations of pathogenicity 329849 rs144208673 GRCh37: 19:49671945-49671945
GRCh38: 19:49168688-49168688
26 TRPM4 NM_017636.4(TRPM4):c.1874-9C>T SNV Conflicting interpretations of pathogenicity 698453 rs199805560 GRCh37: 19:49692194-49692194
GRCh38: 19:49188937-49188937
27 TRPM4 NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) SNV Conflicting interpretations of pathogenicity 35489 rs200038418 GRCh37: 19:49700017-49700017
GRCh38: 19:49196760-49196760
28 TRPM4 NM_017636.4(TRPM4):c.755G>A (p.Arg252His) SNV Conflicting interpretations of pathogenicity 241182 rs146564314 GRCh37: 19:49671952-49671952
GRCh38: 19:49168695-49168695
29 TRPM4 NM_017636.4(TRPM4):c.2133-9C>G SNV Uncertain significance 329859 rs530013543 GRCh37: 19:49693944-49693944
GRCh38: 19:49190687-49190687
30 TRPM4 NM_017636.4(TRPM4):c.2779-5C>T SNV Uncertain significance 329867 rs374639233 GRCh37: 19:49703863-49703863
GRCh38: 19:49200606-49200606
31 TRPM4 NM_017636.4(TRPM4):c.92+12G>A SNV Uncertain significance 329839 rs377431946 GRCh37: 19:49661528-49661528
GRCh38: 19:49158271-49158271
32 TRPM4 NM_017636.4(TRPM4):c.2085C>T (p.Leu695=) SNV Uncertain significance 329858 rs781191851 GRCh37: 19:49693530-49693530
GRCh38: 19:49190273-49190273
33 TRPM4 NM_017636.4(TRPM4):c.2154A>C (p.Thr718=) SNV Uncertain significance 893437 GRCh37: 19:49693974-49693974
GRCh38: 19:49190717-49190717
34 TRPM4 NM_017636.4(TRPM4):c.3366A>G (p.Leu1122=) SNV Uncertain significance 893466 GRCh37: 19:49714004-49714004
GRCh38: 19:49210747-49210747
35 TRPM4 NM_017636.4(TRPM4):c.2274C>G (p.Cys758Trp) SNV Uncertain significance 893740 GRCh37: 19:49699760-49699760
GRCh38: 19:49196503-49196503
36 TRPM4 NM_017636.4(TRPM4):c.2275T>G (p.Cys759Gly) SNV Uncertain significance 893741 GRCh37: 19:49699761-49699761
GRCh38: 19:49196504-49196504
37 TRPM4 NM_017636.4(TRPM4):c.2330G>A (p.Gly777Asp) SNV Uncertain significance 893742 GRCh37: 19:49699816-49699816
GRCh38: 19:49196559-49196559
38 TRPM4 NM_017636.4(TRPM4):c.2403G>T (p.Leu801=) SNV Uncertain significance 893743 GRCh37: 19:49699889-49699889
GRCh38: 19:49196632-49196632
39 TRPM4 NM_017636.4(TRPM4):c.2474T>C (p.Leu825Pro) SNV Uncertain significance 893744 GRCh37: 19:49699960-49699960
GRCh38: 19:49196703-49196703
40 TRPM4 NM_017636.4(TRPM4):c.3545G>A (p.Cys1182Tyr) SNV Uncertain significance 893768 GRCh37: 19:49714431-49714431
GRCh38: 19:49211174-49211174
41 TRPM4 NM_017636.4(TRPM4):c.*6G>A SNV Uncertain significance 893769 GRCh37: 19:49714761-49714761
GRCh38: 19:49211504-49211504
42 TRPM4 NM_017636.4(TRPM4):c.*15C>G SNV Uncertain significance 893770 GRCh37: 19:49714770-49714770
GRCh38: 19:49211513-49211513
43 TRPM4 NM_017636.4(TRPM4):c.*116G>C SNV Uncertain significance 893771 GRCh37: 19:49714871-49714871
GRCh38: 19:49211614-49211614
44 TRPM4 NM_017636.4(TRPM4):c.1006A>G (p.Arg336Gly) SNV Uncertain significance 894243 GRCh37: 19:49674982-49674982
GRCh38: 19:49171725-49171725
45 TRPM4 NM_017636.4(TRPM4):c.1466C>T (p.Pro489Leu) SNV Uncertain significance 894244 GRCh37: 19:49686037-49686037
GRCh38: 19:49182780-49182780
46 TRPM4 NM_017636.4(TRPM4):c.272T>C (p.Leu91Pro) SNV Uncertain significance 894616 GRCh37: 19:49671178-49671178
GRCh38: 19:49167921-49167921
47 TRPM4 NM_017636.4(TRPM4):c.1495C>T (p.Arg499Trp) SNV Uncertain significance 894639 GRCh37: 19:49686066-49686066
GRCh38: 19:49182809-49182809
48 TRPM4 NM_017636.4(TRPM4):c.1514A>G (p.His505Arg) SNV Uncertain significance 894640 GRCh37: 19:49686085-49686085
GRCh38: 19:49182828-49182828
49 TRPM4 NM_017636.4(TRPM4):c.1727T>C (p.Met576Thr) SNV Uncertain significance 894641 GRCh37: 19:49686453-49686453
GRCh38: 19:49183196-49183196
50 TRPM4 NM_017636.4(TRPM4):c.2529G>C (p.Gly843=) SNV Uncertain significance 894660 GRCh37: 19:49700015-49700015
GRCh38: 19:49196758-49196758

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

72
# 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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