HBBD
MCID: PRG126
MIFTS: 51

Progressive Familial Heart Block (HBBD)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Progressive Familial Heart Block

MalaCards integrated aliases for Progressive Familial Heart Block:

Name: Progressive Familial Heart Block 12 25 29 6 15
Hereditary Bundle Branch System Defect 25 73
Progressive Cardiac Conduction Defect 25 37
Hereditary Bundle Branch Defect 12 25
Familial Progressive Heart Block 12
Familial Lev-Lenegre Disease 12
Familial Lenegre Disease 12
Familial Lev Disease 12
Bundle Branch Block 25
Lenegre Lev Disease 25
Lev-Lenègre Disease 25
Bundle-Branch Block 73
Familial Pccd 12
Lev's Disease 25
Lev Syndrome 25
Pccd 25
Hbbd 25
Pfhb 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111073
KEGG 37 H01263

Summaries for Progressive Familial Heart Block

Genetics Home Reference : 25 Progressive familial heart block is a genetic condition that alters the normal beating of the heart. A normal heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. These signals begin in a specialized cluster of cells called the sinoatrial node (the heart's natural pacemaker) located in the heart's upper chambers (the atria). From there, a group of cells called the atrioventricular node carries the electrical signals to another cluster of cells called the bundle of His. This bundle separates into multiple thin spindles called bundle branches, which carry electrical signals into the heart's lower chambers (the ventricles). Electrical impulses move from the sinoatrial node down to the bundle branches, stimulating a normal heartbeat in which the ventricles contract slightly later than the atria.

MalaCards based summary : Progressive Familial Heart Block, also known as hereditary bundle branch system defect, is related to right bundle branch block and progressive familial heart block, type ia, and has symptoms including dyspnea and syncopal episode. An important gene associated with Progressive Familial Heart Block is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Cardiac conduction and Aldosterone synthesis and secretion. The drugs Bisoprolol and Candesartan cilexetil have been mentioned in the context of this disorder. Affiliated tissues include heart, atrioventricular node and kidney, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.

Related Diseases for Progressive Familial Heart Block

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 130)
# Related Disease Score Top Affiliating Genes
1 right bundle branch block 34.2 SCN1B SCN5A TRPM4
2 progressive familial heart block, type ia 34.2 GJA5 SCN5A
3 brugada syndrome 32.4 SCN1B SCN5A TRPM4
4 ventricular fibrillation, paroxysmal familial, 1 32.3 DSP SCN5A TNNT2
5 atrioventricular block 31.9 SCN5A TRPM4
6 brugada syndrome 5 31.8 SCN1B SCN5A
7 familial progressive cardiac conduction defect 31.8 SCN1B SCN5A TRPM4
8 first-degree atrioventricular block 31.5 GJA5 SCN5A
9 cardiac conduction defect 30.7 DSP SCN5A
10 atrial fibrillation 30.5 GJA5 SCN1B SCN5A
11 arrhythmogenic right ventricular cardiomyopathy 30.4 DSP HRC SCN5A
12 heart disease 30.3 DSP GJA5 SCN5A TNNT2
13 hypertrophic cardiomyopathy 30.2 DSP SCN5A TNNT2
14 dilated cardiomyopathy 30.2 DSP GJA5 HRC SCN5A TNNT2
15 cardiac arrest 30.0 DSP SCN5A TNNT2
16 sinoatrial node disease 29.9 GJA5 SCN5A
17 long qt syndrome 29.8 SCN1B SCN5A TRPM4
18 left ventricular noncompaction 29.7 DSP SCN5A TNNT2
19 atrial standstill 1 29.6 DSP GJA5 SCN1B SCN5A TNNT2
20 progressive familial heart block, type ii 12.8
21 progressive familial heart block, type ib 12.7
22 bundle branch block, familial isolated complete right 12.5
23 left bundle branch hemiblock 12.3
24 brugada syndrome 1 12.0
25 wolff-parkinson-white syndrome 11.8
26 arrhythmogenic right ventricular dysplasia, familial, 1 11.3
27 heart-hand syndrome, spanish type 11.3
28 brugada syndrome 2 11.3
29 brugada syndrome 3 11.3
30 brugada syndrome 4 11.3
31 brugada syndrome 6 11.3
32 brugada syndrome 7 11.3
33 brugada syndrome 8 11.3
34 brugada syndrome 9 11.3
35 myocardial infarction 11.1
36 second-degree atrioventricular block 11.0
37 acute myocardial infarction 10.9
38 arteries, anomalies of 10.8
39 coronary artery anomaly 10.8
40 ischemia 10.7
41 congestive heart failure 10.6
42 tetralogy of fallot 10.5
43 ventricular septal defect 10.5
44 inferior myocardial infarction 10.5
45 syncope 10.5
46 pulmonary embolism 10.4
47 anteroseptal myocardial infarction 10.3
48 dextrocardia 10.3
49 atrial heart septal defect 10.3
50 diabetes mellitus 10.2

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



Diseases related to Progressive Familial Heart Block

Symptoms & Phenotypes for Progressive Familial Heart Block

UMLS symptoms related to Progressive Familial Heart Block:


dyspnea, syncopal episode

GenomeRNAi Phenotypes related to Progressive Familial Heart Block according to GeneCards Suite gene sharing:

26 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.8 GJA5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.8 GJA5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.8 TRPM4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.8 SCN5A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.8 TRPM4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.8 TRPM4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.8 GJA5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.8 GJA5 SCN5A TRPM4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.8 GJA5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.8 SCN5A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.8 TRPM4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.8 SCN5A TRPM4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.8 TRPM4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.8 GJA5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.8 TRPM4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.8 TRPM4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.8 SCN5A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.8 GJA5
19 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.8 SCN5A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.8 GJA5 TRPM4
21 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.8 SCN5A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.8 SCN5A
23 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.8 TRPM4
24 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.8 TRPM4
25 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.8 SCN5A
26 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.8 SCN5A
27 Effect on mitosis GR00257-A-2 9.13 GJA5 SCN1B SCN5A

MGI Mouse Phenotypes related to Progressive Familial Heart Block:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 DSP GJA5 SCN5A TNNT2 TRPM4
2 muscle MP:0005369 8.92 DSP GJA5 SCN5A TNNT2

Drugs & Therapeutics for Progressive Familial Heart Block

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

(show top 50) (show all 225)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bisoprolol Approved Phase 4 66722-44-9 2405
2
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
3
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
4
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
5
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
6
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
7
Ramipril Approved Phase 4 87333-19-5 5362129
8
Captopril Approved Phase 4 62571-86-2 44093
9
Nebivolol Approved, Investigational Phase 4 99200-09-6, 152520-56-4, 118457-14-0 71301
10
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
11
Eplerenone Approved Phase 4 107724-20-9 443872 150310
12
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
13
Enalaprilat Approved Phase 4 76420-72-9 6917719
14
Lithium carbonate Approved Phase 4 554-13-2
15
Aripiprazole Approved, Investigational Phase 4,Phase 3 129722-12-9 60795
16
Valproic Acid Approved, Investigational Phase 4 99-66-1 3121
17
Everolimus Approved Phase 4,Phase 3,Not Applicable 159351-69-6 6442177
18
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
19
Ticlopidine Approved Phase 4,Phase 3 55142-85-3 5472
20
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-78-2 2244
21
Sirolimus Approved, Investigational Phase 4,Phase 3,Not Applicable 53123-88-9 46835353 6436030 5284616
22
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Not Applicable 22916-47-8 4189
23
Clopidogrel Approved Phase 4,Phase 3,Phase 2 113665-84-2, 120202-66-6 60606
24
Chromium Approved Phase 4,Phase 3,Not Applicable 7440-47-3 27668
25
Ticagrelor Approved Phase 4 274693-27-5 9871419
26
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
27
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
28
Povidone Approved Phase 4 9003-39-8
29
Iodine Approved, Investigational Phase 4 7553-56-2 807
30
Povidone-iodine Approved Phase 4 25655-41-8
31
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 2713 9552079
32
Amlodipine Approved Phase 4 88150-42-9 2162
33
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
34
Candesartan Experimental Phase 4 139481-59-7 2541
35 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
36
protease inhibitors Phase 4,Phase 3,Phase 2
37 diuretics Phase 4
38 Mineralocorticoids Phase 4
39 Diuretics, Potassium Sparing Phase 4,Phase 2
40 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2
41 Adrenergic beta-Antagonists Phase 4
42 Adrenergic Antagonists Phase 4
43 Hormones Phase 4,Phase 3,Phase 2
44 Natriuretic Agents Phase 4,Phase 3,Not Applicable
45 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
46 Hormone Antagonists Phase 4,Phase 2
47 Angiotensin Receptor Antagonists Phase 4
48 Mineralocorticoid Receptor Antagonists Phase 4
49 Adrenergic Agents Phase 4,Phase 2,Phase 3
50 Angiotensin-Converting Enzyme Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 131)
# Name Status NCT ID Phase Drugs
1 Assessment of the Prognosis of Persistent Left Bundle Branch Block (LBBB)After Transcatheter Aortic Valve Implantation (TAVI ) by an Electrophysiological and Remote Monitoring Risk-adapted Algorithm Unknown status NCT02482844 Phase 4
2 Resynchronization in Paced Heart Failure Patients With Implantable Cardioverter Defibrillator (ICD) Indication Unknown status NCT01415024 Phase 4
3 Systematic Withdrawal of Neurohumoral Blocker Therapy in Optimally Responding CRT Patients Unknown status NCT02200822 Phase 4 beta blockers;RAAS blockers
4 Effect of Cardiac Resynchronization Therapy (CRT) on Skeletal Muscle Histology, Neuroendocrine Activation and Inflammatory Response Completed NCT01019915 Phase 4
5 High-sensitivity Troponin in Cardiac Surgery Completed NCT01913873 Phase 4
6 A Study of Aripiprazole (Abilify) in Patients With Bipolar Mania Completed NCT00261443 Phase 4 Lithium or Valproate with placebo (PBO);Lithium or Valproate with Aripiprazole
7 PROMUS Element Plus US Post-Approval Study Completed NCT01589978 Phase 4 Aspirin;P2Y12 antagonist
8 A Phase IV Study of the Safety and Efficacy of Aripiprazole in Combination With Lamotrigine in the Long-Term Maintenance Treatment of Patients With Bipolar I Disorder With A Recent Manic or Mixed Episode Completed NCT00277212 Phase 4 Lamotrigine + Aripiprazole;Lamotrigine + Placebo
9 Comparison of Alcoholic Chlorhexidine 2% Versus Alcoholic Povidone Iodine for Infections Prevention With Cardiac Resynchronization Therapy Device Implantation Recruiting NCT01841242 Phase 4 alcoholic povidone iodine;alcoholic chlorhexidine
10 Intervention for High-normal or Borderline-elevated Blood Pressure in Adults With Type 2 Diabetes Not yet recruiting NCT03264352 Phase 4 Allisartan Isoproxil;Amlodipine 5mg;Hydrochlorothiazide 25 mg;Allisartan Isoproxil placebo;Amlodipine placebo;Hydrochlorothiazide placebo
11 Cardiac Sarcoidosis Response To Steroids Trial Withdrawn NCT01210677 Phase 4 Prednisone
12 PCI With AXXESS Biolimus A9 Eluting Bifurcation Stent in Treating Coronary Artery Bifurcation Disease Withdrawn NCT02384629 Phase 4
13 Minimally Invasive Transthoracic Device Closure in Perimembranous Ventricular Septal Defect Unknown status NCT02644330 Phase 2, Phase 3
14 BENEFIT: Evaluation of the Use of Antiparasital Drug (Benznidazole) in the Treatment of Chronic Chagas' Disease Unknown status NCT00123916 Phase 3 Benznidazole;Placebo
15 Melatonin and Cardiac Outcome After Major Surgery Completed NCT00315926 Phase 2, Phase 3 Melatonin;Placebo
16 Levosimendan in Patients With Left Ventricular Systolic Dysfunction Undergoing Cardiac Surgery On Cardiopulmonary Bypass Completed NCT02025621 Phase 3 Levosimendan;Placebo
17 Effects of Titrated Oral Tolvaptan 15-60 mg Once Daily (QD) on Cognitive and Neurological Function in Elderly Hyponatremic Patients Completed NCT00550459 Phase 3 Tolvaptan;Placebo
18 The PLATINUM Clinical Trial to Assess the PROMUS Element Stent System for Treatment of De Novo Coronary Artery Lesions Completed NCT00823212 Phase 3 Aspirin;Thienopyridine
19 The PLATINUM Clinical Trial to Assess the PROMUS Element Stent System for Treatment of Long De Novo Coronary Artery Lesions (PLATINUM LL) Completed NCT01500434 Phase 3 Aspirin;Thienopyridine
20 Etiologic Treatment With Benznidazole in Adult Patients With Chronic Chagas Disease. A Randomized Clinical Trial Completed NCT02386358 Phase 3 Benznidazole;Placebo
21 Aripiprazole for Schizophrenia Outpatients Completing BMS Clinical Trials Completed NCT00239356 Phase 3 Aripiprazole
22 PROMUS Element Japan Small Vessel Trial Completed NCT01080261 Phase 3
23 A Prospective, Multi-center Trial to Assess an Everolimus-Eluting Coronary Stent System (PROMUS Element™) Completed NCT00824434 Phase 3
24 Study to Assess the Effect of Treatment With Bendamustine in Combination With Rituximab on QT Interval in Patients With Advanced Indolent Non-Hodgkin's Lymphoma (NHL) or Mantle Cell Lymphoma (MCL) Completed NCT01073163 Phase 3 Bendamustine;Rituximab
25 PLATINUM Trial to Assess the PROMUS Element Stent System for Treatment of De Novo Coronary Artery Lesions-Pharmacokinetics (PLATINUM PK) Completed NCT01510327 Phase 3 Aspirin;Thienopyridine
26 Long-term Safety Study for GSK573719 in Japanese Completed NCT01702363 Phase 3 GSK573719
27 Long-term Safety Study for GSK573719/GW642444 in Japanese Completed NCT01376388 Phase 3 GSK573719/GW642444 Inhalation Powder
28 Oral Aripiprazole Open-Label Rollover Study Completed NCT01001702 Phase 3 Aripiprazole
29 Prophylactic Topical Epinephrine to Reduce Bleeding in Transbronchial Lung Biopsies Recruiting NCT03126968 Phase 2, Phase 3 Topical epinephrine;Placebos
30 Triple-site Biventricular Stimulation in the Optimization of CRT Active, not recruiting NCT02350842 Phase 3
31 MADIT ASIA Cardiac Resynchronization Trial Terminated NCT01872234 Phase 3
32 Phase III Acute Coronary Syndrome Terminated NCT00831441 Phase 3 Apixaban;Placebo
33 Cardio‑Safety of Dihydroartemisinin‑Piperaquine and Pharmacokinetics of Piperaquine Amongst Pregnant Women in Tanzania Unknown status NCT02909712 Phase 2 sulfadoxine-pyrimethamine (SP);dihydroartemisinin-piperaquine (DHA-PQP)
34 The Effects of Different Clonidine Concentrations on Axillary Brachial Plexus Block With 1,5% Lidocaine Completed NCT01620112 Phase 2 high Clonidine concentration;low clonidine concentration;Lidocaine;Lidocaine 40 ml
35 Washington Study of Hemofiltration After Out-of-Hospital Cardiac Arrest Completed NCT01509040 Phase 1, Phase 2
36 Antifibrotic Activity Of GI262570 In Chronic Hepatitis C Subjects Completed NCT00244751 Phase 2 GI262570 0.5 mg;GI262570 1.0 mg;Placebo
37 4 Week Switch Study in Hemodialysis-dependent Subjects With Anemia Associated With Chronic Kidney Disease Completed NCT01587924 Phase 2 GSK1278863;rhEPO
38 Study to Investigate the Effects of Orteronel on the QT/QTc Interval in Patients With Metastatic Castration-Resistant Prostate Cancer Completed NCT01549951 Phase 2 Orteronel+Prednisone
39 An Investigation Of The Interaction Of GSK961081 With Inhaled Beta-Agonist And Anti-Muscarinic Drugs. Completed NCT00674817 Phase 2 400 microgrammes GSK961081;1200 microgrammes GSK961081
40 A Long-Term, Placebo-Controlled X-Ray Study Investigating the Safety and Efficacy of SD-6010 in Subjects With Osteoarthritis of the Knee Completed NCT00565812 Phase 2 SD-6010;SD-6010;Placebo
41 Adenosine as an Adjunct to Blood Cardioplegia Recruiting NCT02681913 Phase 2 Adenosine
42 Apixaban After Anticoagulation-associated Intracerebral Haemorrhage in Patients With Atrial Fibrillation Recruiting NCT02565693 Phase 2 Apixaban;Aspirin;Carbasalate calcium;Clopidogrel;Dipyridamole
43 The Effect of Buprenorphine Delivered by Buprenorphine Transdermal System (BTDS) at Doses up to 80 Micrograms/Hour (mcg/hr) and Naltrexone on Electrocardiogram (ECG) Intervals in Healthy Volunteers Completed NCT01999114 Phase 1 Buprenorphine transdermal patch;Naltrexone tablet;Placebos (for TDS and for naltrexone and for moxifloxacin);Moxifloxacin tablet
44 Trial to Evaluate the Effects of OPC-34712 on QT/QTc in Subjects With Schizophrenia or Schizoaffective Disorder Completed NCT01423916 Phase 1 OPC-34712 (4mg);Moxifloxacin;OPC-34712 (12mg);Placebo
45 Study to Assess the Effect of Macitentan on the Electrocardiogram (ECG) in Healthy Male and Female Subjects Completed NCT02050802 Phase 1 Moxifloxacin 400 mg;Macitentan 10 mg;Macitentan 30 mg
46 Congenital or Idiopathic Complete Right Bundle Branch Block: Physiological Significance and Molecular Characterization Unknown status NCT00173342
47 Management of Acute Myocardial Infarction in the Presence of Left Bundle Branch Block Unknown status NCT01494870 Not Applicable
48 HV Electrophysiology Study In Transcatheter Aortic Valve Implantation Patients Unknown status NCT02659137
49 Selective Coronary Vein Sampling in Left Bundle Branch Block and CRT Unknown status NCT02396875 Not Applicable
50 Cohort Description of Younger With AV-block Unknown status NCT03024047

Search NIH Clinical Center for Progressive Familial Heart Block

Genetic Tests for Progressive Familial Heart Block

Genetic tests related to Progressive Familial Heart Block:

# Genetic test Affiliating Genes
1 Progressive Familial Heart Block 29

Anatomical Context for Progressive Familial Heart Block

MalaCards organs/tissues related to Progressive Familial Heart Block:

41
Heart, Atrioventricular Node, Kidney, Liver, Lung, Brain, Bone

Publications for Progressive Familial Heart Block

Articles related to Progressive Familial Heart Block:

(show all 15)
# Title Authors Year
1
Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I. ( 26820365 )
2016
2
A connexin40 mutation associated with a malignant variant of progressive familial heart block type I. ( 22247482 )
2012
3
Progressive familial heart block type I in a korean patient. ( 21731570 )
2011
4
Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I. ( 19726882 )
2009
5
A gene locus for progressive familial heart block type II (PFHBII) maps to chromosome 1q32.2-q32.3. ( 16086176 )
2005
6
Progressive familial heart block type II (PFHBII): a clinical profile from 1977 to 2003. ( 15258623 )
2004
7
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). ( 11896454 )
2002
8
Gene for progressive familial heart block type I maps to chromosome 19q13. ( 7882468 )
1995
9
Progressive familial heart block type I. Clinical and pathological observations. ( 2063242 )
1991
10
Progressive familial heart block (type I). A follow-up study after 10 years. ( 3347879 )
1988
11
Progressive familial heart block. Part II. Clinical and ECG confirmation of progression--report on 4 cases. ( 3750143 )
1986
12
Progressive familial heart block. Part I. Extent of the disease. ( 3750142 )
1986
13
Hereditary bundle branch system defect. A new genetic entity? ( 433748 )
1979
14
Hereditary bundle branch system defect: survey of a family with four affected generations. ( 619595 )
1978
15
Progressive familial heart block--two types. ( 897853 )
1977

Variations for Progressive Familial Heart Block

ClinVar genetic disease variations for Progressive Familial Heart Block:

6 (show top 50) (show all 308)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh37 Chromosome 3, 38620907: 38620907
2 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh38 Chromosome 3, 38579416: 38579416
3 SCN5A NM_198056.2(SCN5A): c.1673A> G (p.His558Arg) single nucleotide variant Benign/Likely benign rs1805124 GRCh37 Chromosome 3, 38645420: 38645420
4 SCN5A NM_198056.2(SCN5A): c.1673A> G (p.His558Arg) single nucleotide variant Benign/Likely benign rs1805124 GRCh38 Chromosome 3, 38603929: 38603929
5 SCN5A NM_000335.4(SCN5A): c.2436+12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41312419 GRCh37 Chromosome 3, 38628879: 38628879
6 SCN5A NM_000335.4(SCN5A): c.2436+12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41312419 GRCh38 Chromosome 3, 38587388: 38587388
7 SCN5A NM_198056.2(SCN5A): c.4437+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs148598985 GRCh37 Chromosome 3, 38597919: 38597919
8 SCN5A NM_198056.2(SCN5A): c.4437+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs148598985 GRCh38 Chromosome 3, 38556428: 38556428
9 SCN5A NM_198056.2(SCN5A): c.100C> T (p.Arg34Cys) single nucleotide variant Benign/Likely benign rs6791924 GRCh37 Chromosome 3, 38674699: 38674699
10 SCN5A NM_198056.2(SCN5A): c.100C> T (p.Arg34Cys) single nucleotide variant Benign/Likely benign rs6791924 GRCh38 Chromosome 3, 38633208: 38633208
11 SCN5A NM_198056.2(SCN5A): c.1141-3C> A single nucleotide variant Benign/Likely benign rs41312433 GRCh37 Chromosome 3, 38647642: 38647642
12 SCN5A NM_198056.2(SCN5A): c.1141-3C> A single nucleotide variant Benign/Likely benign rs41312433 GRCh38 Chromosome 3, 38606151: 38606151
13 SCN5A NM_198056.2(SCN5A): c.1302C> T (p.Phe434=) single nucleotide variant Benign/Likely benign rs41313699 GRCh37 Chromosome 3, 38647478: 38647478
14 SCN5A NM_198056.2(SCN5A): c.1302C> T (p.Phe434=) single nucleotide variant Benign/Likely benign rs41313699 GRCh38 Chromosome 3, 38605987: 38605987
15 SCN5A NM_198056.2(SCN5A): c.1681C> T (p.Leu561=) single nucleotide variant Conflicting interpretations of pathogenicity rs45522138 GRCh37 Chromosome 3, 38645412: 38645412
16 SCN5A NM_198056.2(SCN5A): c.1681C> T (p.Leu561=) single nucleotide variant Conflicting interpretations of pathogenicity rs45522138 GRCh38 Chromosome 3, 38603921: 38603921
17 SCN5A NM_198056.2(SCN5A): c.2788-6C> T single nucleotide variant Benign/Likely benign rs41260344 GRCh37 Chromosome 3, 38622868: 38622868
18 SCN5A NM_198056.2(SCN5A): c.2788-6C> T single nucleotide variant Benign/Likely benign rs41260344 GRCh38 Chromosome 3, 38581377: 38581377
19 SCN5A NM_198056.2(SCN5A): c.3183A> G (p.Glu1061=) single nucleotide variant Benign/Likely benign rs7430407 GRCh37 Chromosome 3, 38622467: 38622467
20 SCN5A NM_198056.2(SCN5A): c.3183A> G (p.Glu1061=) single nucleotide variant Benign/Likely benign rs7430407 GRCh38 Chromosome 3, 38580976: 38580976
21 SCN5A NM_198056.2(SCN5A): c.3363G> A (p.Ala1121=) single nucleotide variant Conflicting interpretations of pathogenicity rs9858585 GRCh37 Chromosome 3, 38620852: 38620852
22 SCN5A NM_198056.2(SCN5A): c.3363G> A (p.Ala1121=) single nucleotide variant Conflicting interpretations of pathogenicity rs9858585 GRCh38 Chromosome 3, 38579361: 38579361
23 SCN5A NM_000335.4(SCN5A): c.4845C> T (p.Phe1615=) single nucleotide variant Benign/Likely benign rs41315495 GRCh37 Chromosome 3, 38593015: 38593015
24 SCN5A NM_000335.4(SCN5A): c.4845C> T (p.Phe1615=) single nucleotide variant Benign/Likely benign rs41315495 GRCh38 Chromosome 3, 38551524: 38551524
25 SCN5A NM_198056.2(SCN5A): c.5457T> C (p.Asp1819=) single nucleotide variant Benign/Likely benign rs1805126 GRCh37 Chromosome 3, 38592406: 38592406
26 SCN5A NM_198056.2(SCN5A): c.5457T> C (p.Asp1819=) single nucleotide variant Benign/Likely benign rs1805126 GRCh38 Chromosome 3, 38550915: 38550915
27 SCN5A NM_000335.4(SCN5A): c.5841C> T (p.Ile1947=) single nucleotide variant Benign/Likely benign rs13324293 GRCh37 Chromosome 3, 38592019: 38592019
28 SCN5A NM_000335.4(SCN5A): c.5841C> T (p.Ile1947=) single nucleotide variant Benign/Likely benign rs13324293 GRCh38 Chromosome 3, 38550528: 38550528
29 SCN5A NM_198056.2(SCN5A): c.87A> G (p.Ala29=) single nucleotide variant Benign/Likely benign rs6599230 GRCh37 Chromosome 3, 38674712: 38674712
30 SCN5A NM_198056.2(SCN5A): c.87A> G (p.Ala29=) single nucleotide variant Benign/Likely benign rs6599230 GRCh38 Chromosome 3, 38633221: 38633221
31 SCN5A NM_198056.2(SCN5A): c.1715C> A (p.Ala572Asp) single nucleotide variant Benign/Likely benign rs36210423 GRCh37 Chromosome 3, 38645378: 38645378
32 SCN5A NM_198056.2(SCN5A): c.1715C> A (p.Ala572Asp) single nucleotide variant Benign/Likely benign rs36210423 GRCh38 Chromosome 3, 38603887: 38603887
33 SCN5A NM_198056.2(SCN5A): c.21T> A (p.Pro7=) single nucleotide variant Conflicting interpretations of pathogenicity rs587781157 GRCh37 Chromosome 3, 38674778: 38674778
34 SCN5A NM_198056.2(SCN5A): c.21T> A (p.Pro7=) single nucleotide variant Conflicting interpretations of pathogenicity rs587781157 GRCh38 Chromosome 3, 38633287: 38633287
35 SCN5A NM_198056.2(SCN5A): c.1044C> T (p.Pro348=) single nucleotide variant Conflicting interpretations of pathogenicity rs370346797 GRCh37 Chromosome 3, 38648256: 38648256
36 SCN5A NM_198056.2(SCN5A): c.1044C> T (p.Pro348=) single nucleotide variant Conflicting interpretations of pathogenicity rs370346797 GRCh38 Chromosome 3, 38606765: 38606765
37 SCN5A NM_198056.2(SCN5A): c.1743G> A (p.Ser581=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313687 GRCh37 Chromosome 3, 38645350: 38645350
38 SCN5A NM_198056.2(SCN5A): c.1743G> A (p.Ser581=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313687 GRCh38 Chromosome 3, 38603859: 38603859
39 SCN5A NM_198056.2(SCN5A): c.2437-5C> A single nucleotide variant Conflicting interpretations of pathogenicity rs72549411 GRCh37 Chromosome 3, 38627537: 38627537
40 SCN5A NM_198056.2(SCN5A): c.2437-5C> A single nucleotide variant Conflicting interpretations of pathogenicity rs72549411 GRCh38 Chromosome 3, 38586046: 38586046
41 SCN5A NM_198056.2(SCN5A): c.3873G> A (p.Leu1291=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313033 GRCh37 Chromosome 3, 38603996: 38603996
42 SCN5A NM_198056.2(SCN5A): c.3873G> A (p.Leu1291=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313033 GRCh38 Chromosome 3, 38562505: 38562505
43 SCN5A NM_198056.2(SCN5A): c.1569T> A (p.Arg523=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313693 GRCh37 Chromosome 3, 38645524: 38645524
44 SCN5A NM_198056.2(SCN5A): c.1569T> A (p.Arg523=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313693 GRCh38 Chromosome 3, 38604033: 38604033
45 SCN5A NM_198056.2(SCN5A): c.6003C> T (p.Leu2001=) single nucleotide variant Conflicting interpretations of pathogenicity rs538707712 GRCh37 Chromosome 3, 38591860: 38591860
46 SCN5A NM_198056.2(SCN5A): c.6003C> T (p.Leu2001=) single nucleotide variant Conflicting interpretations of pathogenicity rs538707712 GRCh38 Chromosome 3, 38550369: 38550369
47 SCN5A NM_198056.2(SCN5A): c.4824C> T (p.Leu1608=) single nucleotide variant Conflicting interpretations of pathogenicity rs45437099 GRCh37 Chromosome 3, 38593039: 38593039
48 SCN5A NM_198056.2(SCN5A): c.4824C> T (p.Leu1608=) single nucleotide variant Conflicting interpretations of pathogenicity rs45437099 GRCh38 Chromosome 3, 38551548: 38551548
49 SCN5A NM_198056.2(SCN5A): c.1068T> C (p.Asp356=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313703 GRCh37 Chromosome 3, 38648232: 38648232
50 SCN5A NM_198056.2(SCN5A): c.1068T> C (p.Asp356=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313703 GRCh38 Chromosome 3, 38606741: 38606741

Expression for Progressive Familial Heart Block

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

Pathways for Progressive Familial Heart Block

GO Terms for Progressive Familial Heart Block

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

# Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 9.26 SCN1B SCN5A
2 voltage-gated sodium channel complex GO:0001518 9.16 SCN1B SCN5A
3 sodium channel complex GO:0034706 8.96 SCN1B TRPM4
4 intercalated disc GO:0014704 8.92 DSP GJA5 SCN1B SCN5A

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.79 GJA5 SCN5A TRPM4
2 muscle contraction GO:0006936 9.62 HRC TNNT2
3 sodium ion transmembrane transport GO:0035725 9.61 SCN1B SCN5A
4 regulation of heart contraction GO:0008016 9.6 HRC TNNT2
5 regulation of heart rate GO:0002027 9.59 HRC SCN5A
6 positive regulation of vasoconstriction GO:0045907 9.58 GJA5 TRPM4
7 membrane depolarization GO:0051899 9.58 SCN1B SCN5A
8 positive regulation of heart rate GO:0010460 9.57 HRC TRPM4
9 ventricular cardiac muscle cell action potential GO:0086005 9.56 GJA5 SCN5A
10 cardiac muscle cell action potential involved in contraction GO:0086002 9.55 SCN1B SCN5A
11 positive regulation of sodium ion transport GO:0010765 9.54 SCN1B SCN5A
12 cardiac muscle contraction GO:0060048 9.54 SCN1B SCN5A TNNT2
13 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.52 SCN1B SCN5A
14 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.51 DSP TRPM4
15 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.5 GJA5 SCN1B SCN5A
16 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.49 GJA5 SCN5A
17 SA node cell action potential GO:0086015 9.48 GJA5 SCN5A
18 membrane depolarization during AV node cell action potential GO:0086045 9.46 SCN5A TRPM4
19 AV node cell to bundle of His cell communication GO:0086067 9.43 GJA5 SCN5A
20 cardiac conduction GO:0061337 9.43 GJA5 SCN1B TRPM4
21 membrane depolarization during bundle of His cell action potential GO:0086048 9.4 SCN5A TRPM4
22 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.33 GJA5 SCN1B SCN5A
23 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.13 SCN1B SCN5A TRPM4
24 regulation of heart rate by cardiac conduction GO:0086091 9.02 DSP GJA5 SCN1B SCN5A TRPM4

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

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.43 HRC SCN1B SCN5A
2 protein binding, bridging GO:0030674 9.4 DSP TNNT2
3 scaffold protein binding GO:0097110 9.37 DSP SCN5A
4 voltage-gated sodium channel activity GO:0005248 9.32 SCN1B SCN5A
5 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.16 SCN1B SCN5A
6 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 8.96 SCN1B SCN5A
7 sodium channel activity GO:0005272 8.8 SCN1B SCN5A TRPM4

Sources for Progressive Familial Heart Block

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
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46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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