MCID: PRG126
MIFTS: 47

Progressive Familial Heart Block

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
Hereditary Bundle Branch System Defect 25 73
Hereditary Bundle Branch Defect 12 25
Progressive Cardiac Conduction Defect 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

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 progressive familial heart block, type ia and right bundle branch block, 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 Aldosterone synthesis and secretion and Phase 0 - rapid depolarisation. 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

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 9.81 GJA5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.81 GJA5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.81 TRPM4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.81 SCN5A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.81 SCN5A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.81 TRPM4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.81 TRPM4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.81 GJA5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.81 TRPM4 GJA5 SCN5A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.81 GJA5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.81 SCN5A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.81 TRPM4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.81 SCN5A TRPM4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.81 TRPM4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.81 GJA5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.81 TRPM4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.81 TRPM4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.81 SCN5A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.81 GJA5
20 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.81 SCN5A
21 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.81 TRPM4 GJA5
22 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.81 SCN5A
23 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.81 SCN5A
24 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.81 TRPM4
25 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.81 TRPM4
26 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.81 SCN5A
27 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.81 SCN5A

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 216)
# 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
Captopril Approved Phase 4 62571-86-2 44093
4
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
5
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
6
Enalaprilat Approved Phase 4 76420-72-9 6917719
7
Eplerenone Approved Phase 4 107724-20-9 150310 443872
8
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
9
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
10
Nebivolol Approved, Investigational Phase 4 152520-56-4, 99200-09-6, 118457-14-0 71301
11
Ramipril Approved Phase 4 87333-19-5 5362129
12
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
13
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
14
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-78-2 2244
15
Clopidogrel Approved Phase 4,Phase 3,Phase 2 120202-66-6, 113665-84-2 60606
16
Aripiprazole Approved, Investigational Phase 4,Phase 3 129722-12-9 60795
17
Valproic Acid Approved, Investigational Phase 4 99-66-1 3121
18
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
19
Chromium Approved Phase 4,Phase 3,Not Applicable 7440-47-3 27668
20
Everolimus Approved Phase 4,Phase 3,Not Applicable 159351-69-6 6442177
21
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Not Applicable 22916-47-8 4189
22
Sirolimus Approved, Investigational Phase 4,Phase 3,Not Applicable 53123-88-9 5284616 6436030 46835353
23
Ticlopidine Approved Phase 4,Phase 3 55142-85-3 5472
24
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
25
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
26
Iodine Approved, Investigational Phase 4 7553-56-2 807
27
Povidone Approved Phase 4 9003-39-8
28
Povidone-iodine Approved Phase 4 25655-41-8
29
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
30
Ticagrelor Approved Phase 4 274693-27-5 9871419
31
Amlodipine Approved Phase 4 88150-42-9 2162
32
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
33
Candesartan Experimental Phase 4 139481-59-7 2541
34 Adrenergic Agents Phase 4,Phase 2,Phase 3
35 Adrenergic Antagonists Phase 4
36 Adrenergic beta-Antagonists Phase 4
37 Angiotensin Receptor Antagonists Phase 4
38 Angiotensin-Converting Enzyme Inhibitors Phase 4
39 diuretics Phase 4
40 Diuretics, Potassium Sparing Phase 4,Phase 2
41 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2
42 Hormone Antagonists Phase 4,Phase 2
43 Hormones Phase 4,Phase 3,Phase 2
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
45 Mineralocorticoid Receptor Antagonists Phase 4
46 Mineralocorticoids Phase 4
47 Natriuretic Agents Phase 4,Phase 3,Not Applicable
48 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
49
protease inhibitors Phase 4,Phase 3,Phase 2
50 Calcium, Dietary Phase 4,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 118)
# 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 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
8 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
9 PROMUS Element Plus US Post-Approval Study Active, not recruiting NCT01589978 Phase 4 Aspirin;P2Y12 antagonist
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 Apixaban Versus Antiplatelet Drugs or no Antithrombotic Drugs After Anticoagulation-associated Intracerebral Haemorrhage in Patients With Atrial Fibrillation Unknown status NCT02565693 Phase 2 Apixaban;Aspirin;Carbasalate calcium;Clopidogrel;Dipyridamole
35 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
36 Washington Study of Hemofiltration After Out-of-Hospital Cardiac Arrest Completed NCT01509040 Phase 1, Phase 2
37 Antifibrotic Activity Of GI262570 In Chronic Hepatitis C Subjects Completed NCT00244751 Phase 2 GI262570 0.5 mg;GI262570 1.0 mg;Placebo
38 4 Week Switch Study in Hemodialysis-dependent Subjects With Anemia Associated With Chronic Kidney Disease Completed NCT01587924 Phase 2 GSK1278863;rhEPO
39 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
40 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
41 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
42 Adenosine as an Adjunct to Blood Cardioplegia Recruiting NCT02681913 Phase 2 Adenosine
43 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
44 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
45 Congenital or Idiopathic Complete Right Bundle Branch Block: Physiological Significance and Molecular Characterization Unknown status NCT00173342
46 Management of Acute Myocardial Infarction in the Presence of Left Bundle Branch Block Unknown status NCT01494870 Not Applicable
47 HV Electrophysiology Study In Transcatheter Aortic Valve Implantation Patients Unknown status NCT02659137
48 Selective Coronary Vein Sampling in Left Bundle Branch Block and CRT Unknown status NCT02396875 Not Applicable
49 Left Ventricular Function and Remodelling During Permanent Pacing Unknown status NCT00228241 Not Applicable
50 Effect of Bi-ventricular Pacing on Autonomous Nervous System Unknown status NCT00190138 Not Applicable

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, Testes, Prostate, Liver, Skeletal Muscle

Publications for Progressive Familial Heart Block

Articles related to Progressive Familial Heart Block:

(show all 13)
# 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
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 268)
# 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.1569T> A (p.Arg523=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313693 GRCh37 Chromosome 3, 38645524: 38645524
4 SCN5A NM_198056.2(SCN5A): c.1569T> A (p.Arg523=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313693 GRCh38 Chromosome 3, 38604033: 38604033
5 SCN5A NM_198056.2(SCN5A): c.6003C> T (p.Leu2001=) single nucleotide variant Conflicting interpretations of pathogenicity rs538707712 GRCh37 Chromosome 3, 38591860: 38591860
6 SCN5A NM_198056.2(SCN5A): c.6003C> T (p.Leu2001=) single nucleotide variant Conflicting interpretations of pathogenicity rs538707712 GRCh38 Chromosome 3, 38550369: 38550369
7 SCN5A NM_198056.2(SCN5A): c.4824C> T (p.Leu1608=) single nucleotide variant Conflicting interpretations of pathogenicity rs45437099 GRCh37 Chromosome 3, 38593039: 38593039
8 SCN5A NM_198056.2(SCN5A): c.4824C> T (p.Leu1608=) single nucleotide variant Conflicting interpretations of pathogenicity rs45437099 GRCh38 Chromosome 3, 38551548: 38551548
9 SCN5A NM_198056.2(SCN5A): c.1068T> C (p.Asp356=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313703 GRCh37 Chromosome 3, 38648232: 38648232
10 SCN5A NM_198056.2(SCN5A): c.1068T> C (p.Asp356=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313703 GRCh38 Chromosome 3, 38606741: 38606741
11 SCN5A NM_001099404.1(SCN5A): c.1598G> A (p.Arg533His) single nucleotide variant Uncertain significance rs146848219 GRCh37 Chromosome 3, 38645495: 38645495
12 SCN5A NM_001099404.1(SCN5A): c.1598G> A (p.Arg533His) single nucleotide variant Uncertain significance rs146848219 GRCh38 Chromosome 3, 38604004: 38604004
13 SCN5A NM_198056.2(SCN5A): c.4109A> G (p.Asp1370Gly) single nucleotide variant Uncertain significance rs775485359 GRCh37 Chromosome 3, 38601774: 38601774
14 SCN5A NM_198056.2(SCN5A): c.4109A> G (p.Asp1370Gly) single nucleotide variant Uncertain significance rs775485359 GRCh38 Chromosome 3, 38560283: 38560283
15 SCN5A NM_198056.2(SCN5A): c.2956C> T (p.Arg986Trp) single nucleotide variant Uncertain significance rs561547165 GRCh37 Chromosome 3, 38622694: 38622694
16 SCN5A NM_198056.2(SCN5A): c.2956C> T (p.Arg986Trp) single nucleotide variant Uncertain significance rs561547165 GRCh38 Chromosome 3, 38581203: 38581203
17 SCN5A NM_198056.2(SCN5A): c.787G> A (p.Val263Ile) single nucleotide variant Uncertain significance rs752824646 GRCh37 Chromosome 3, 38651372: 38651372
18 SCN5A NM_198056.2(SCN5A): c.787G> A (p.Val263Ile) single nucleotide variant Uncertain significance rs752824646 GRCh38 Chromosome 3, 38609881: 38609881
19 TRPM4 NM_017636.3(TRPM4): c.322C> T (p.Arg108Cys) single nucleotide variant Benign/Likely benign rs115335683 GRCh37 Chromosome 19, 49671228: 49671228
20 TRPM4 NM_017636.3(TRPM4): c.322C> T (p.Arg108Cys) single nucleotide variant Benign/Likely benign rs115335683 GRCh38 Chromosome 19, 49167971: 49167971
21 TRPM4 NM_017636.3(TRPM4): c.783G> A (p.Lys261=) single nucleotide variant Benign/Likely benign rs111930830 GRCh38 Chromosome 19, 49168723: 49168723
22 TRPM4 NM_017636.3(TRPM4): c.783G> A (p.Lys261=) single nucleotide variant Benign/Likely benign rs111930830 GRCh37 Chromosome 19, 49671980: 49671980
23 SCN5A NM_001099404.1(SCN5A): c.4267G> A (p.Asp1423Asn) single nucleotide variant Uncertain significance rs746291609 GRCh37 Chromosome 3, 38598754: 38598754
24 SCN5A NM_001099404.1(SCN5A): c.4267G> A (p.Asp1423Asn) single nucleotide variant Uncertain significance rs746291609 GRCh38 Chromosome 3, 38557263: 38557263
25 SCN5A NM_198056.2(SCN5A): c.5607C> T (p.Asp1869=) single nucleotide variant Conflicting interpretations of pathogenicity rs560476223 GRCh38 Chromosome 3, 38550765: 38550765
26 SCN5A NM_198056.2(SCN5A): c.5607C> T (p.Asp1869=) single nucleotide variant Conflicting interpretations of pathogenicity rs560476223 GRCh37 Chromosome 3, 38592256: 38592256
27 SCN5A NM_198056.2(SCN5A): c.5454C> T (p.Ala1818=) single nucleotide variant Conflicting interpretations of pathogenicity rs370114378 GRCh38 Chromosome 3, 38550918: 38550918
28 SCN5A NM_198056.2(SCN5A): c.5454C> T (p.Ala1818=) single nucleotide variant Conflicting interpretations of pathogenicity rs370114378 GRCh37 Chromosome 3, 38592409: 38592409
29 SCN5A NM_198056.2(SCN5A): c.3542T> C (p.Val1181Ala) single nucleotide variant Uncertain significance rs376965389 GRCh37 Chromosome 3, 38616912: 38616912
30 SCN5A NM_198056.2(SCN5A): c.3542T> C (p.Val1181Ala) single nucleotide variant Uncertain significance rs376965389 GRCh38 Chromosome 3, 38575421: 38575421
31 TRPM4 NM_017636.3(TRPM4): c.448+6C> T single nucleotide variant Benign/Likely benign rs78051297 GRCh38 Chromosome 19, 49168103: 49168103
32 TRPM4 NM_017636.3(TRPM4): c.448+6C> T single nucleotide variant Benign/Likely benign rs78051297 GRCh37 Chromosome 19, 49671360: 49671360
33 TRPM4 NM_017636.3(TRPM4): c.449-10G> A single nucleotide variant Benign/Likely benign rs78444754 GRCh38 Chromosome 19, 49168250: 49168250
34 TRPM4 NM_017636.3(TRPM4): c.449-10G> A single nucleotide variant Benign/Likely benign rs78444754 GRCh37 Chromosome 19, 49671507: 49671507
35 TRPM4 NM_017636.3(TRPM4): c.1368C> G (p.Thr456=) single nucleotide variant Conflicting interpretations of pathogenicity rs56118173 GRCh38 Chromosome 19, 49182682: 49182682
36 TRPM4 NM_017636.3(TRPM4): c.1368C> G (p.Thr456=) single nucleotide variant Conflicting interpretations of pathogenicity rs56118173 GRCh37 Chromosome 19, 49685939: 49685939
37 TRPM4 NM_017636.3(TRPM4): c.-12G> A single nucleotide variant Benign/Likely benign rs3760663 GRCh37 Chromosome 19, 49661112: 49661112
38 TRPM4 NM_017636.3(TRPM4): c.-12G> A single nucleotide variant Benign/Likely benign rs3760663 GRCh38 Chromosome 19, 49157855: 49157855
39 TRPM4 NM_017636.3(TRPM4): c.2934T> C (p.Ile978=) single nucleotide variant Benign/Likely benign rs35516880 GRCh37 Chromosome 19, 49704023: 49704023
40 TRPM4 NM_017636.3(TRPM4): c.2934T> C (p.Ile978=) single nucleotide variant Benign/Likely benign rs35516880 GRCh38 Chromosome 19, 49200766: 49200766
41 SCN5A NM_198056.2(SCN5A) insertion Likely benign rs45592631 GRCh38 Chromosome 3, 38548175: 38548176
42 SCN5A NM_198056.2(SCN5A) insertion Likely benign rs45592631 GRCh37 Chromosome 3, 38589666: 38589667
43 SCN5A NM_198056.2(SCN5A): c.*1701G> T single nucleotide variant Uncertain significance rs886058441 GRCh38 Chromosome 3, 38548620: 38548620
44 SCN5A NM_198056.2(SCN5A): c.*1701G> T single nucleotide variant Uncertain significance rs886058441 GRCh37 Chromosome 3, 38590111: 38590111
45 SCN5A NM_198056.2(SCN5A): c.*1602G> T single nucleotide variant Uncertain significance rs886058444 GRCh38 Chromosome 3, 38548719: 38548719
46 SCN5A NM_198056.2(SCN5A): c.*1602G> T single nucleotide variant Uncertain significance rs886058444 GRCh37 Chromosome 3, 38590210: 38590210
47 SCN5A NM_198056.2(SCN5A): c.*1537T> C single nucleotide variant Likely benign rs41315485 GRCh38 Chromosome 3, 38548784: 38548784
48 SCN5A NM_198056.2(SCN5A): c.*1537T> C single nucleotide variant Likely benign rs41315485 GRCh37 Chromosome 3, 38590275: 38590275
49 SCN5A NM_198056.2(SCN5A): c.*1165C> T single nucleotide variant Likely benign rs41313017 GRCh38 Chromosome 3, 38549156: 38549156
50 SCN5A NM_198056.2(SCN5A): c.*1165C> T single nucleotide variant Likely benign rs41313017 GRCh37 Chromosome 3, 38590647: 38590647

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 8.8 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 ion transport GO:0006811 9.89 KCNA7 SCN1B SCN5A TRPM4
2 transmembrane transport GO:0055085 9.88 GJA5 KCNA7 SCN5A TRPM4
3 regulation of ion transmembrane transport GO:0034765 9.73 KCNA7 SCN1B SCN5A
4 sodium ion transmembrane transport GO:0035725 9.62 SCN1B SCN5A
5 regulation of heart contraction GO:0008016 9.61 HRC TNNT2
6 regulation of heart rate GO:0002027 9.61 HRC SCN5A
7 cardiac muscle contraction GO:0060048 9.61 SCN1B SCN5A TNNT2
8 positive regulation of vasoconstriction GO:0045907 9.6 GJA5 TRPM4
9 membrane depolarization GO:0051899 9.58 SCN1B SCN5A
10 positive regulation of heart rate GO:0010460 9.57 HRC TRPM4
11 cardiac muscle cell action potential involved in contraction GO:0086002 9.55 SCN1B SCN5A
12 positive regulation of sodium ion transport GO:0010765 9.54 SCN1B SCN5A
13 ventricular cardiac muscle cell action potential GO:0086005 9.52 GJA5 SCN5A
14 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.51 SCN1B SCN5A
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 cardiac conduction GO:0061337 9.46 GJA5 SCN1B SCN5A TRPM4
20 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.43 GJA5 SCN1B SCN5A
21 AV node cell to bundle of His cell communication GO:0086067 9.4 GJA5 SCN5A
22 membrane depolarization during bundle of His cell action potential GO:0086048 9.37 SCN5A TRPM4
23 regulation of heart rate by cardiac conduction GO:0086091 9.26 GJA5 SCN1B SCN5A TRPM4
24 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 8.8 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 voltage-gated ion channel activity GO:0005244 9.43 KCNA7 SCN1B SCN5A
2 voltage-gated sodium channel activity GO:0005248 9.32 SCN1B SCN5A
3 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.16 SCN1B SCN5A
4 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 8.96 SCN1B SCN5A
5 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
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37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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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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