ATRST1
MCID: ATR087
MIFTS: 69

Atrial Standstill 1 (ATRST1)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Atrial Standstill 1

MalaCards integrated aliases for Atrial Standstill 1:

Name: Atrial Standstill 1 58 76 30 6
Cardiomyopathy 41 17 3 64
Heart Block 45 74 64
Cardiomyopathy, Familial, with Conduction Disturbance 58 74
Atrial Cardiomyopathy with Heart Block 58 76
Cardiomyopathies 45 74
Atrst1 58 76
Familial Cardiomyopathy with Conduction Disturbance 76
Atrial Standstill, Digenic 58
Standstill, Atrial, Type 1 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
atrial standstill 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Atrial Standstill 1

PubMed Health : 64 About cardiomyopathy: Cardiomyopathy (KAR-de-o-mi-OP-ah-thee) refers to diseases of the heart muscle. These diseases have many causes, signs and symptoms, and treatments.In cardiomyopathy, the heart muscle becomes enlarged, thick, or rigid. In rare cases, the muscle tissue in the heart is replaced with scar tissue.As cardiomyopathy worsens, the heart becomes weaker. It's less able to pump blood through the body and maintain a normal electrical rhythm. This can lead to heart failure or irregular heartbeats called arrhythmias (ah-RITH-me-ahs). In turn, heart failure can cause fluid to build up in the lungs, ankles, feet, legs, or abdomen.The weakening of the heart also can cause other complications, such as heart valve problems.

MalaCards based summary : Atrial Standstill 1, also known as cardiomyopathy, is related to progressive familial heart block, type ia and progressive familial heart block, and has symptoms including angina pectoris, edema and chest pain. An important gene associated with Atrial Standstill 1 is GJA5 (Gap Junction Protein Alpha 5), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Cardiac conduction. The drugs Clopidogrel and Ticagrelor have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and lung, and related phenotypes are first degree atrioventricular block and endocardial fibroelastosis

OMIM : 58 Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by Fazelifar et al., 2005). (108770)

CDC : 3 Cardiomyopathy represents a collection of diverse conditions of the heart muscle. These diseases have many causes, symptoms, and treatments and can affect people of all ages and races.

UniProtKB/Swiss-Prot : 76 Atrial standstill 1: A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm.

Related Diseases for Atrial Standstill 1

Diseases in the Atrial Standstill family:

Atrial Standstill 1 Atrial Standstill 2

Diseases related to Atrial Standstill 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1284)
# Related Disease Score Top Affiliating Genes
1 progressive familial heart block, type ia 35.0 GJA5 SCN5A
2 progressive familial heart block 34.6 DSP GJA5 SCN1B SCN5A TNNT2
3 restrictive cardiomyopathy 34.4 MYBPC3 MYH7 TNNI3 TNNT2 TTN TTR
4 cardiomyopathy, dilated, 1e 34.4 DSP LMNA MYH7 SCN5A TTN
5 peripartum cardiomyopathy 34.4 MYH7 TTN
6 arrhythmogenic right ventricular cardiomyopathy 34.2 ACTN2 DSP LMNA MYH7 PLN SCN5A
7 cardiomyopathy, familial hypertrophic, 4 34.0 MYBPC3 TTN
8 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 33.9 DSP MYH7 SCN5A
9 familial isolated restrictive cardiomyopathy 33.8 TNNI3 TNNT2
10 intrinsic cardiomyopathy 33.7 DSP LMNA MYBPC3 MYH7 SCN5A TNNI3
11 familial isolated dilated cardiomyopathy 33.6 ACTN2 MYBPC3 MYH7 PLN SCN5A TNNI3
12 left ventricular noncompaction 33.5 ACTN2 DSP LMNA MIPEP MYBPC3 MYH7
13 atrial standstill 33.2 GJA5 SCN5A
14 familial progressive cardiac conduction defect 32.9 SCN1B SCN5A
15 arrhythmogenic right ventricular dysplasia, familial, 1 32.9 DSP TTN
16 arrhythmogenic right ventricular dysplasia, familial, 9 32.9 DSP PLN
17 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 32.7 DSP LMNA TTN
18 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 32.5 DSP LMNA TTN
19 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 32.5 DSP LMNA TTN
20 campomelic dysplasia 31.9 LMNA MYBPC3 TTN
21 cardiac conduction defect 31.6 DSP LMNA MYBPC3 MYH7 PLN SCN5A
22 syncope 31.2 ACTN2 SCN5A TTN
23 ventricular fibrillation, paroxysmal familial, 1 31.0 DSP SCN5A TNNT2
24 atrial fibrillation 30.8 GJA5 MYBPC3 SCN1B SCN5A
25 heart disease 30.8 DSP GJA5 LMNA MIR320A MYBPC3 MYH7
26 cardiac arrest 30.8 DSP MYBPC3 MYH7 PLN SCN5A TNNT2
27 wolff-parkinson-white syndrome 30.7 LAMP2 MYH7 TNNI3
28 sick sinus syndrome 30.7 LMNA SCN5A TTN
29 hypertrophic cardiomyopathy 30.5 ACTN2 DSP LAMP2 LMNA MYBPC3 MYH7
30 endocardial fibroelastosis 30.5 ACTN2 MYH7
31 left bundle branch hemiblock 30.4 SCN5A TNNI3
32 cardiomyopathy, familial hypertrophic, 1 30.3 MYBPC3 MYH7 TNNI3 TNNT2 TTN
33 catecholaminergic polymorphic ventricular tachycardia 30.3 DSP MYBPC3 SCN5A
34 first-degree atrioventricular block 30.2 GJA5 MYH7 SCN5A
35 sinoatrial node disease 29.9 GJA5 SCN5A
36 dilated cardiomyopathy 29.7 ACTN2 DSP GJA5 LAMP2 LMNA MYBPC3
37 heart block, congenital 12.8
38 progressive familial heart block, type ib 12.7
39 progressive familial heart block, type ii 12.7
40 cardiomyopathy, infantile histiocytoid 12.6
41 cardiomyopathy, dilated, 3b 12.5
42 cardiomyopathy, dilated, with woolly hair and keratoderma 12.5
43 cardiomyopathy, dilated, 1b 12.4
44 sino-auricular heart block 12.4
45 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 12.4
46 cardiomyopathy, dilated, 1o 12.4
47 cardiomyopathy, dilated, 1x 12.4
48 cardiomyopathy, dilated, 1a 12.4
49 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 12.4
50 cardiomyopathy, dilated, 1kk 12.4

Comorbidity relations with Atrial Standstill 1 via Phenotypic Disease Network (PDN):


Heart Disease

Graphical network of the top 20 diseases related to Atrial Standstill 1:



Diseases related to Atrial Standstill 1

Symptoms & Phenotypes for Atrial Standstill 1

Human phenotypes related to Atrial Standstill 1:

33
# Description HPO Frequency HPO Source Accession
1 first degree atrioventricular block 33 HP:0011705
2 endocardial fibroelastosis 33 HP:0001706
3 atrial standstill 33 HP:0025478
4 atrial cardiomyopathy 33 HP:0200127
5 premature atrial contractions 33 HP:0006699

Symptoms via clinical synopsis from OMIM:

58
Lab:
endocardial fibroelastosis

Cardiac:
first-degree heart block
ectopic supraventricular rhythms
atrial standstill
atrial inexcitability
atrial cardiomyopathy

Clinical features from OMIM:

108770

UMLS symptoms related to Atrial Standstill 1:


angina pectoris, edema, chest pain

MGI Mouse Phenotypes related to Atrial Standstill 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 DSP GJA5 LAMP2 LMNA MYBPC3 MYH7
2 muscle MP:0005369 9.32 DSP GJA5 LAMP2 LMNA MYBPC3 MYH7

Drugs & Therapeutics for Atrial Standstill 1

PubMedHealth treatment related to Atrial Standstill 1: 64

People who have cardiomyopathy but no signs or symptoms may not need treatment. Sometimes, dilated cardiomyopathy that comes on suddenly may even go away on its own.For other people who have cardiomyopathy, treatment is needed. Treatment depends on the type of cardiomyopathy you have, the severity of your symptoms and complications, and your age and overall health.The main goals of treating cardiomyopathy include:Managing any conditions that cause or contribute to the diseaseControlling signs and symptoms so that you can live as normally as possibleStopping the disease from getting worseReducing complications and the risk of sudden cardiac arrest (SCA)Treatments may include lifestyle changes, medicines, surgery, implanted devices to correct arrhythmias (irregular heartbeats), and/or a nonsurgical procedure.

Drugs for Atrial Standstill 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 219)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
2
Ticagrelor Approved Phase 4 274693-27-5 9871419
3
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 53-03-2 5865
4
4-Aminopyridine Approved Phase 4 504-24-5 1727
5
Dopamine Approved Phase 4,Phase 3 62-31-7, 51-61-6 681
6
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
7
Nebivolol Approved, Investigational Phase 4 118457-14-0, 99200-09-6, 152520-56-4 71301
8
Atenolol Approved Phase 4 29122-68-7 2249
9
Ethanol Approved Phase 4,Phase 1 64-17-5 702
10
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 4 8001-79-4
11 Kava Approved, Investigational, Nutraceutical Phase 4 9000-38-8
12 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1
13 Purinergic P2 Receptor Antagonists Phase 4
14 Platelet Aggregation Inhibitors Phase 4,Not Applicable
15 Purinergic P2Y Receptor Antagonists Phase 4
16 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Antihypertensive Agents Phase 4,Phase 2,Not Applicable
18 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
19 Autonomic Agents Phase 4,Phase 2,Not Applicable
20 Adrenergic Agonists Phase 4,Phase 2,Phase 3,Phase 1
21 Adrenergic Agents Phase 4,Phase 2,Phase 3,Phase 1
22 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Adrenergic beta-Agonists Phase 4,Phase 2
24 Technetium Tc 99m Sestamibi Phase 4
25 Radiopharmaceuticals Phase 4
26 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
27 Castor Phase 4
28 glucocorticoids Phase 4,Phase 3,Phase 2,Not Applicable
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
30 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Not Applicable
31 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Not Applicable
32 Potassium Channel Blockers Phase 4
33 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Not Applicable
34 Gastrointestinal Agents Phase 4,Not Applicable
35 Dopamine D2 Receptor Antagonists Phase 4,Phase 3
36 Dopamine Antagonists Phase 4,Phase 3
37 Dopamine Agents Phase 4,Phase 3
38 Antiemetics Phase 4,Not Applicable
39 Adrenergic beta-1 Receptor Antagonists Phase 4,Phase 2
40 Adrenergic beta-Antagonists Phase 4,Phase 2,Not Applicable
41 Vasodilator Agents Phase 4,Phase 2,Phase 1
42 Sympatholytics Phase 4,Phase 2
43 Adrenergic Antagonists Phase 4,Phase 2
44
Dexmedetomidine Approved, Vet_approved Phase 2, Phase 3,Phase 1 113775-47-6 68602 5311068
45
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
46
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029
47
Bacitracin Approved, Vet_approved Phase 3 1405-87-4 439542 10909430
48
Cephalexin Approved, Investigational, Vet_approved Phase 3 15686-71-2 27447
49
Polymyxin B Approved, Vet_approved Phase 3 1404-26-8
50
Ofloxacin Approved Phase 3 82419-36-1 4583

Interventional clinical trials:

(show top 50) (show all 246)
# Name Status NCT ID Phase Drugs
1 Syncope: Pacing or Recording in the Later Years Unknown status NCT01423994 Phase 4
2 SmartTouch Catheter for Left Anterior Line - SmarT Line Study Unknown status NCT02217657 Phase 4
3 Ticagrelor and Clopidogrel on Reperfusion in Patients With AMI Unknown status NCT02233790 Phase 4 Ticagrelor;Clopidogrel
4 A Prospective Randomized Study Comparing Radiofrequency Energy With Cryoenergy Unknown status NCT00773539 Phase 4
5 Safety and Feasibility of Arrhythmia Ablation Using the Amigo Remote Robotic System as Compared With Manual Ablation Unknown status NCT01834872 Phase 4
6 Safety and the Effects of Isolated Left Ventricular Pacing in Patients With Bradyarrhythmias Unknown status NCT01717469 Phase 4
7 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
8 Resynchronization in Paced Heart Failure Patients With Implantable Cardioverter Defibrillator (ICD) Indication Unknown status NCT01415024 Phase 4
9 Right Ventricular Septal Pacing for the Prevention of Left Ventricular Dysfunction in Patients With Atrio-Ventricular Block Unknown status NCT00709774 Phase 4
10 Ventricular Pacing Site Selection (V-PASS) Unknown status NCT00292383 Phase 4
11 Efficacy of a Pacemaker Algorithm in Promotion of the Intrinsic Heart Activity. Unknown status NCT00156741 Phase 4
12 Arrhythmia Restart Prevention and RatE STabilization in Atrial Fibrillation Unknown status NCT00224341 Phase 4
13 Mode Evaluation in Sick Sinus Syndrome Trial (MODEST) Unknown status NCT00161551 Phase 4
14 Post-PCI:Cardiac Imaging in Patients With Diabetes to Detect Coronary Artery Blockages Previously Opened by Angioplasty Completed NCT00162357 Phase 4 Technetium Tc99m Sestamibi
15 Catheter Evaluation for Endocardial Ablation in Patients With Typical Atrial Flutter Completed NCT00318565 Phase 4
16 Cardiac Sarcoidosis Response To Steroids Trial Withdrawn NCT01210677 Phase 4 Prednisone
17 Virtual Clinic Pacemaker Follow-up Terminated NCT00475124 Phase 4
18 Austria Study - Analysis of Difference Between Active and Passive Fixation Leads Completed NCT00180557 Phase 4
19 The Contact-CTI Study: Use of Tissue Contact Data to Guide Atrial Flutter Ablation Completed NCT01596959 Phase 4
20 CryoCath Freezor CryoAblation Catheter System (CRYOFACTS) Completed NCT00621621 Phase 4
21 NAVISTAR® THERMOCOOL® Catheter Post Approval Registry Completed NCT00964392 Phase 4
22 Resistance Training and Amino Pyridine in Multiple Sclerosis Completed NCT02143167 Phase 4 SR-fampridine;Placebo
23 Atrial Fibrillation Ablation and Autonomic Modulation Via Thorascopic Surgery Completed NCT01091389 Phase 4
24 Evaluation of VISITAG SURPOINT™ Module With External Processing Unit (EPU) Recruiting NCT03624881 Phase 4
25 Cryoenergy Or Radiofrequency for Pulmonary Vein Isolation Completed NCT00969735 Phase 4
26 ISCHEMIA-Chronic Kidney Disease Trial Active, not recruiting NCT01985360 Phase 4 Medication
27 Acute and Chronic Effect of His-pacing in Consecutive Patients With AV-block Completed NCT01019213 Phase 4
28 Biventricular Alternative Pacing Withdrawn NCT00559143 Phase 4
29 Use of an Antiemetic to Shorten the Length of Labor in Nulliparous Women Completed NCT01937234 Phase 4 Metoclopramide;Placebo
30 The Impact of Heart Rate on Central Blood Pressure in Sick Sinus Syndrome Patients With a Permanent Cardiac Pacemaker Completed NCT03245996 Phase 4 Atenolol Pill;Nebivolol Pill;Ivabradine Pill
31 Prevention of Atrial Arrhythmia in Patients Without Atrioventricular (AV) Conduction Disease Completed NCT01170611 Phase 4
32 Falls and Cardiovascular Events in Pacemaker Patients Completed NCT01037426 Phase 4
33 Spontaneous Atrio Ventricular Conduction Preservation Completed NCT00655213 Phase 4
34 Pacing of the Atria in Sick Sinus Syndrome Trial Preventive Strategies for Atrial Fibrillation Completed NCT00161538 Phase 4
35 Isthmus Ablation With Gold Electrode for Treatment of Atrial Flutter (AURUM 8) Completed NCT00326001 Phase 4
36 Dexmedetomidine and Outcomes of Cardiac Surgery (DOCS) Completed NCT02237495 Phase 2, Phase 3 dexmedetomidine;placebo
37 Perioperative Antibiotic Therapy to Prevent Cardiac Implantable Electronic Device Infections. Recruiting NCT02809131 Phase 3 polymixin/bacitracin;cephalexin, or levofloxacin, or clindamycin;Saline
38 SMART-SF Radiofrequency Ablation Safety Study Completed NCT02359890 Phase 3
39 TAXUS IV-SR: Treatment of De Novo Coronary Disease Using a Single Paclitaxel-Eluting Stent Completed NCT00292474 Phase 2, Phase 3
40 THERMOCOOL® SMARTTOUCH™ Catheter for the Treatment of Symptomatic Paroxysmal Atrial Fibrillation Completed NCT01385202 Phase 3
41 NAVISTAR® THERMOCOOL® Catheter for the Radiofrequency Ablation of Symptomatic Paroxysmal Atrial Fibrillation- Treatment Use Study Terminated NCT00721149 Phase 3
42 NAVISTAR® THERMOCOOL® Catheter for the Radiofrequency Ablation of Symptomatic Paroxysmal Atrial Fibrillation Completed NCT00116428 Phase 3 Antiarrhythmic drug
43 THERMOCOOL® SMARTTOUCH™ Catheter for the Treatment of Symptomatic Paroxysmal Atrial Fibrillation CONTINUED ACCESS Completed NCT01639495 Phase 3
44 Evaluation of QDOT MICRO™ Catheter for Pulmonary Vein Isolation in Subjects With Paroxysmal Atrial Fibrillation Recruiting NCT03775512 Phase 3
45 Review of the Safety and Effectiveness of the THERMOCOOL SMARTTOUCH® SF Catheter Evaluated for Treating Symptomatic PersistenT AF Active, not recruiting NCT02817776 Phase 3
46 MADIT ASIA Cardiac Resynchronization Trial Terminated NCT01872234 Phase 3
47 Cardiac Sarcoidosis Randomized Trial Recruiting NCT03593759 Phase 3 Prednisone;Methotrexate
48 Aripiprazole in the Treatment of Patients With Psychosis Associated With Dementia of Alzheimer's Type Completed NCT01438060 Phase 3 Aripiprazole (BMS-337039);Placebo
49 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
50 Comparison of SEPTal and Apical Pacing Sites in PerManent Right Ventricular Pacing Completed NCT00925691 Phase 3

Search NIH Clinical Center for Atrial Standstill 1

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: heart block

Genetic Tests for Atrial Standstill 1

Genetic tests related to Atrial Standstill 1:

# Genetic test Affiliating Genes
1 Atrial Standstill 1 30

Anatomical Context for Atrial Standstill 1

MalaCards organs/tissues related to Atrial Standstill 1:

42
Heart, Testes, Lung, Kidney, Endothelial, Liver, Brain

Publications for Atrial Standstill 1

Articles related to Atrial Standstill 1:

(show top 50) (show all 5186)
# Title Authors Year
1
Takotsubo cardiomyopathy and giant r wave syndrome mimicking acute myocardial infarction: A case report. ( 30817596 )
2019
2
LMNA-mutated Rabbits: A Model of Premature Aging Syndrome with Muscular Dystrophy and Dilated Cardiomyopathy. ( 30705772 )
2019
3
Anomalous Left Coronary Artery From the Pulmonary Artery Presenting as Dilated Cardiomyopathy With Regional Wall Motion Abnormality on Point-of-Care Ultrasound. ( 30702648 )
2019
4
105 Inappropriate ICD Shocks in a Patient with Dilated Cardiomyopathy and Broca's Aphasia. ( 30906599 )
2019
5
The Prognostic Value of Right Ventricular Deformation Imaging in Early Arrhythmogenic Right Ventricular Cardiomyopathy. ( 29550307 )
2019
6
Arrhythmogenic Right Ventricular Cardiomyopathy: Progress Toward Personalized Management. ( 30355260 )
2019
7
Subcutaneous implantable cardioverter defibrillator in patients with arrhythmogenic right ventricular cardiomyopathy: Results from an Italian multicenter registry. ( 30661851 )
2019
8
Bioinformatics analysis of sex differences in arrhythmogenic right ventricular cardiomyopathy. ( 30664203 )
2019
9
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) - What We Have Learned after 40 Years of the Diagnosis of This Clinical Entity. ( 30673021 )
2019
10
Cardiac Sympathectomy For Refractory Ventricular Tachycardia in Arrhythmogenic Right Ventricular Cardiomyopathy. ( 30677492 )
2019
11
Outcomes of Catheter Ablation in Arrhythmogenic Right Ventricular Cardiomyopathy Without Background Implantable Cardioverter Defibrillator Therapy: A Multicenter International Ventricular Tachycardia Registry. ( 30678787 )
2019
12
Primary Prevention of Sudden Cardiac Death With Implantable Cardioverter-Defibrillator Therapy in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy. ( 30678832 )
2019
13
Arrhythmogenic right ventricular cardiomyopathy (ARVC) mimics: the knot unravelled by cardiovascular MRI. ( 30685060 )
2019
14
Characteristics of Recurrent Ventricular Tachyarrhythmia after Catheter Ablation in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy. ( 30699244 )
2019
15
Recurrent ventricular tachycardia after catheter ablation in arrhythmogenic right ventricular cardiomyopathy: Scar progression or ineffective ablation? ( 30715771 )
2019
16
The sympathetic nervous system and arrhythmogenic right ventricular cardiomyopathy: Further evidence of a strong tie. ( 30735792 )
2019
17
Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: Genetic characteristics. ( 30765282 )
2019
18
Late presentation of arrhythmogenic right ventricular cardiomyopathy in an octogenarian associated with a pathogenic variant in the plakophilin 2 gene: a case report. ( 30782136 )
2019
19
High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia. ( 30790397 )
2019
20
Possibly Late-Onset Arrhythmogenic Right Ventricular Cardiomyopathy: Unique Triglyceride Deposition by Analysis of Lipid Contents. ( 30799966 )
2019
21
Catheter Ablation of Ventricular Tachycardia in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: A Sequential Approach. ( 30813830 )
2019
22
Athletic Training and Arrhythmogenic Right Ventricular Cardiomyopathy. ( 30865997 )
2019
23
Biventricular myocardial strain analysis using cardiac magnetic resonance feature tracking (CMR-FT) in patients with distinct types of right ventricular diseases comparing arrhythmogenic right ventricular cardiomyopathy (ARVC), right ventricular outflow-tract tachycardia (RVOT-VT), and Brugada syndrome (BrS). ( 30868222 )
2019
24
Diagnostic Value of Native T1 Mapping in Arrhythmogenic Right Ventricular Cardiomyopathy. ( 30878423 )
2019
25
The echocardiographic assessment of the right ventricle in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia compared with athletes and matched controls. ( 30883925 )
2019
26
Bradyarrhythmias in Arrhythmogenic Right Ventricular Cardiomyopathy. ( 30885416 )
2019
27
Partial Pericardial Agenesis Mimicking Arrhythmogenic Right Ventricular Cardiomyopathy. ( 30893123 )
2019
28
A new prediction model for ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy. ( 30915475 )
2019
29
Case of a patient with heart failure, dilated cardiomyopathy, and atrial fibrillation treated with sacubitril/valsartan. ( 30895821 )
2019
30
Hypertrophic Cardiomyopathy Patients With Paroxysmal Atrial Fibrillation Have a High Burden of Left Atrial Fibrosis by Cardiac Magnetic Resonance Imaging. ( 30898240 )
2019
31
Atrial Fibrillation and Stroke in Patients with Hypertrophic Cardiomyopathy: Important New Insights. ( 30759487 )
2019
32
Association between atrial fibrillation and right-sided manifestations of congestive heart failure in dogs with degenerative mitral valve disease or dilated cardiomyopathy. ( 30797441 )
2019
33
Risk factors for atrial fibrillation in hypertrophic cardiomyopathy. ( 30727760 )
2019
34
Associations Between Multiple Circulating Biomarkers and the Presence of Atrial Fibrillation in Hypertrophic Cardiomyopathy with or Without Left Ventricular Outflow Tract Obstruction. ( 30626765 )
2019
35
Hypertrophic Cardiomyopathy in Patients with Atrial Fibrillation: Prevalence and Associated Stroke Risks in a Nationwide Cohort Study. ( 30602200 )
2019
36
Impacts of non-recovery of trastuzumab-induced cardiomyopathy on clinical outcomes in patients with breast cancer. ( 30737527 )
2019
37
Pheochromocytoma-related cardiomyopathy presenting as broken heart syndrome: Case report and literature review. ( 30641325 )
2019
38
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4. ( 30903008 )
2019
39
Circulating Long Non-coding RNA ENST00000507296 Is a Prognostic Indicator in Patients with Dilated Cardiomyopathy. ( 30852379 )
2019
40
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. ( 30856165 )
2019
41
Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy. ( 30858397 )
2019
42
Pathogenic RBM20-Variants Are Associated With a Severe Disease Expression in Male Patients With Dilated Cardiomyopathy. ( 30871348 )
2019
43
Molecular characterization of Portuguese patients with dilated cardiomyopathy. ( 30871747 )
2019
44
Improvement of the outcome in patients with infantile dilated cardiomyopathy over three decades - The usefulness of long-term gradually medical supportive care. ( 30876708 )
2019
45
Hypertrabeculation as a Noncompaction Phenotype in Dilated Cardiomyopathy Defined by Contrast Echocardiography. ( 30878434 )
2019
46
Molecular characterization of dilated cardiomyopathy. ( 30879898 )
2019
47
In patients with previous dilated cardiomyopathy, withdrawal of HF drugs increased relapse at 6 months. ( 30884498 )
2019
48
Mitochondrial genome variations in idiopathic dilated cardiomyopathy. ( 30910572 )
2019
49
Left bundle branch block in dilated cardiomyopathy with intermediate left ventricular dysfunction: Clinical phenotyping and outcome correlates. ( 30416030 )
2019
50
Thyroid-stimulating hormone within the normal range and risk of major adverse cardiovascular events in nonischemic dilated cardiomyopathy patients with severe left ventricular dysfunction. ( 30447088 )
2019

Variations for Atrial Standstill 1

UniProtKB/Swiss-Prot genetic disease variations for Atrial Standstill 1:

76
# Symbol AA change Variation ID SNP ID
1 GJA5 p.Pro88Ser VAR_035013 rs121434558
2 GJA5 p.Ala96Ser VAR_035014 rs121434557
3 SCN5A p.Asp1275Asn VAR_026373 rs137854618

ClinVar genetic disease variations for Atrial Standstill 1:

6 (show top 50) (show all 639)
# Gene Variation Type Significance SNP ID Assembly Location
1 TPM1 NM_001018005.1(TPM1): c.564-103G> A single nucleotide variant Uncertain significance rs528733046 GRCh37 Chromosome 15, 63353809: 63353809
2 TPM1 NM_001018005.1(TPM1): c.564-103G> A single nucleotide variant Uncertain significance rs528733046 GRCh38 Chromosome 15, 63061610: 63061610
3 TPM1 NM_001018005.1(TPM1): c.620delT (p.Leu207Argfs) deletion Uncertain significance rs587777905 GRCh37 Chromosome 15, 63353968: 63353968
4 TPM1 NM_001018005.1(TPM1): c.620delT (p.Leu207Argfs) deletion Uncertain significance rs587777905 GRCh38 Chromosome 15, 63061769: 63061769
5 MYL2 NM_000432.3(MYL2): c.4-14delC deletion Benign rs531661702 GRCh37 Chromosome 12, 111357011: 111357011
6 MYL2 NM_000432.3(MYL2): c.4-14delC deletion Benign rs531661702 GRCh38 Chromosome 12, 110919207: 110919207
7 TTR NM_000371.3(TTR): c.337-14_337-11delGTCT deletion Benign rs112263266 GRCh38 Chromosome 18, 31598554: 31598557
8 TTR NM_000371.3(TTR): c.337-14_337-11delGTCT deletion Benign rs112263266 GRCh37 Chromosome 18, 29178517: 29178520
9 MYBPC3 NM_000256.3(MYBPC3): c.1038_1042dupCGGCA (p.Met348Thrfs) duplication Pathogenic rs730880336 GRCh38 Chromosome 11, 47346255: 47346259
10 MYBPC3 NM_000256.3(MYBPC3): c.1038_1042dupCGGCA (p.Met348Thrfs) duplication Pathogenic rs730880336 GRCh37 Chromosome 11, 47367806: 47367810
11 TMEM43 NM_024334.2(TMEM43): c.796C> T (p.Arg266Trp) single nucleotide variant Uncertain significance rs139842014 GRCh37 Chromosome 3, 14177322: 14177322
12 TMEM43 NM_024334.2(TMEM43): c.796C> T (p.Arg266Trp) single nucleotide variant Uncertain significance rs139842014 GRCh38 Chromosome 3, 14135822: 14135822
13 TMEM43 NM_024334.2(TMEM43): c.865G> A (p.Gly289Arg) single nucleotide variant Uncertain significance rs730880226 GRCh37 Chromosome 3, 14177391: 14177391
14 TMEM43 NM_024334.2(TMEM43): c.865G> A (p.Gly289Arg) single nucleotide variant Uncertain significance rs730880226 GRCh38 Chromosome 3, 14135891: 14135891
15 TMEM43 NM_024334.2(TMEM43): c.1059C> G (p.Phe353Leu) single nucleotide variant Uncertain significance rs730880227 GRCh37 Chromosome 3, 14183151: 14183151
16 TMEM43 NM_024334.2(TMEM43): c.1059C> G (p.Phe353Leu) single nucleotide variant Uncertain significance rs730880227 GRCh38 Chromosome 3, 14141651: 14141651
17 LAMP2 NM_002294.2(LAMP2): c.742-10_742-8delTCT deletion Benign rs730880476 GRCh38 Chromosome X, 120446435: 120446437
18 LAMP2 NM_002294.2(LAMP2): c.742-10_742-8delTCT deletion Benign rs730880476 GRCh37 Chromosome X, 119580290: 119580292
19 LAMP2 NM_002294.2(LAMP2): c.588_589insCAACA (p.Val197Glnfs) insertion Pathogenic rs730880492 GRCh37 Chromosome X, 119581848: 119581849
20 LAMP2 NM_002294.2(LAMP2): c.588_589insCAACA (p.Val197Glnfs) insertion Pathogenic rs730880492 GRCh38 Chromosome X, 120447993: 120447994
21 LAMP2 NM_001122606.1(LAMP2): c.-26_-15dupGCCGTCGCCGCC duplication Uncertain significance rs1556124241 GRCh37 Chromosome X, 119603039: 119603050
22 LAMP2 NM_001122606.1(LAMP2): c.-26_-15dupGCCGTCGCCGCC duplication Uncertain significance rs1556124241 GRCh38 Chromosome X, 120469184: 120469195
23 ACTC1 LRG_388t1: c.129+17insC insertion Benign
24 MYBPC3 LRG_386t1: c.929insG insertion Benign
25 MYBPC3 LRG_386t1: c.3315del deletion Pathogenic
26 DSC2 NM_024422.4(DSC2): c.631-13dupA duplication Benign rs551337657 GRCh37 Chromosome 18, 28667789: 28667789
27 DSC2 NM_024422.4(DSC2): c.631-13dupA duplication Benign rs551337657 GRCh38 Chromosome 18, 31087826: 31087826
28 ANKRD1 NM_014391.2(ANKRD1): c.346-14_346-9delTATTTT deletion Benign/Likely benign rs773314113 GRCh38 Chromosome 10, 90918981: 90918986
29 ANKRD1 NM_014391.2(ANKRD1): c.346-14_346-9delTATTTT deletion Benign/Likely benign rs773314113 GRCh37 Chromosome 10, 92678738: 92678743
30 ANKRD1 NM_014391.2(ANKRD1): c.346-13_346-10delATTT deletion Conflicting interpretations of pathogenicity rs397517250 GRCh37 Chromosome 10, 92678739: 92678742
31 ANKRD1 NM_014391.2(ANKRD1): c.346-13_346-10delATTT deletion Conflicting interpretations of pathogenicity rs397517250 GRCh38 Chromosome 10, 90918982: 90918985
32 ANKRD1 NM_014391.2(ANKRD1): c.346-15_346-14delTT deletion Conflicting interpretations of pathogenicity rs794728971 GRCh37 Chromosome 10, 92678743: 92678744
33 ANKRD1 NM_014391.2(ANKRD1): c.346-15_346-14delTT deletion Conflicting interpretations of pathogenicity rs794728971 GRCh38 Chromosome 10, 90918986: 90918987
34 ANKRD1 NM_014391.2(ANKRD1): c.346-20_346-19delTT deletion Benign rs398014415 GRCh37 Chromosome 10, 92678748: 92678749
35 ANKRD1 NM_014391.2(ANKRD1): c.346-20_346-19delTT deletion Benign rs398014415 GRCh38 Chromosome 10, 90918991: 90918992
36 ILK NM_004517.3(ILK): c.448+13delC deletion Benign rs11314683 GRCh38 Chromosome 11, 6608802: 6608802
37 ILK NM_004517.3(ILK): c.448+13delC deletion Benign rs11314683 GRCh37 Chromosome 11, 6630033: 6630033
38 TTN NM_001256850.1(TTN): c.39893-1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs749705939 GRCh37 Chromosome 2, 179487495: 179487495
39 TTN NM_001256850.1(TTN): c.39893-1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs749705939 GRCh38 Chromosome 2, 178622768: 178622768
40 CHRM2 NM_001006630.1(CHRM2): c.1189A> G (p.Ile397Val) single nucleotide variant Uncertain significance rs745902607 GRCh38 Chromosome 7, 137016054: 137016054
41 CHRM2 NM_001006630.1(CHRM2): c.1189A> G (p.Ile397Val) single nucleotide variant Uncertain significance rs745902607 GRCh37 Chromosome 7, 136700801: 136700801
42 CSRP3 NM_003476.4(CSRP3): c.136A> C (p.Ser46Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs137852765 GRCh37 Chromosome 11, 19209828: 19209828
43 CSRP3 NM_003476.4(CSRP3): c.136A> C (p.Ser46Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs137852765 GRCh38 Chromosome 11, 19188281: 19188281
44 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic rs74315379 GRCh37 Chromosome 1, 201333464: 201333464
45 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic rs74315379 GRCh38 Chromosome 1, 201364336: 201364336
46 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh37 Chromosome 19, 55667607: 55667607
47 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh38 Chromosome 19, 55156239: 55156239
48 TNNI3 NM_000363.4(TNNI3): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs104894729 GRCh37 Chromosome 19, 55663260: 55663260
49 TNNI3 NM_000363.4(TNNI3): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs104894729 GRCh38 Chromosome 19, 55151892: 55151892
50 TTR NM_000371.3(TTR): c.424G> A (p.Val142Ile) single nucleotide variant Pathogenic rs76992529 GRCh37 Chromosome 18, 29178618: 29178618

Copy number variations for Atrial Standstill 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 20789 1 154318992 154376502 Deletion LMNA Cardiomyopathy
2 39890 10 121400871 121427319 Deletion BAG3 Cardiomyopathy
3 139275 2 178000000 180600000 Loss TTN Cardiomyopathy
4 140112 2 191900000 197400000 Loss HSP40 Cardiomyopathy
5 262125 X 31047265 33267647 Deletion DMD Cardiomyopathy

Expression for Atrial Standstill 1

Search GEO for disease gene expression data for Atrial Standstill 1.

Pathways for Atrial Standstill 1

Pathways related to Atrial Standstill 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 MYH7 PLN SCN1B SCN5A TNNI3 TNNT2
2
Show member pathways
12.59 ACTN2 MYBPC3 PLN SCN1B SCN5A TNNI3
3
Show member pathways
11.75 LMNA MYBPC3 MYH7 PLN TNNI3 TNNT2
4 11.56 MYH7 TNNI3 TNNT2 UQCRFS1
5 11.41 ACTN2 MYBPC3 TNNI3 TNNT2 TTN
6 11.33 SCN5A TNNI3 TNNT2
7 11.09 ACTN2 DSP GJA5
8 10.85 DSP GJA5 LMNA PLN SCN1B SCN5A

GO Terms for Atrial Standstill 1

Cellular components related to Atrial Standstill 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myofibril GO:0030016 9.58 MYH7 TNNI3 TNNT2
2 intercalated disc GO:0014704 9.56 DSP GJA5 SCN1B SCN5A
3 Z disc GO:0030018 9.55 ACTN2 MYBPC3 MYH7 SCN5A TTN
4 striated muscle thin filament GO:0005865 9.5 MYBPC3 TNNT2 TTN
5 myosin filament GO:0032982 9.48 MYBPC3 MYH7
6 voltage-gated sodium channel complex GO:0001518 9.46 SCN1B SCN5A
7 troponin complex GO:0005861 9.43 TNNI3 TNNT2
8 cardiac Troponin complex GO:1990584 9.37 TNNI3 TNNT2
9 cardiac myofibril GO:0097512 9.13 MYBPC3 TNNI3 TNNT2
10 sarcomere GO:0030017 9.1 ACTN2 MYBPC3 MYH7 TNNI3 TNNT2 TTN

Biological processes related to Atrial Standstill 1 according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.82 ACTN2 LAMP2 TTN
2 skeletal muscle contraction GO:0003009 9.69 MYH7 TNNI3 TNNT2
3 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.67 GJA5 SCN1B SCN5A
4 sarcomere organization GO:0045214 9.67 ACTN2 MYBPC3 TNNT2 TTN
5 membrane depolarization GO:0051899 9.65 SCN1B SCN5A
6 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.65 MIR1-2 PLN
7 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.65 MIR1-2 PLN
8 striated muscle contraction GO:0006941 9.65 MYH7 TNNI3 TTN
9 cardiac muscle tissue morphogenesis GO:0055008 9.64 MYBPC3 TTN
10 regulation of the force of heart contraction GO:0002026 9.63 MYH7 PLN
11 cardiac myofibril assembly GO:0055003 9.63 MYBPC3 TTN
12 negative regulation of ATPase activity GO:0032780 9.63 PLN TNNI3 TNNT2
13 muscle contraction GO:0006936 9.63 ACTN2 MYBPC3 MYH7 TNNI3 TNNT2 TTN
14 regulation of muscle contraction GO:0006937 9.62 TNNI3 TNNT2
15 ventricular cardiac muscle cell action potential GO:0086005 9.62 GJA5 SCN5A
16 regulation of heart rate by cardiac conduction GO:0086091 9.62 DSP GJA5 SCN1B SCN5A
17 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 SCN1B SCN5A
18 cardiac muscle fiber development GO:0048739 9.61 MYBPC3 TTN
19 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.61 GJA5 SCN1B SCN5A
20 positive regulation of sodium ion transport GO:0010765 9.6 SCN1B SCN5A
21 skeletal muscle thin filament assembly GO:0030240 9.59 MYBPC3 TTN
22 cardiac conduction GO:0061337 9.58 GJA5 SCN1B
23 regulation of cardiac muscle cell contraction GO:0086004 9.58 PLN SCN5A
24 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.58 GJA5 MIR1-2 SCN5A
25 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.57 SCN1B SCN5A
26 skeletal muscle myosin thick filament assembly GO:0030241 9.56 MYBPC3 TTN
27 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.56 MYBPC3 MYH7 TNNI3 TNNT2
28 SA node cell action potential GO:0086015 9.55 GJA5 SCN5A
29 AV node cell to bundle of His cell communication GO:0086067 9.54 GJA5 SCN5A
30 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.52 SCN1B SCN5A
31 muscle filament sliding GO:0030049 9.43 ACTN2 MYBPC3 MYH7 TNNI3 TNNT2 TTN
32 cardiac muscle contraction GO:0060048 9.17 MYBPC3 MYH7 SCN1B SCN5A TNNI3 TNNT2

Molecular functions related to Atrial Standstill 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.71 ACTN2 LAMP2 SCN5A TNNI3
2 ion channel binding GO:0044325 9.67 ACTN2 SCN1B SCN5A
3 actin binding GO:0003779 9.65 ACTN2 MYBPC3 MYH7 TNNI3 TNNT2
4 structural constituent of muscle GO:0008307 9.5 ACTN2 MYBPC3 TTN
5 voltage-gated sodium channel activity GO:0005248 9.48 SCN1B SCN5A
6 muscle alpha-actinin binding GO:0051371 9.46 MYBPC3 TTN
7 titin binding GO:0031432 9.43 ACTN2 MYBPC3
8 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.37 SCN1B SCN5A
9 troponin C binding GO:0030172 9.16 TNNI3 TNNT2
10 actin filament binding GO:0051015 9.02 ACTN2 MYBPC3 MYH7 TNNI3 TTN
11 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 8.96 SCN1B SCN5A

Sources for Atrial Standstill 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
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47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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