ATRST1
MCID: ATR087
MIFTS: 70

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 64 41 17
Heart Block 45 64 74
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 and cardiomyopathy, dilated, 1e, 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 Ticagrelor and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include heart, liver 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 1406)
# Related Disease Score Top Affiliating Genes
1 progressive familial heart block 34.8 DSP GJA5 TNNT2
2 cardiomyopathy, dilated, 1e 34.6 DSP LMNA MYH7 RBM20 TTN
3 cardiomyopathy, dilated, 3b 34.5 DMD TAZ
4 restrictive cardiomyopathy 34.5 ACTC1 MYBPC3 MYH7 TNNI3 TNNT2 TTN
5 cardiomyopathy, familial hypertrophic, 6 34.4 PRKAG2 TNNI3
6 cardiomyopathy, familial hypertrophic, 4 34.3 MYBPC3 TTN
7 arrhythmogenic right ventricular cardiomyopathy 34.2 DMD DSP LMNA MYH7 PKP2 PLN
8 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 34.1 DSP MYH7 RYR2
9 familial isolated restrictive cardiomyopathy 33.9 TNNI3 TNNT2
10 naxos disease 33.8 DSP PKP2
11 intrinsic cardiomyopathy 33.6 ACTC1 DMD DSP LMNA MYBPC3 MYH7
12 familial isolated dilated cardiomyopathy 33.5 ACTC1 DMD MYBPC3 MYH7 PLN RBM20
13 left ventricular noncompaction 33.5 ACTC1 DMD DSP LMNA MIPEP MYBPC3
14 arrhythmogenic right ventricular dysplasia, familial, 8 33.4 DSP PKP2 RYR2
15 arrhythmogenic right ventricular dysplasia, familial, 9 33.4 DSP PKP2 PLN RYR2
16 arrhythmogenic right ventricular dysplasia, familial, 1 33.4 DSP RYR2 TTN
17 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 32.7 DSP LMNA PKP2 RYR2 TTN
18 glycogen storage disease ii 32.6 DMD LAMP2 PRKAG2
19 myofibrillar myopathy 32.6 DMD LMNA TTN
20 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 32.5 DSP LMNA PKP2 RYR2 TTN
21 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 32.5 DSP LMNA PKP2 RYR2 TTN
22 congenital fiber-type disproportion 32.4 DMD LMNA MYH7
23 campomelic dysplasia 32.0 LMNA MYBPC3 RBM20 TTN
24 muscular dystrophy, congenital merosin-deficient, 1a 31.7 DMD LMNA
25 cardiac conduction defect 31.7 DSP LMNA MYBPC3 MYH7 PLN RYR2
26 myocarditis 31.3 DMD DSP TNNI3
27 ventricular fibrillation, paroxysmal familial, 1 31.0 DSP RYR2 TNNT2
28 heart disease 30.9 ACTC1 DSP GJA5 LMNA MYBPC3 MYH7
29 cardiac arrest 30.9 DSP MYBPC3 MYH7 PLN RYR2 TNNT2
30 wolff-parkinson-white syndrome 30.8 LAMP2 MYH7 PRKAG2 TNNI3
31 miyoshi muscular dystrophy 30.6 DMD MYH7 TTN
32 hypertrophic cardiomyopathy 30.6 ACTC1 DSP GLA LAMP2 LMNA MYBPC3
33 neuromuscular disease 30.4 DMD LMNA TTN
34 catecholaminergic polymorphic ventricular tachycardia 30.3 DSP MYBPC3 RYR2
35 fabry disease 30.2 GLA LAMP2 PRKAG2 TNNI3
36 rigid spine muscular dystrophy 1 30.2 DMD MYH7 TTN
37 first-degree atrioventricular block 30.2 GJA5 MYH7
38 cardiomyopathy, familial hypertrophic, 1 30.1 ACTC1 MYBPC3 MYH7 TNNI3 TNNT2 TTN
39 long qt syndrome 1 29.9 DSP PKP2 RYR2
40 muscular disease 29.8 DMD LAMP2 LMNA MYH7 RYR2 TAZ
41 dilated cardiomyopathy 29.7 ACTC1 DMD DSP GJA5 LAMP2 LMNA
42 heart block, congenital 12.8
43 progressive familial heart block, type ia 12.8
44 progressive familial heart block, type ib 12.7
45 progressive familial heart block, type ii 12.7
46 cardiomyopathy, infantile histiocytoid 12.6
47 peripartum cardiomyopathy 12.6
48 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 12.5
49 cardiomyopathy, dilated, 1kk 12.5
50 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction 12.5

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 10.21 ACTC1 DMD DSP GJA5 GLA LAMP2
2 homeostasis/metabolism MP:0005376 10 ACTC1 DMD GJA5 GLA LAMP2 LMNA
3 mortality/aging MP:0010768 9.73 ACTC1 DMD DSP GJA5 GLA LAMP2
4 muscle MP:0005369 9.53 ACTC1 DMD DSP GJA5 GLA LAMP2

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
Ticagrelor Approved Phase 4 274693-27-5 9871419
2
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
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
Atenolol Approved Phase 4 29122-68-7 2249
8
Nebivolol Approved, Investigational Phase 4 152520-56-4, 99200-09-6, 118457-14-0 71301
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 Purinergic P2 Receptor Antagonists Phase 4
13 Purinergic P2Y Receptor Antagonists Phase 4
14 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1
15 Platelet Aggregation Inhibitors Phase 4,Not Applicable
16 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Antihypertensive Agents Phase 4,Phase 2,Not Applicable
18 Autonomic Agents Phase 4,Phase 2,Not Applicable
19 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
20 Adrenergic Agonists Phase 4,Phase 2,Phase 3,Phase 1
21 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Adrenergic Agents Phase 4,Phase 2,Phase 3,Phase 1
23 Adrenergic beta-Agonists Phase 4,Phase 2
24 Technetium Tc 99m Sestamibi Phase 4
25 Radiopharmaceuticals Phase 4
26 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Not Applicable
27 Castor Phase 4
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
29 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
30 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Not Applicable
31 glucocorticoids Phase 4,Phase 3,Phase 2,Not Applicable
32 Potassium Channel Blockers Phase 4
33 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Not Applicable
34 Dopamine Antagonists Phase 4,Phase 3
35 Gastrointestinal Agents Phase 4,Not Applicable
36 Antiemetics Phase 4,Not Applicable
37 Dopamine Agents Phase 4,Phase 3
38 Dopamine D2 Receptor Antagonists Phase 4,Phase 3
39 Sympatholytics Phase 4,Phase 2
40 Vasodilator Agents Phase 4,Phase 2,Phase 1
41 Adrenergic beta-Antagonists Phase 4,Phase 2,Not Applicable
42 Adrenergic Antagonists Phase 4,Phase 2
43 Adrenergic beta-1 Receptor Antagonists Phase 4,Phase 2
44
Dexmedetomidine Approved, Vet_approved Phase 2, Phase 3,Phase 1 113775-47-6 5311068 68602
45
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029
46
Ofloxacin Approved Phase 3 82419-36-1 4583
47
Bacitracin Approved, Vet_approved Phase 3 1405-87-4 10909430 439542
48
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
49
Cephalexin Approved, Investigational, Vet_approved Phase 3 15686-71-2 27447
50
Polymyxin B Approved, Vet_approved Phase 3 1404-26-8

Interventional clinical trials:

(show top 50) (show all 248)
# Name Status NCT ID Phase Drugs
1 SmartTouch Catheter for Left Anterior Line - SmarT Line Study Unknown status NCT02217657 Phase 4
2 Ticagrelor and Clopidogrel on Reperfusion in Patients With AMI Unknown status NCT02233790 Phase 4 Ticagrelor;Clopidogrel
3 A Prospective Randomized Study Comparing Radiofrequency Energy With Cryoenergy Unknown status NCT00773539 Phase 4
4 Safety and Feasibility of Arrhythmia Ablation Using the Amigo Remote Robotic System as Compared With Manual Ablation Unknown status NCT01834872 Phase 4
5 Safety and the Effects of Isolated Left Ventricular Pacing in Patients With Bradyarrhythmias Unknown status NCT01717469 Phase 4
6 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
7 Resynchronization in Paced Heart Failure Patients With Implantable Cardioverter Defibrillator (ICD) Indication Unknown status NCT01415024 Phase 4
8 Right Ventricular Septal Pacing for the Prevention of Left Ventricular Dysfunction in Patients With Atrio-Ventricular Block Unknown status NCT00709774 Phase 4
9 Ventricular Pacing Site Selection (V-PASS) Unknown status NCT00292383 Phase 4
10 Efficacy of a Pacemaker Algorithm in Promotion of the Intrinsic Heart Activity. Unknown status NCT00156741 Phase 4
11 Arrhythmia Restart Prevention and RatE STabilization in Atrial Fibrillation Unknown status NCT00224341 Phase 4
12 Mode Evaluation in Sick Sinus Syndrome Trial (MODEST) Unknown status NCT00161551 Phase 4
13 Syncope: Pacing or Recording in the Later Years Completed NCT01423994 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 GJA5

Anatomical Context for Atrial Standstill 1

MalaCards organs/tissues related to Atrial Standstill 1:

42
Heart, Liver, Lung, Testes, Kidney, Brain, B Cells

Publications for Atrial Standstill 1

Articles related to Atrial Standstill 1:

(show top 50) (show all 5643)
# Title Authors Year
1
Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy. ( 30484169 )
2019
2
Transthyretin Amyloidosis Mimicking Obstructive Hypertrophic Cardiomyopathy: A Great Imitator. ( 30685204 )
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
Outcomes of Catheter Ablation in Arrhythmogenic Right Ventricular Cardiomyopathy Without Background Implantable Cardioverter Defibrillator Therapy: A Multicenter International Ventricular Tachycardia Registry. ( 30678787 )
2019
6
Tako-tsubo Cardiomyopathy Complicated With Cardiac Tamponade and Cardiogenic Shock. ( 29844005 )
2019
7
Bail-Out Alcohol Septal Ablation for Hypertrophic Obstructive Cardiomyopathy in a Patient With Takotsubo Cardiomyopathy-Induced Cardiogenic Shock. ( 30722691 )
2019
8
Carpal tunnel syndrome and spinal canal stenosis: harbingers of transthyretin amyloid cardiomyopathy? ( 30953182 )
2019
9
Characteristics of ventricular tachycardia and long-term treatment outcome in patients with dilated cardiomyopathy complicated by lamin A/C gene mutations. ( 31060954 )
2019
10
Reduced hybrid/complex N-glycosylation disrupts cardiac electrical signaling and calcium handling in a model of dilated cardiomyopathy. ( 31071333 )
2019
11
Dilated cardiomyopathy. ( 31073128 )
2019
12
Dilated cardiomyopathy. ( 31073134 )
2019
13
An Echocardiographic Evaluation of Dilated Cardiomyopathy in a Tertiary Care Hospital. ( 31080243 )
2019
14
Dilated Cardiomyopathy. ( 31082299 )
2019
15
Myocardial Fibrosis as a Pathway of Prediction of Ventricular Arrhythmias and Sudden Cardiac Death in Patients With Nonischemic Dilated Cardiomyopathy. ( 31094736 )
2019
16
Agreement between gadolinium-enhanced cardiac magnetic resonance and electro-anatomical maps in patients with non-ischaemic dilated cardiomyopathy and ventricular arrhythmias. ( 31102521 )
2019
17
Clinical characteristics, treatment and prognosis of patients with idiopathic dilated cardiomyopathy: a tertiary center experience. ( 31105752 )
2019
18
Genetic deletion of the alamandine receptor MRGD leads to dilated cardiomyopathy in mice. ( 30339496 )
2019
19
Prognostic significance of ventricular tachycardia clustering after catheter ablation in non-ischemic dilated cardiomyopathy. ( 30350253 )
2019
20
Galectin-3 deficiency ameliorates fibrosis and remodeling in dilated cardiomyopathy mice with enhanced Mst1 signaling. ( 30387702 )
2019
21
Ventricular Arterial Coupling: A Novel Echocardiographic Risk Factor for Disease Progression in Pediatric Dilated Cardiomyopathy. ( 30415380 )
2019
22
Left bundle branch block in dilated cardiomyopathy with intermediate left ventricular dysfunction: Clinical phenotyping and outcome correlates. ( 30416030 )
2019
23
Clinical efficacy of carvedilol treatment for dilated cardiomyopathy: A meta-analysis of randomized controlled trials. ( 31045794 )
2019
24
Superoxide dismutase activity as a predictor of adverse outcomes in patients with nonischemic dilated cardiomyopathy. ( 31041645 )
2019
25
Equilibrium Radionuclide Angiography in Evaluation of Left Ventricular Mechanical Dyssynchrony in Patients with Dilated Cardiomyopathy: Comparison with Electrocardiographic Parameters and Speckle-Tracking Echocardiography. ( 31040518 )
2019
26
Reversion of cardiac dysfunction by a novel orally available calcium/calmodulin-dependent protein kinase II inhibitor, RA306, in a genetic model of dilated cardiomyopathy. ( 31038167 )
2019
27
Association of intronic DNA methylation and hydroxymethylation alterations in the epigenetic etiology of dilated cardiomyopathy. ( 31026178 )
2019
28
Relationship of left atrial mechanics to electrical activity on surface electrocardiography in idiopathic dilated cardiomyopathy. ( 31024949 )
2019
29
Premature ventricular contraction-induced dilated cardiomyopathy: a case report. ( 31020258 )
2019
30
Tumor Necrosis Factor-α Gene Polymorphism (G-308A) and Dilated Cardiomyopathy. ( 31019168 )
2019
31
The altered expression of autophagy-related genes participates in heart failure: NRBP2 and CALCOCO2 are associated with left ventricular dysfunction parameters in human dilated cardiomyopathy. ( 31009519 )
2019
32
Sugars make the difference - Glycosylation of cardiodepressant antibodies regulates their activity in dilated cardiomyopathy. ( 31005416 )
2019
33
Effect of IL-6-mediated STAT3 signaling pathway on myocardial apoptosis in mice with dilated cardiomyopathy. ( 31002169 )
2019
34
The assembly and evaluation of antisense oligonucleotides applied in exon skipping for titin-based mutations in dilated cardiomyopathy. ( 30998980 )
2019
35
Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients. ( 30993396 )
2019
36
ECG in dilated cardiomyopathy: specific findings and long-term prognostic significance. ( 30985353 )
2019
37
Human Umbilical Cord Mesenchymal Stem Cells Alleviate Myocardial Endothelial-Mesenchymal Transition in a Rat Dilated Cardiomyopathy Model. ( 30979486 )
2019
38
Epigenetics in dilated cardiomyopathy. ( 30973397 )
2019
39
Defibrillator and non-ischaemic dilated cardiomyopathy: a never ending story. ( 30948933 )
2019
40
Small RNA-sequencing identified the potential roles of neuron differentiation and MAPK signaling pathway in dilated cardiomyopathy. ( 30948207 )
2019
41
Evaluation and management of ventricular tachycardia in patients with dilated cardiomyopathy. ( 30935495 )
2019
42
Metformin Enhances Autophagy and Provides Cardioprotection in δ-Sarcoglycan Deficiency-Induced Dilated Cardiomyopathy. ( 30922066 )
2019
43
Arrhythmic risk stratification in patients with dilated cardiomyopathy and intermediate left ventricular dysfunction. ( 30921270 )
2019
44
Cardiac-Specific Cre Induces Age-Dependent Dilated Cardiomyopathy (DCM) in Mice. ( 30917606 )
2019
45
Mitochondrial genome variations in idiopathic dilated cardiomyopathy. ( 30910572 )
2019
46
In patients with previous dilated cardiomyopathy, withdrawal of HF drugs increased relapse at 6 months. ( 30884498 )
2019
47
Molecular characterization of dilated cardiomyopathy. ( 30879898 )
2019
48
Hypertrabeculation as a Noncompaction Phenotype in Dilated Cardiomyopathy Defined by Contrast Echocardiography. ( 30878434 )
2019
49
Improvement of the outcome in patients with infantile dilated cardiomyopathy over three decades - The usefulness of long-term gradually medical supportive care. ( 30876708 )
2019
50
Molecular characterization of Portuguese patients with dilated cardiomyopathy. ( 30871747 )
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 5961)
# Gene Variation Type Significance SNP ID Assembly Location
1 CSRP3 NM_003476.4(CSRP3): c.136A> C (p.Ser46Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs137852765 GRCh37 Chromosome 11, 19209828: 19209828
2 CSRP3 NM_003476.4(CSRP3): c.136A> C (p.Ser46Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs137852765 GRCh38 Chromosome 11, 19188281: 19188281
3 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh38 Chromosome 19, 55156239: 55156239
4 TNNI3 NM_000363.4(TNNI3): c.586G> A (p.Asp196Asn) single nucleotide variant Likely pathogenic rs104894727 GRCh37 Chromosome 19, 55663249: 55663249
5 TNNI3 NM_000363.4(TNNI3): c.586G> A (p.Asp196Asn) single nucleotide variant Likely pathogenic rs104894727 GRCh38 Chromosome 19, 55151881: 55151881
6 TNNI3 NM_000363.4(TNNI3): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs104894729 GRCh37 Chromosome 19, 55663260: 55663260
7 TNNI3 NM_000363.4(TNNI3): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs104894729 GRCh38 Chromosome 19, 55151892: 55151892
8 TTR NM_000371.3(TTR): c.148G> A (p.Val50Met) single nucleotide variant Pathogenic rs28933979 GRCh37 Chromosome 18, 29172937: 29172937
9 TTR NM_000371.3(TTR): c.148G> A (p.Val50Met) single nucleotide variant Pathogenic rs28933979 GRCh38 Chromosome 18, 31592974: 31592974
10 TTR NM_000371.3(TTR): c.424G> A (p.Val142Ile) single nucleotide variant Pathogenic rs76992529 GRCh38 Chromosome 18, 31598655: 31598655
11 TTR NM_000371.3(TTR): c.328C> A (p.His110Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs121918074 GRCh37 Chromosome 18, 29175210: 29175210
12 TTR NM_000371.3(TTR): c.328C> A (p.His110Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs121918074 GRCh38 Chromosome 18, 31595247: 31595247
13 LMNA NM_170707.3(LMNA): c.1930C> T (p.Arg644Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142000963 GRCh38 Chromosome 1, 156138719: 156138719
14 ACTC1 NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922680 GRCh37 Chromosome 15, 35085599: 35085599
15 ACTC1 NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922680 GRCh38 Chromosome 15, 34793398: 34793398
16 ABCC9 NM_020297.3(ABCC9): c.4512+814C> T single nucleotide variant Uncertain significance rs387906805 GRCh37 Chromosome 12, 21958118: 21958118
17 ABCC9 NM_020297.3(ABCC9): c.4512+814C> T single nucleotide variant Uncertain significance rs387906805 GRCh38 Chromosome 12, 21805184: 21805184
18 TPM1 NM_001018005.1(TPM1): c.644C> T (p.Ser215Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs199476316 GRCh37 Chromosome 15, 63354418: 63354418
19 TPM1 NM_001018005.1(TPM1): c.644C> T (p.Ser215Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs199476316 GRCh38 Chromosome 15, 63062219: 63062219
20 ABCC9 NM_005691.3(ABCC9): c.2554C> T (p.Gln852Ter) single nucleotide variant Likely pathogenic rs193922683 GRCh38 Chromosome 12, 21852457: 21852457
21 ABCC9 NM_005691.3(ABCC9): c.2631G> A (p.Thr877=) single nucleotide variant Benign/Likely benign rs139408145 GRCh37 Chromosome 12, 22005314: 22005314
22 ABCC9 NM_005691.3(ABCC9): c.2631G> A (p.Thr877=) single nucleotide variant Benign/Likely benign rs139408145 GRCh38 Chromosome 12, 21852380: 21852380
23 ABCC9 NM_005691.3(ABCC9): c.2644-11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs61926078 GRCh37 Chromosome 12, 22005167: 22005167
24 ABCC9 NM_005691.3(ABCC9): c.2644-11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs61926078 GRCh38 Chromosome 12, 21852233: 21852233
25 ABCC9 NM_005691.3(ABCC9): c.3321C> T (p.Ile1107=) single nucleotide variant Benign rs35404804 GRCh37 Chromosome 12, 21995400: 21995400
26 ABCC9 NM_005691.3(ABCC9): c.3321C> T (p.Ile1107=) single nucleotide variant Benign rs35404804 GRCh38 Chromosome 12, 21842466: 21842466
27 ABCC9 NM_005691.3(ABCC9): c.3768T> C (p.Leu1256=) single nucleotide variant Benign rs150303433 GRCh37 Chromosome 12, 21971087: 21971087
28 ABCC9 NM_005691.3(ABCC9): c.3768T> C (p.Leu1256=) single nucleotide variant Benign rs150303433 GRCh38 Chromosome 12, 21818153: 21818153
29 ABCC9 NM_005691.3(ABCC9): c.4450-5del deletion Conflicting interpretations of pathogenicity rs4148680 GRCh37 Chromosome 12, 21958999: 21958999
30 ABCC9 NM_005691.3(ABCC9): c.4450-5del deletion Conflicting interpretations of pathogenicity rs4148680 GRCh38 Chromosome 12, 21806065: 21806065
31 ABCC9 NM_005691.3(ABCC9): c.789C> T (p.Cys263=) single nucleotide variant Benign rs58386780 GRCh37 Chromosome 12, 22068629: 22068629
32 ABCC9 NM_005691.3(ABCC9): c.789C> T (p.Cys263=) single nucleotide variant Benign rs58386780 GRCh38 Chromosome 12, 21915695: 21915695
33 ACTC1 NM_005159.4(ACTC1): c.129+19_129+20insT insertion Conflicting interpretations of pathogenicity rs386134228 GRCh37 Chromosome 15, 35086861: 35086862
34 ACTC1 NM_005159.4(ACTC1): c.129+19_129+20insT insertion Conflicting interpretations of pathogenicity rs386134228 GRCh38 Chromosome 15, 34794660: 34794661
35 ACTN2 NM_001103.3(ACTN2): c.165C> T (p.Ala55Ala=) single nucleotide variant Likely benign rs193922634 GRCh37 Chromosome 1, 236881196: 236881196
36 ACTN2 NM_001103.3(ACTN2): c.165C> T (p.Ala55Ala=) single nucleotide variant Likely benign rs193922634 GRCh38 Chromosome 1, 236717896: 236717896
37 ACTN2 NM_001103.3(ACTN2): c.2139G> A (p.Thr713Thr=) single nucleotide variant Benign/Likely benign rs34975493 GRCh37 Chromosome 1, 236918483: 236918483
38 ACTN2 NM_001103.3(ACTN2): c.2139G> A (p.Thr713Thr=) single nucleotide variant Benign/Likely benign rs34975493 GRCh38 Chromosome 1, 236755183: 236755183
39 ACTN2 NM_001103.3(ACTN2): c.2147C> T (p.Thr716Met) single nucleotide variant Conflicting interpretations of pathogenicity rs193922635 GRCh37 Chromosome 1, 236918491: 236918491
40 ACTN2 NM_001103.3(ACTN2): c.2147C> T (p.Thr716Met) single nucleotide variant Conflicting interpretations of pathogenicity rs193922635 GRCh38 Chromosome 1, 236755191: 236755191
41 ACTN2 NM_001103.3(ACTN2): c.2577C> T (p.Ala859Ala=) single nucleotide variant Likely benign rs193922636 GRCh37 Chromosome 1, 236925811: 236925811
42 ACTN2 NM_001103.3(ACTN2): c.2577C> T (p.Ala859Ala=) single nucleotide variant Likely benign rs193922636 GRCh38 Chromosome 1, 236762511: 236762511
43 CSRP3 NM_003476.4(CSRP3): c.365G> A (p.Arg122Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs193922667 GRCh37 Chromosome 11, 19207812: 19207812
44 CSRP3 NM_003476.4(CSRP3): c.365G> A (p.Arg122Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs193922667 GRCh38 Chromosome 11, 19186265: 19186265
45 DSP NM_004415.2(DSP): c.1dupA (p.Met1Asnfs) duplication Benign rs17133512 GRCh38 Chromosome 6, 7541916: 7541916
46 DSP NM_004415.2(DSP): c.105G> A (p.Gly35=) single nucleotide variant Benign/Likely benign rs77445784 GRCh37 Chromosome 6, 7542253: 7542253
47 DSP NM_004415.2(DSP): c.105G> A (p.Gly35=) single nucleotide variant Benign/Likely benign rs77445784 GRCh38 Chromosome 6, 7542020: 7542020
48 DSP NM_004415.3(DSP): c.1384_1386delATT (p.Ile462del) deletion Likely pathogenic rs193922668 GRCh37 Chromosome 6, 7568787: 7568789
49 DSP NM_004415.3(DSP): c.1384_1386delATT (p.Ile462del) deletion Likely pathogenic rs193922668 GRCh38 Chromosome 6, 7568554: 7568556
50 DSP NM_004415.3(DSP): c.1702-18C> T single nucleotide variant Uncertain significance rs148417566 GRCh37 Chromosome 6, 7571598: 7571598

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 ACTC1 MYH7 PLN RYR2 TNNI3 TNNT2
2
Show member pathways
12.64 DMD MYBPC3 PLN RYR2 TNNI3 TNNT2
3
Show member pathways
12.27 ACTC1 GJA5 PLN RYR2
4 12.25 ACTC1 LMNA TNNI3 TNNT2
5
Show member pathways
12.21 DMD DSP LMNA PKP2 RYR2
6
Show member pathways
11.61 ACTC1 DMD LMNA MYBPC3 MYH7 PLN
7 11.55 ACTC1 MYH7 RYR2 TNNI3 TNNT2
8 11.33 ACTC1 TNNI3 TNNT2
9 11.3 DSP GJA5 LMNA PLN RYR2
10 11.29 ACTC1 DMD MYBPC3 TNNI3 TNNT2 TTN

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 intercalated disc GO:0014704 9.58 DSP GJA5 PKP2
2 myofibril GO:0030016 9.56 DMD MYH7 TNNI3 TNNT2
3 Z disc GO:0030018 9.55 DMD MYBPC3 MYH7 RYR2 TTN
4 striated muscle thin filament GO:0005865 9.5 MYBPC3 TNNT2 TTN
5 I band GO:0031674 9.48 ACTC1 TTN
6 myosin filament GO:0032982 9.46 MYBPC3 MYH7
7 troponin complex GO:0005861 9.43 TNNI3 TNNT2
8 cardiac Troponin complex GO:1990584 9.37 TNNI3 TNNT2
9 sarcomere GO:0030017 9.17 ACTC1 MYBPC3 MYH7 RYR2 TNNI3 TNNT2
10 cardiac myofibril GO:0097512 9.13 MYBPC3 TNNI3 TNNT2

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.95 GJA5 PKP2 RBM20 TAZ TNNI3
2 cellular calcium ion homeostasis GO:0006874 9.8 PLN RYR2 TNNI3
3 sarcomere organization GO:0045214 9.77 MYBPC3 TNNT2 TTN
4 regulation of heart rate by cardiac conduction GO:0086091 9.76 DSP GJA5 PKP2
5 regulation of heart rate GO:0002027 9.73 DMD MYH7 RYR2
6 muscle contraction GO:0006936 9.73 MYBPC3 MYH7 TAZ TNNI3 TNNT2 TTN
7 skeletal muscle contraction GO:0003009 9.71 MYH7 TNNI3 TNNT2
8 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.7 DMD PLN RYR2
9 cardiac muscle tissue morphogenesis GO:0055008 9.69 ACTC1 MYBPC3 TTN
10 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.67 DMD PLN
11 cardiac myofibril assembly GO:0055003 9.67 ACTC1 MYBPC3 TTN
12 regulation of cardiac muscle contraction GO:0055117 9.66 GJA5 RYR2
13 muscle cell cellular homeostasis GO:0046716 9.66 DMD LAMP2
14 regulation of the force of heart contraction GO:0002026 9.65 MYH7 PLN
15 regulation of muscle contraction GO:0006937 9.65 TNNI3 TNNT2
16 cardiac muscle tissue development GO:0048738 9.65 PLN TAZ
17 ventricular cardiac muscle cell action potential GO:0086005 9.65 GJA5 PKP2 RYR2
18 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.64 DMD PLN
19 cardiac muscle fiber development GO:0048739 9.64 MYBPC3 TTN
20 response to muscle stretch GO:0035994 9.63 DMD RYR2
21 striated muscle contraction GO:0006941 9.63 MYH7 TNNI3 TTN
22 heart contraction GO:0060047 9.62 ACTC1 TNNI3
23 cardiac muscle hypertrophy GO:0003300 9.62 RYR2 TTN
24 skeletal muscle myosin thick filament assembly GO:0030241 9.61 MYBPC3 TTN
25 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.61 RYR2 TNNI3
26 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.61 GJA5 PKP2 RYR2
27 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.6 DSP PKP2
28 regulation of atrial cardiac muscle cell action potential GO:0098910 9.58 GJA5 RYR2
29 skeletal muscle thin filament assembly GO:0030240 9.58 ACTC1 MYBPC3 TTN
30 regulation of AV node cell action potential GO:0098904 9.57 GJA5 RYR2
31 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.55 MYBPC3 MYH7 PKP2 TNNI3 TNNT2
32 negative regulation of ATPase activity GO:0032780 9.54 PLN TNNI3 TNNT2
33 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.5 DSP PKP2 RYR2
34 muscle filament sliding GO:0030049 9.5 ACTC1 DMD MYBPC3 MYH7 TNNI3 TNNT2
35 cardiac muscle contraction GO:0060048 9.28 ACTC1 DMD MYBPC3 MYH7 RYR2 TAZ

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.67 MYBPC3 MYH7 TNNI3 TTN
2 actin binding GO:0003779 9.55 DMD MYBPC3 MYH7 TNNI3 TNNT2
3 structural constituent of muscle GO:0008307 9.43 DMD MYBPC3 TTN
4 muscle alpha-actinin binding GO:0051371 9.4 MYBPC3 TTN
5 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.32 DSP PKP2
6 troponin C binding GO:0030172 8.96 TNNI3 TNNT2
7 myosin binding GO:0017022 8.8 ACTC1 DMD MYBPC3

Sources for Atrial Standstill 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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70 SNOMED-CT via HPO
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