ATRST1
MCID: ATR087
MIFTS: 67

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 57 75 29 6
Heart Block 44 63 73
Cardiomyopathy, Familial, with Conduction Disturbance 57 73
Atrial Cardiomyopathy with Heart Block 57 75
Cardiomyopathies 44 73
Cardiomyopathy 63 40
Atrst1 57 75
Familial Cardiomyopathy with Conduction Disturbance 75
Atrial Standstill, Digenic 57
Standstill, Atrial, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
atrial standstill 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Atrial Standstill 1

PubMed Health : 63 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 heart block, 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 Cardiac conduction and Aldosterone synthesis and secretion. Affiliated tissues include heart, lung and endothelial, and related phenotypes are first degree atrioventricular block and endocardial fibroelastosis

OMIM : 57 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 : 75 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 1172)
# Related Disease Score Top Affiliating Genes
1 progressive familial heart block, type ia 34.6 GJA5 SCN5A
2 progressive familial heart block 34.3 DSP GJA5 SCN1B SCN5A TNNT2
3 restrictive cardiomyopathy 34.1 MYBPC3 MYH7 TNNI3 TNNT2 TTN TTR
4 cardiomyopathy, dilated, 1e 34.1 DSP LMNA MYH7 SCN5A TTN
5 peripartum cardiomyopathy 34.0 MYH7 TTN
6 arrhythmogenic right ventricular cardiomyopathy 33.9 ACTN2 DSG2 DSP LMNA MYH7 PLN
7 cardiomyopathy, familial hypertrophic, 4 33.7 MYBPC3 TTN
8 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 33.5 DSG2 DSP MYH7 SCN5A
9 familial isolated restrictive cardiomyopathy 33.5 TNNI3 TNNT2
10 intrinsic cardiomyopathy 33.4 DSG2 DSP LMNA MYBPC3 MYH7 SCN5A
11 familial isolated dilated cardiomyopathy 33.4 ACTN2 DSG2 MYBPC3 MYH7 PLN SCN5A
12 left ventricular noncompaction 33.3 ACTN2 DSP LMNA MIPEP MYBPC3 MYH7
13 familial progressive cardiac conduction defect 33.2 SCN1B SCN5A
14 atrial standstill 32.8 GJA5 SCN5A
15 arrhythmogenic right ventricular dysplasia, familial, 1 32.6 DSG2 DSP TTN
16 arrhythmogenic right ventricular dysplasia, familial, 9 32.6 DSP PLN
17 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 32.4 DSG2 DSP LMNA TTN
18 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 32.2 DSG2 DSP LMNA TTN
19 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 32.2 DSG2 DSP LMNA TTN
20 campomelic dysplasia 31.6 LMNA MYBPC3 TTN
21 cardiac conduction defect 31.2 DSP LMNA MYBPC3 MYH7 PLN SCN5A
22 syncope 30.7 ACTN2 SCN5A TTN
23 heart disease 30.5 DSP GJA5 LMNA MIR320A MYBPC3 MYH7
24 atrial fibrillation 30.4 GJA5 MYBPC3 SCN1B SCN5A
25 sick sinus syndrome 30.4 LMNA SCN5A TTN
26 hypertrophic cardiomyopathy 30.3 ACTN2 DSP LAMP2 LMNA MYBPC3 MYH7
27 endocardial fibroelastosis 30.2 ACTN2 MYH7
28 cardiac arrest 30.1 DSP MYBPC3 MYH7 PLN SCN5A TNNT2
29 ventricular fibrillation, paroxysmal familial, 1 30.1 DSP SCN5A TNNT2
30 wolff-parkinson-white syndrome 30.1 LAMP2 MYH7 TNNI3
31 cardiomyopathy, familial hypertrophic, 1 30.0 MYBPC3 MYH7 TNNI3 TNNT2 TTN
32 catecholaminergic polymorphic ventricular tachycardia 30.0 DSG2 MYBPC3 SCN5A
33 first-degree atrioventricular block 29.9 GJA5 MYH7 SCN5A
34 dilated cardiomyopathy 29.6 ACTN2 DSG2 DSP GJA5 LAMP2 LMNA
35 heart block, congenital 12.8
36 progressive familial heart block, type ib 12.7
37 progressive familial heart block, type ii 12.7
38 cardiomyopathy, infantile histiocytoid 12.5
39 cardiomyopathy, dilated, 3b 12.5
40 cardiomyopathy, dilated, with woolly hair and keratoderma 12.4
41 sino-auricular heart block 12.4
42 cardiomyopathy, dilated, 1b 12.4
43 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 12.4
44 cardiomyopathy, dilated, 1o 12.4
45 cardiomyopathy, dilated, 1x 12.4
46 cardiomyopathy, dilated, 1a 12.4
47 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 12.4
48 cardiomyopathy, dilated, 1kk 12.4
49 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction 12.3
50 cardiomyopathy, dilated, 1h 12.3

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

Symptoms via clinical synopsis from OMIM:

57
Lab:
endocardial fibroelastosis

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


Clinical features from OMIM:

108770

Human phenotypes related to Atrial Standstill 1:

32
# Description HPO Frequency HPO Source Accession
1 first degree atrioventricular block 32 HP:0011705
2 endocardial fibroelastosis 32 HP:0001706
3 atrial standstill 32 HP:0025478
4 atrial cardiomyopathy 32 HP:0200127
5 premature atrial contractions 32 HP:0006699

UMLS symptoms related to Atrial Standstill 1:


angina pectoris, edema, chest pain

MGI Mouse Phenotypes related to Atrial Standstill 1:

46
# 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: 63

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.

Search Clinical Trials , NIH Clinical Center for Atrial Standstill 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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 29 GJA5

Anatomical Context for Atrial Standstill 1

MalaCards organs/tissues related to Atrial Standstill 1:

41
Heart, Lung, Endothelial, Testes, Skin, Kidney, Eye

Publications for Atrial Standstill 1

Articles related to Atrial Standstill 1:

(show top 50) (show all 1223)
# Title Authors Year
1
Acute rheumatic fever presenting as complete heart block: report of an adolescent case and review of literature. ( 29440244 )
2018
2
Case of an Intracranial Malignant Peripheral Nerve Sheath Tumor in the Setting of Pacer-dependent Heart Block. ( 29492148 )
2018
3
Syncope caused by complete heart block and ventricular arrhythmia as early manifestation of systemic lupus erythematosus in a pregnant patient: a case report. ( 29954280 )
2018
4
Heart Block, Ptosis, and Diagnostic Funduscopic Examination: Problems of the Heart Seen Through the Eyes. ( 29731029 )
2018
5
Expanding the electrical phenotype of NKX2-5 mutations: Ventricular tachycardia, atrial fibrillation, and complete heart block within one family. ( 30479953 )
2018
6
Kimura's Disease Presenting as Proliferative Glomerulonephritis with Complete Heart Block. ( 29962683 )
2018
7
Graves' disease-induced complete heart block and asystole. ( 29707485 )
2018
8
Advanced Heart Block in Children with Lyme Disease. ( 30377753 )
2018
9
Neuroblastoma, opsoclonus-myoclonus ataxia syndrome and neonatal lupus with congenital heart block: is there an association? ( 30282557 )
2018
10
Resolution of sinus bradycardia, high-grade heart block, and left ventricular systolic dysfunction with rituximab therapy in Henoch-Schonlein purpura. ( 29984516 )
2018
11
Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2. ( 29922018 )
2018
12
Coronary Sinus Catheter-Induced Heart Block During Aortic Valve Replacement: A Case Report. ( 29028640 )
2018
13
An unusual course of anti-Ro antibody-mediated fetal complete heart block. ( 29110745 )
2018
14
Cope's sign and complete heart block in a 78-year-old patient with biliary colic. ( 29162403 )
2018
15
Skin aging parameters: A window to heart block. ( 29168986 )
2018
16
Hypothermia and severe first-degree heart block. ( 29328902 )
2018
17
High degree heart block following suicide attempt by hanging. ( 29338901 )
2018
18
Atrial flutter in fetus with immune-mediated complete heart block. ( 29363825 )
2018
19
Heart Block After Discharge in Patients Undergoing TAVR With Latest-Generation Valves. ( 29406864 )
2018
20
Complete Atrioventricular Heart Block From an Epilepsy Treatment. ( 29429780 )
2018
21
European families reveal MHC class I and II associations with autoimmune-mediated congenital heart block. ( 29453219 )
2018
22
Multimodality imaging in differential diagnosis in patient with fever and complete heart block. ( 29474533 )
2018
23
Complete Heart Block due to Occlusion of Jailed Septal Perforator after Percutaneous Coronay Intervention of Proximal Left Anterior Descending Artery. ( 29482688 )
2018
24
Complete heart block by lacosamide. ( 29496248 )
2018
25
Dissecting the pathophysiology of complete heart block in takotsubo syndrome. ( 29510244 )
2018
26
Response to the letter to the editor: Complete heart block and Takotsubo syndrome: Dissecting the pathophysiology. ( 29510245 )
2018
27
Unexpected heart block in the delivery room: the utility of ECG monitoring. ( 29567818 )
2018
28
Collapse in the elderly: rivastigmine-induced heart block and a literature review of the pharmacology of acetylcholinesterase inhibitors used in Alzheimer's disease. ( 29666099 )
2018
29
Thermal burn resulting from prolonged transcutaneous pacing in a patient with complete heart block. ( 29691105 )
2018
30
Supraventricular tachycardia with complete heart block. ( 29697166 )
2018
31
Very late occurrence of complete heart block without preexisting atrioventricular conduction abnormalities: A rare complication after transaortic valvular replacement. ( 29876294 )
2018
32
Isolated left bundle branch block progressing to complete heart block and asystole: A novel presentation of a desmin mutation. ( 29915714 )
2018
33
A Rare Case of Complete Heart Block in a Young Patient. ( 29984004 )
2018
34
Thyroid Storm and Complete Heart Block after Treatment with Radioactive Iodine. ( 29992062 )
2018
35
Kawasaki disease: multiple giant coronary aneurysms intervention and pacemaker implantation due to complete heart block-a case report. ( 29607197 )
2018
36
Rare presentation of Guillain-Barre syndrome with complete heart block and neuropathic chest pain mimicking acute coronary syndrome: a case report ( 30415521 )
2018
37
A Case of Complete Heart Block With Diagnostic Challenge and Therapeutic Dilemma. ( 30035143 )
2018
38
Complete heart block in young adult with acute rheumatic fever. ( 30350813 )
2018
39
Swinging beats: transient heart block in cardiac lymphoma. ( 30039382 )
2018
40
Anti-Ro antibodies and complete heart block in adults with Sjögren's syndrome. ( 30071943 )
2018
41
Posterior Spinal Fusion in a Scoliotic Patient with Congenital Heart Block Treated with Pacemaker: An Intraoperative Technical Difficulty. ( 30086081 )
2018
42
The prevention, screening and treatment of congenital heart block from neonatal lupus: a survey of provider practices. ( 30137589 )
2018
43
Congenital complete heart block in pregnancy. ( 30144384 )
2018
44
Complete Heart Block in Acute Aortic Dissection: An Unusual Presentation. ( 30146081 )
2018
45
Rapid complete atrioventricular heart block reversal due to Lyme carditis. ( 30181836 )
2018
46
A running suture line for aortic valve replacement does not increase the rate of postoperative complete heart block. ( 30209776 )
2018
47
Could Timing Be Everything for Antibody-Mediated Congenital Heart Block? ( 30309473 )
2018
48
Dual-Site Ventricular Pacing in Patients With Fontan Physiology and Heart Block: Does it Mitigate the Detrimental Effects of Single-Site Ventricular Pacing? ( 30336874 )
2018
49
Spontaneous rupture of right aortic sinus of Valsalva leading to massive cystic dissection of interventricular septum and complete heart block. ( 30338557 )
2018
50
Pyridostigmine induced heart block requiring ICU admission. ( 30357043 )
2018

Variations for Atrial Standstill 1

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

75
# 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 540)
# 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 GLA NM_000169.2(GLA): c.427G> A (p.Ala143Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894845 GRCh37 Chromosome X, 100656740: 100656740
4 GLA NM_000169.2(GLA): c.427G> A (p.Ala143Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894845 GRCh38 Chromosome X, 101401752: 101401752
5 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic rs74315379 GRCh37 Chromosome 1, 201333464: 201333464
6 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic rs74315379 GRCh38 Chromosome 1, 201364336: 201364336
7 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh37 Chromosome 19, 55667607: 55667607
8 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh38 Chromosome 19, 55156239: 55156239
9 TNNI3 NM_000363.4(TNNI3): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs104894729 GRCh37 Chromosome 19, 55663260: 55663260
10 TNNI3 NM_000363.4(TNNI3): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs104894729 GRCh38 Chromosome 19, 55151892: 55151892
11 TTR NM_000371.3(TTR): c.424G> A (p.Val142Ile) single nucleotide variant Pathogenic rs76992529 GRCh37 Chromosome 18, 29178618: 29178618
12 TTR NM_000371.3(TTR): c.424G> A (p.Val142Ile) single nucleotide variant Pathogenic rs76992529 GRCh38 Chromosome 18, 31598655: 31598655
13 DSP NM_004415.3(DSP): c.88G> A (p.Val30Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121912998 GRCh37 Chromosome 6, 7542236: 7542236
14 DSP NM_004415.3(DSP): c.88G> A (p.Val30Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121912998 GRCh38 Chromosome 6, 7542003: 7542003
15 TPM1 NM_001018005.1(TPM1): c.644C> T (p.Ser215Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs199476316 GRCh37 Chromosome 15, 63354418: 63354418
16 TPM1 NM_001018005.1(TPM1): c.644C> T (p.Ser215Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs199476316 GRCh38 Chromosome 15, 63062219: 63062219
17 ABCC9 NM_005691.3(ABCC9): c.-11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs72559432 GRCh37 Chromosome 12, 22089619: 22089619
18 ABCC9 NM_005691.3(ABCC9): c.-11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs72559432 GRCh38 Chromosome 12, 21936685: 21936685
19 ABCC9 NM_005691.3(ABCC9): c.1165-6delT deletion Benign/Likely benign rs35857705 GRCh37 Chromosome 12, 22063252: 22063252
20 ABCC9 NM_005691.3(ABCC9): c.1165-6delT deletion Benign/Likely benign rs35857705 GRCh38 Chromosome 12, 21910318: 21910318
21 ABCC9 NM_005691.3(ABCC9): c.2200G> A (p.Val734Ile) single nucleotide variant Benign/Likely benign rs61688134 GRCh37 Chromosome 12, 22017410: 22017410
22 ABCC9 NM_005691.3(ABCC9): c.2200G> A (p.Val734Ile) single nucleotide variant Benign/Likely benign rs61688134 GRCh38 Chromosome 12, 21864476: 21864476
23 ABCC9 NM_005691.3(ABCC9): c.2554C> T (p.Gln852Ter) single nucleotide variant Likely pathogenic rs193922683 GRCh37 Chromosome 12, 22005391: 22005391
24 ABCC9 NM_005691.3(ABCC9): c.2554C> T (p.Gln852Ter) single nucleotide variant Likely pathogenic rs193922683 GRCh38 Chromosome 12, 21852457: 21852457
25 ABCC9 NM_005691.3(ABCC9): c.2631G> A (p.Thr877=) single nucleotide variant Benign/Likely benign rs139408145 GRCh37 Chromosome 12, 22005314: 22005314
26 ABCC9 NM_005691.3(ABCC9): c.2631G> A (p.Thr877=) single nucleotide variant Benign/Likely benign rs139408145 GRCh38 Chromosome 12, 21852380: 21852380
27 ABCC9 NM_005691.3(ABCC9): c.2644-11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs61926078 GRCh37 Chromosome 12, 22005167: 22005167
28 ABCC9 NM_005691.3(ABCC9): c.2644-11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs61926078 GRCh38 Chromosome 12, 21852233: 21852233
29 ABCC9 NM_005691.3(ABCC9): c.3321C> T (p.Ile1107=) single nucleotide variant Benign rs35404804 GRCh37 Chromosome 12, 21995400: 21995400
30 ABCC9 NM_005691.3(ABCC9): c.3321C> T (p.Ile1107=) single nucleotide variant Benign rs35404804 GRCh38 Chromosome 12, 21842466: 21842466
31 ABCC9 NM_005691.3(ABCC9): c.3768T> C (p.Leu1256=) single nucleotide variant Benign rs150303433 GRCh37 Chromosome 12, 21971087: 21971087
32 ABCC9 NM_005691.3(ABCC9): c.3768T> C (p.Leu1256=) single nucleotide variant Benign rs150303433 GRCh38 Chromosome 12, 21818153: 21818153
33 ABCC9 NM_005691.3(ABCC9): c.4450-5delT deletion Conflicting interpretations of pathogenicity rs4148680 GRCh37 Chromosome 12, 21958999: 21958999
34 ABCC9 NM_005691.3(ABCC9): c.4450-5delT deletion Conflicting interpretations of pathogenicity rs4148680 GRCh38 Chromosome 12, 21806065: 21806065
35 ABCC9 NM_005691.3(ABCC9): c.789C> T (p.Cys263=) single nucleotide variant Benign rs58386780 GRCh37 Chromosome 12, 22068629: 22068629
36 ABCC9 NM_005691.3(ABCC9): c.789C> T (p.Cys263=) single nucleotide variant Benign rs58386780 GRCh38 Chromosome 12, 21915695: 21915695
37 ACTC1 NM_005159.4(ACTC1): c.129+19_129+20insT insertion Conflicting interpretations of pathogenicity rs386134228 GRCh37 Chromosome 15, 35086861: 35086862
38 ACTC1 NM_005159.4(ACTC1): c.129+19_129+20insT insertion Conflicting interpretations of pathogenicity rs386134228 GRCh38 Chromosome 15, 34794660: 34794661
39 ACTN2 NM_001103.3(ACTN2): c.165C> T (p.Ala55Ala=) single nucleotide variant Likely benign rs193922634 GRCh37 Chromosome 1, 236881196: 236881196
40 ACTN2 NM_001103.3(ACTN2): c.165C> T (p.Ala55Ala=) single nucleotide variant Likely benign rs193922634 GRCh38 Chromosome 1, 236717896: 236717896
41 ACTN2 NM_001103.3(ACTN2): c.2139G> A (p.Thr713Thr=) single nucleotide variant Benign/Likely benign rs34975493 GRCh37 Chromosome 1, 236918483: 236918483
42 ACTN2 NM_001103.3(ACTN2): c.2139G> A (p.Thr713Thr=) single nucleotide variant Benign/Likely benign rs34975493 GRCh38 Chromosome 1, 236755183: 236755183
43 ALMS1 NM_015120.4: c.12112-8delT deletion Uncertain significance
44 ACTN2 NM_001103.3(ACTN2): c.2147C> T (p.Thr716Met) single nucleotide variant Conflicting interpretations of pathogenicity rs193922635 GRCh37 Chromosome 1, 236918491: 236918491
45 ACTN2 NM_001103.3(ACTN2): c.2147C> T (p.Thr716Met) single nucleotide variant Conflicting interpretations of pathogenicity rs193922635 GRCh38 Chromosome 1, 236755191: 236755191
46 ACTN2 NM_001103.3(ACTN2): c.2577C> T (p.Ala859Ala=) single nucleotide variant Likely benign rs193922636 GRCh37 Chromosome 1, 236925811: 236925811
47 ACTN2 NM_001103.3(ACTN2): c.2577C> T (p.Ala859Ala=) single nucleotide variant Likely benign rs193922636 GRCh38 Chromosome 1, 236762511: 236762511
48 ALMS1 ALMS1 c.10625C> G p.Thr3542Ser single nucleotide variant Likely pathogenic
49 ALMS1 ALMS1 c.11860T> G p.Ser3954Ala single nucleotide variant Uncertain significance
50 ALMS1 NM_015120.4: c.11869+18G> A single nucleotide variant Uncertain significance

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
12.59 ACTN2 MYBPC3 PLN SCN1B SCN5A TNNI3
2
Show member pathways
12.54 MYH7 PLN SCN1B SCN5A TNNI3 TNNT2
3
Show member pathways
12.16 ACTN2 DSG2 DSP LMNA
4
Show member pathways
11.74 LMNA MYBPC3 MYH7 PLN TNNI3 TNNT2
5
Show member pathways
11.72 DSG2 DSP LMNA
6 11.5 MYH7 TNNI3 TNNT2
7 11.41 ACTN2 MYBPC3 TNNI3 TNNT2 TTN
8 11.3 SCN5A TNNI3 TNNT2
9 11.05 ACTN2 DSP GJA5
10 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 Z disc GO:0030018 9.65 ACTN2 MYBPC3 MYH7 SCN5A TTN
2 myofibril GO:0030016 9.58 MYH7 TNNI3 TNNT2
3 striated muscle thin filament GO:0005865 9.5 MYBPC3 TNNT2 TTN
4 myosin filament GO:0032982 9.48 MYBPC3 MYH7
5 voltage-gated sodium channel complex GO:0001518 9.46 SCN1B SCN5A
6 troponin complex GO:0005861 9.43 TNNI3 TNNT2
7 cardiac Troponin complex GO:1990584 9.37 TNNI3 TNNT2
8 intercalated disc GO:0014704 9.35 DSG2 DSP GJA5 SCN1B SCN5A
9 cardiac myofibril GO:0097512 9.33 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 35)
# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.83 ACTN2 LAMP2 TTN
2 muscle contraction GO:0006936 9.73 ACTN2 MYBPC3 MYH7 TNNI3 TNNT2 TTN
3 skeletal muscle contraction GO:0003009 9.69 MYH7 TNNI3 TNNT2
4 membrane depolarization GO:0051899 9.67 SCN1B SCN5A
5 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.67 GJA5 SCN1B SCN5A
6 sarcomere organization GO:0045214 9.67 ACTN2 MYBPC3 TNNT2 TTN
7 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.66 MIR1-2 PLN
8 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.66 MIR1-2 PLN
9 cardiac muscle tissue morphogenesis GO:0055008 9.65 MYBPC3 TTN
10 regulation of the force of heart contraction GO:0002026 9.65 MYH7 PLN
11 striated muscle contraction GO:0006941 9.65 MYH7 TNNI3 TTN
12 cardiac myofibril assembly GO:0055003 9.64 MYBPC3 TTN
13 regulation of muscle contraction GO:0006937 9.64 TNNI3 TNNT2
14 ventricular cardiac muscle cell action potential GO:0086005 9.63 GJA5 SCN5A
15 cardiac muscle cell action potential involved in contraction GO:0086002 9.63 SCN1B SCN5A
16 negative regulation of ATPase activity GO:0032780 9.63 PLN TNNI3 TNNT2
17 cardiac muscle fiber development GO:0048739 9.62 MYBPC3 TTN
18 positive regulation of sodium ion transport GO:0010765 9.62 SCN1B SCN5A
19 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.62 MYBPC3 MYH7 TNNI3 TNNT2
20 skeletal muscle thin filament assembly GO:0030240 9.61 MYBPC3 TTN
21 cardiac conduction GO:0061337 9.61 GJA5 SCN1B
22 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.61 GJA5 SCN1B SCN5A
23 regulation of cardiac muscle cell contraction GO:0086004 9.6 PLN SCN5A
24 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.59 SCN1B SCN5A
25 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.58 DSG2 DSP
26 skeletal muscle myosin thick filament assembly GO:0030241 9.58 MYBPC3 TTN
27 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.58 GJA5 MIR1-2 SCN5A
28 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.57 DSG2 DSP
29 SA node cell action potential GO:0086015 9.56 GJA5 SCN5A
30 desmosome organization GO:0002934 9.55 DSG2 DSP
31 regulation of heart rate by cardiac conduction GO:0086091 9.55 DSG2 DSP GJA5 SCN1B SCN5A
32 AV node cell to bundle of His cell communication GO:0086067 9.54 GJA5 SCN5A
33 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.52 SCN1B SCN5A
34 muscle filament sliding GO:0030049 9.43 ACTN2 MYBPC3 MYH7 TNNI3 TNNT2 TTN
35 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 12)
# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.73 ACTN2 LAMP2 SCN5A TNNI3
2 ion channel binding GO:0044325 9.69 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 9.49 SCN1B SCN5A
6 muscle alpha-actinin binding GO:0051371 9.48 MYBPC3 TTN
7 titin binding GO:0031432 9.46 ACTN2 MYBPC3
8 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.4 DSG2 DSP
9 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.37 SCN1B SCN5A
10 troponin C binding GO:0030172 9.16 TNNI3 TNNT2
11 actin filament binding GO:0051015 9.02 ACTN2 MYBPC3 MYH7 TNNI3 TTN
12 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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