ATRST1
MCID: ATR087
MIFTS: 59

Atrial Standstill 1 (ATRST1)

Categories: Genetic diseases, Cardiovascular 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, chest pain and edema. 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. Affiliated tissues include heart, lung and monocytes, and related phenotypes are endocardial fibroelastosis and premature atrial contractions

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 186)
# Related Disease Score Top Affiliating Genes
1 progressive familial heart block, type ia 35.4 GJA5 SCN5A
2 progressive familial heart block 35.1 GJA5 SCN1B SCN5A TNNT2
3 peripartum cardiomyopathy 35.0 MYH7 SCN5A TTN
4 cardiomyopathy, dilated, 1e 34.8 DSP LMNA MYH7 SCN5A TTN
5 restrictive cardiomyopathy 34.7 MYBPC3 MYH7 TNNI3 TNNT2 TTN TTR
6 familial progressive cardiac conduction defect 34.4 SCN1B SCN5A
7 familial isolated restrictive cardiomyopathy 34.3 TNNI3 TNNT2
8 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 34.3 DSG2 DSP SCN5A
9 cardiomyopathy, familial hypertrophic, 4 34.3 MYBPC3 TTN
10 arrhythmogenic right ventricular cardiomyopathy 34.3 ACTN2 DSG2 DSP LMNA PLN SCN5A
11 hypertrophic cardiomyopathy 34.2 ACTN2 DSP LAMP2 LMNA MYBPC3 MYH7
12 intrinsic cardiomyopathy 33.7 DSG2 DSP LMNA MYBPC3 MYH7 SCN5A
13 dilated cardiomyopathy 33.6 ACTN2 DSG2 DSP GJA5 LAMP2 LMNA
14 left ventricular noncompaction 33.5 ACTN2 DSP LMNA MIPEP MYBPC3 MYH7
15 familial isolated dilated cardiomyopathy 33.5 ACTN2 DSG2 MYBPC3 MYH7 PLN SCN5A
16 atrial standstill 33.4 GJA5 SCN5A
17 arrhythmogenic right ventricular dysplasia, familial, 1 33.3 DSG2 DSP TTN
18 arrhythmogenic right ventricular dysplasia, familial, 9 33.1 DSP PLN
19 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 33.0 DSG2 DSP LMNA TTN
20 heart block, congenital 12.7
21 progressive familial heart block, type ib 12.5
22 progressive familial heart block, type ii 12.5
23 cardiomyopathy, infantile histiocytoid 12.4
24 cardiomyopathy, dilated, 3b 12.3
25 cardiomyopathy, dilated, with woolly hair and keratoderma 12.3
26 sino-auricular heart block 12.3
27 cardiomyopathy, dilated, 1b 12.3
28 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 12.2
29 cardiomyopathy, dilated, 1o 12.2
30 cardiomyopathy, dilated, 1x 12.2
31 cardiomyopathy, dilated, 1a 12.2
32 cardiomyopathy, familial hypertrophic, 1 12.2
33 alcoholic cardiomyopathy 12.2
34 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 12.2
35 cardiomyopathy, dilated, 1kk 12.2
36 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction 12.2
37 cardiomyopathy, dilated, 1h 12.2
38 cardiomyopathy, familial hypertrophic, 6 12.2
39 cardiomyopathy, dilated, 1l 12.2
40 cardiomyopathy, dilated, 2a 12.1
41 cardiomyopathy, dilated, 1g 12.1
42 cardiomyopathy, dilated, 1p 12.1
43 cardiomyopathy, dilated, 1j 12.1
44 cardiomyopathy, dilated, 1i 12.1
45 cardiomyopathy, dilated, 1m 12.1
46 cardiomyopathy, dilated, 1w 12.1
47 cardiomyopathy, dilated, 1z 12.1
48 cardiomyopathy, dilated, 1bb 12.1
49 cardiomyopathy, dilated, 1cc 12.1
50 cardiomyopathy, dilated, 1dd 12.1

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

Lab:
endocardial fibroelastosis


Clinical features from OMIM:

108770

Human phenotypes related to Atrial Standstill 1:

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

UMLS symptoms related to Atrial Standstill 1:


angina pectoris, chest pain, edema

MGI Mouse Phenotypes related to Atrial Standstill 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 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, Monocytes, T Cells, Placenta, Atrioventricular Node, Pancreas

Publications for Atrial Standstill 1

Articles related to Atrial Standstill 1:

(show top 50) (show all 507)
# 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
Kimura's Disease Presenting as Proliferative Glomerulonephritis with Complete Heart Block. ( 29962683 )
2018
6
High maternal expression of SIGLEC1 on monocytes as a surrogate marker of a type I interferon signature is a risk factor for the development of autoimmune congenital heart block. ( 28501799 )
2017
7
Hypoplastic Left Heart Syndrome with Congenital Complete Heart Block. ( 28512719 )
2017
8
Genotypic and phenotypic predictors of complete heart block and recovery of conduction after surgical repair of congenital heart disease. ( 27826129 )
2017
9
Association of Natural Killer Cell Ligand Polymorphism HLA-C Asn80Lys With the Development of Anti-SSA/Ro-Associated Congenital Heart Block. ( 29045069 )
2017
10
Sclerosing Mediastinitis Presenting as Complete Heart Block. ( 28658779 )
2017
11
Outcomes of Heart Block in Myocarditis: A Review of 31,760 Patients. ( 29402690 )
2017
12
A complete heart block in a young male: a case report and review of literature of cardiac sarcoidosis. ( 27817119 )
2017
13
Leadless Micra pacemaker percutaneous extraction from pulmonary artery in complex congenital heart disease and complete heart block patient. ( 28943497 )
2017
14
Complete Heart Block in Association with Dengue Hemorrhagic Fever. ( 27826348 )
2016
15
Neonatal lupus erythematosus with congenital heart block in twins. ( 28051234 )
2016
16
Anaesthetic challenges in a child with sickle-cell disease and congenital heart block. ( 27141119 )
2016
17
Left Bundle Branch Block and Complete Heart Block Complicating Inferior Myocardial Infarction. ( 27411891 )
2016
18
Angiosarcoma of the Right Atrium with Extension to SVC and IVC Presenting with Complete Heart Block and Significant Pericardial Effusion. ( 27110407 )
2016
19
Autoimmune congenital heart block: complex and unusual situations. ( 26762645 )
2016
20
Congenital heart block related to maternal autoantibodies: descriptive analysis of a series of 18 cases from a single center. ( 26791874 )
2016
21
Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population. ( 28018021 )
2016
22
Ehrlichiosis Induced Aseptic Meningitis and Second Degree Heart Block in an Adolescent Male. ( 27097347 )
2016
23
Klebsiella oxytoca Endocarditis With Complete Heart Block. ( 27635410 )
2016
24
The high incidence of anti-Ro/SSA and anti-p200 antibodies in female patients with connective tissue diseases confirms the importance of screening for congenital heart block-associated autoantibodies during pregnancy. ( 26830903 )
2016
25
Targeting downstream transcription factors and epigenetic modifications following Toll-like receptor 7/8 ligation to forestall tissue injury in anti-Ro60 associated heart block. ( 26432597 )
2016
26
G protein-gated IKACh channels as therapeutic targets for treatment of sick sinus syndrome and heart block. ( 26831068 )
2016
27
Heart block following stage 1 palliation of hypoplastic left heart syndrome. ( 27343914 )
2016
28
Advanced heart block in acute rheumatic fever. ( 27053901 )
2016
29
Anti-Ro/SSA autoantibody-positive women's experience of information given on the risk of congenital heart block. ( 26670329 )
2016
30
Traumatic Gerbode ventricular septal defect and third-degree heart block. ( 27641901 )
2016
31
In search of an antibody specificity highly predictive of congenital heart block. ( 27158527 )
2016
32
Congenital heart block and immune mediated sensorineural hearing loss: possible cross reactivity of immune response. ( 27913750 )
2016
33
Maternal autoantibody profiles at risk for autoimmune congenital heart block: a prospective study in high-risk patients. ( 27026811 )
2016
34
A Hybrid ANN-GA Model to Prediction of Bivariate Binary Responses: Application to Joint Prediction of Occurrence of Heart Block and Death in Patients with Myocardial Infarction. ( 28087850 )
2016
35
Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I. ( 26820365 )
2016
36
Description of 214 cases of autoimmune congenital heart block: Results of the French neonatal lupus syndrome. ( 26284740 )
2015
37
Comparison of cardiac MRI and 18F-FDG positron emission tomography manifestations and regional response to corticosteroid therapy in newly diagnosed cardiac sarcoidosis with complet heart block. ( 26111805 )
2015
38
Undiagnosed cardiac sarcoidosis presenting as complete heart block and ventricular arrhythmia. ( 26282455 )
2015
39
Charcot-Marie-Tooth neuropathy and Mobitz II heart block. ( 26352718 )
2015
40
Werner Syndrome with Heart Block. ( 26071823 )
2015
41
Reactivity to the p305 Epitope of the I+1G T-Type Calcium Channel and Autoimmune-Associated Congenital Heart Block. ( 25994441 )
2015
42
Maternal predictive factors for fetal congenital heart block in pregnant mothers positive for anti-SS-A antibodies. ( 26457409 )
2015
43
Complete heart block with diastolic heart failure and pulmonary edema secondary to enlarging previously diagnosed thrombosed aneurysm of sinus of valsalva in a patient with history of autosomal dominant polycystic kidney disease. ( 25861484 )
2015
44
Prevention of recurrent congenital heart block in a SSA/SSB positive mother using high dose maternal IVIG from 16-week gestation. ( 26179183 )
2015
45
Ultrasound findings in fetal congenital heart block associated with maternal anti-Ro/SSA and Anti-La/SSB antibodies. ( 25706362 )
2015
46
Heart block after herpes zoster reactivation. ( 26569360 )
2015
47
Plasma exchange effectively removes 52- and 60-kDa anti-Ro/SSA and anti-La/SSB antibodies in pregnant women with congenital heart block. ( 25825254 )
2015
48
Infective Endocarditis Presenting as Complete Heart Block With an Unexpected Finding of a Cardiac Abscess and Purulent Pericarditis. ( 26491503 )
2015
49
The clinical spectrum of autoimmune congenital heart block. ( 25800217 )
2015
50
Apheresis in high risk antiphospholipid syndrome pregnancy and autoimmune congenital heart block. ( 26626966 )
2015

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 260)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315379 GRCh37 Chromosome 1, 201333464: 201333464
2 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315379 GRCh38 Chromosome 1, 201364336: 201364336
3 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh37 Chromosome 19, 55667607: 55667607
4 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh38 Chromosome 19, 55156239: 55156239
5 TNNI3 NM_000363.4(TNNI3): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs104894729 GRCh37 Chromosome 19, 55663260: 55663260
6 TNNI3 NM_000363.4(TNNI3): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs104894729 GRCh38 Chromosome 19, 55151892: 55151892
7 TTR NM_000371.3(TTR): c.424G> A (p.Val142Ile) single nucleotide variant Pathogenic rs76992529 GRCh37 Chromosome 18, 29178618: 29178618
8 TTR NM_000371.3(TTR): c.424G> A (p.Val142Ile) single nucleotide variant Pathogenic rs76992529 GRCh38 Chromosome 18, 31598655: 31598655
9 ABCC9 NM_005691.3(ABCC9): c.2554C> T (p.Gln852Ter) single nucleotide variant Likely pathogenic rs193922683 GRCh37 Chromosome 12, 22005391: 22005391
10 ABCC9 NM_005691.3(ABCC9): c.2554C> T (p.Gln852Ter) single nucleotide variant Likely pathogenic rs193922683 GRCh38 Chromosome 12, 21852457: 21852457
11 ALMS1 ALMS1: c.6299C> T single nucleotide variant Likely pathogenic
12 ALMS1 ALMS1 c.10625C> G p.Thr3542Ser single nucleotide variant Likely pathogenic
13 ALMS1 ALMS1 c.2419T> G p.Ser807Ala single nucleotide variant Likely pathogenic
14 ALMS1 ALMS1 c.4246C> T p.Arg1416Trp single nucleotide variant Likely pathogenic
15 EMD NM_000117.2(EMD): c.470G> A (p.Arg157Gln) single nucleotide variant Likely pathogenic rs148515772 GRCh38 Chromosome X, 154380902: 154380902
16 DSP NM_004415.3(DSP): c.1384_1386delATT (p.Ile462del) deletion Likely pathogenic rs193922668 GRCh37 Chromosome 6, 7568787: 7568789
17 DSP NM_004415.3(DSP): c.1384_1386delATT (p.Ile462del) deletion Likely pathogenic rs193922668 GRCh38 Chromosome 6, 7568554: 7568556
18 DSP NM_004415.3(DSP): c.7964C> G (p.Ala2655Gly) single nucleotide variant Likely pathogenic rs193922671 GRCh37 Chromosome 6, 7585459: 7585459
19 DSP NM_004415.3(DSP): c.7964C> G (p.Ala2655Gly) single nucleotide variant Likely pathogenic rs193922671 GRCh38 Chromosome 6, 7585226: 7585226
20 EMD NM_000117.2(EMD): c.470G> A (p.Arg157Gln) single nucleotide variant Likely pathogenic rs148515772 GRCh37 Chromosome X, 153609262: 153609262
21 MYLK2 NM_033118.3(MYLK2): c.595A> G (p.Ile199Val) single nucleotide variant Likely pathogenic rs193922712 GRCh37 Chromosome 20, 30409363: 30409363
22 MYLK2 NM_033118.3(MYLK2): c.595A> G (p.Ile199Val) single nucleotide variant Likely pathogenic rs193922712 GRCh38 Chromosome 20, 31821560: 31821560
23 PRKAG2 NM_016203.3(PRKAG2): c.879C> A (p.Phe293Leu) single nucleotide variant Likely pathogenic rs193922697 GRCh37 Chromosome 7, 151273524: 151273524
24 PRKAG2 NM_016203.3(PRKAG2): c.879C> A (p.Phe293Leu) single nucleotide variant Likely pathogenic rs193922697 GRCh38 Chromosome 7, 151576438: 151576438
25 MYBPC3 NM_000256.3(MYBPC3): c.2311dupG (p.Val771Glyfs) duplication Pathogenic rs397515960 GRCh37 Chromosome 11, 47359343: 47359343
26 MYBPC3 NM_000256.3(MYBPC3): c.2311dupG (p.Val771Glyfs) duplication Pathogenic rs397515960 GRCh38 Chromosome 11, 47337792: 47337792
27 MYBPC3 NM_000256.3(MYBPC3): c.2534_2538delGCGTC (p.Arg845Leufs) deletion Pathogenic rs397515973 GRCh37 Chromosome 11, 47359006: 47359010
28 MYBPC3 NM_000256.3(MYBPC3): c.2534_2538delGCGTC (p.Arg845Leufs) deletion Pathogenic rs397515973 GRCh38 Chromosome 11, 47337455: 47337459
29 MYH7 NM_000257.3(MYH7): c.1106G> A (p.Arg369Gln) single nucleotide variant Likely pathogenic rs397516089 GRCh37 Chromosome 14, 23899016: 23899016
30 MYH7 NM_000257.3(MYH7): c.1106G> A (p.Arg369Gln) single nucleotide variant Likely pathogenic rs397516089 GRCh38 Chromosome 14, 23429807: 23429807
31 MYH7 NM_000257.3(MYH7): c.5401G> A (p.Glu1801Lys) single nucleotide variant Likely pathogenic rs397516248 GRCh37 Chromosome 14, 23884362: 23884362
32 MYH7 NM_000257.3(MYH7): c.5401G> A (p.Glu1801Lys) single nucleotide variant Likely pathogenic rs397516248 GRCh38 Chromosome 14, 23415153: 23415153
33 PLN NM_002667.4(PLN): c.40_42delAGA (p.Arg14del) deletion Pathogenic rs397516784 GRCh37 Chromosome 6, 118880124: 118880126
34 PLN NM_002667.4(PLN): c.40_42delAGA (p.Arg14del) deletion Pathogenic rs397516784 GRCh38 Chromosome 6, 118558961: 118558963
35 DSP NM_004415.3(DSP): c.699G> A (p.Trp233Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516955 GRCh37 Chromosome 6, 7562986: 7562986
36 DSP NM_004415.3(DSP): c.699G> A (p.Trp233Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516955 GRCh38 Chromosome 6, 7562753: 7562753
37 LMNA NM_170707.3(LMNA): c.1304_1307dupGCAC (p.Ser437Hisfs) duplication Pathogenic rs267607577 GRCh37 Chromosome 1, 156106151: 156106154
38 LMNA NM_170707.3(LMNA): c.1304_1307dupGCAC (p.Ser437Hisfs) duplication Pathogenic rs267607577 GRCh38 Chromosome 1, 156136360: 156136363
39 MYH7 NM_000257.3(MYH7): c.1573G> A (p.Glu525Lys) single nucleotide variant Pathogenic rs606231324 GRCh37 Chromosome 14, 23897714: 23897714
40 MYH7 NM_000257.3(MYH7): c.1573G> A (p.Glu525Lys) single nucleotide variant Pathogenic rs606231324 GRCh38 Chromosome 14, 23428505: 23428505
41 ACTN2 NM_001103.3(ACTN2): c.2497G> A (p.Ala833Thr) single nucleotide variant Uncertain significance rs200854335 GRCh37 Chromosome 1, 236924444: 236924444
42 ACTN2 NM_001103.3(ACTN2): c.2497G> A (p.Ala833Thr) single nucleotide variant Uncertain significance rs200854335 GRCh38 Chromosome 1, 236761144: 236761144
43 DSC2 NM_024422.4(DSC2): c.1163A> T (p.Asn388Ile) single nucleotide variant Uncertain significance rs587782937 GRCh38 Chromosome 18, 31082338: 31082338
44 DSC2 NM_024422.4(DSC2): c.1163A> T (p.Asn388Ile) single nucleotide variant Uncertain significance rs587782937 GRCh37 Chromosome 18, 28662304: 28662304
45 DSP NM_004415.3(DSP): c.6295_6296delCCinsAT (p.Pro2099Ile) indel Uncertain significance rs587782942 GRCh37 Chromosome 6, 7583790: 7583791
46 DSP NM_004415.3(DSP): c.6295_6296delCCinsAT (p.Pro2099Ile) indel Uncertain significance rs587782942 GRCh38 Chromosome 6, 7583557: 7583558
47 MYBPC3 NM_000256.3(MYBPC3): c.3190+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs587782958 GRCh38 Chromosome 11, 47333552: 47333552
48 MYBPC3 NM_000256.3(MYBPC3): c.3190+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs587782958 GRCh37 Chromosome 11, 47355103: 47355103
49 RYR2 NM_001035.2(RYR2): c.6433G> C (p.Gly2145Arg) single nucleotide variant Uncertain significance rs587782974 GRCh37 Chromosome 1, 237791373: 237791373
50 RYR2 NM_001035.2(RYR2): c.6433G> C (p.Gly2145Arg) single nucleotide variant Uncertain significance rs587782974 GRCh38 Chromosome 1, 237628073: 237628073

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
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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.65 ACTN2 MYBPC3 MYH7 SCN5A TTN
2 myofibril GO:0030016 9.61 MYH7 TNNI3 TNNT2
3 muscle myosin complex GO:0005859 9.54 MYBPC3 MYH7 TTN
4 striated muscle thin filament GO:0005865 9.5 MYBPC3 TNNT2 TTN
5 myosin filament GO:0032982 9.49 MYBPC3 MYH7
6 voltage-gated sodium channel complex GO:0001518 9.48 SCN1B SCN5A
7 troponin complex GO:0005861 9.46 TNNI3 TNNT2
8 cardiac Troponin complex GO:1990584 9.4 TNNI3 TNNT2
9 sarcomere GO:0030017 9.35 ACTN2 MYBPC3 MYH7 TNNI3 TNNT2
10 cardiac myofibril GO:0097512 9.33 MYBPC3 TNNI3 TNNT2
11 intercalated disc GO:0014704 9.02 DSG2 DSP GJA5 SCN1B SCN5A

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.81 ACTN2 LAMP2 TTN
2 muscle contraction GO:0006936 9.77 ACTN2 MYH7 TNNI3 TNNT2 TTN
3 cardiac conduction GO:0061337 9.73 GJA5 SCN1B SCN5A
4 sarcomere organization GO:0045214 9.71 ACTN2 MYBPC3 TNNT2 TTN
5 skeletal muscle contraction GO:0003009 9.69 MYH7 TNNI3 TNNT2
6 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.67 GJA5 SCN1B SCN5A
7 membrane depolarization GO:0051899 9.65 SCN1B SCN5A
8 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.65 MIR1-2 PLN
9 negative regulation of ATPase activity GO:0032780 9.65 PLN TNNI3 TNNT2
10 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.64 MIR1-2 PLN
11 regulation of the force of heart contraction GO:0002026 9.63 MYH7 PLN
12 regulation of muscle contraction GO:0006937 9.63 TNNI3 TNNT2
13 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.63 GJA5 SCN1B SCN5A
14 cardiac muscle cell action potential involved in contraction GO:0086002 9.62 SCN1B SCN5A
15 positive regulation of sodium ion transport GO:0010765 9.62 SCN1B SCN5A
16 striated muscle contraction GO:0006941 9.62 MYBPC3 MYH7 TNNI3 TTN
17 ventricular cardiac muscle cell action potential GO:0086005 9.61 GJA5 SCN5A
18 regulation of cardiac muscle cell contraction GO:0086004 9.61 PLN SCN5A
19 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.61 GJA5 MIR1-2 SCN5A
20 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.6 SCN1B SCN5A
21 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.59 DSG2 DSP
22 striated muscle myosin thick filament assembly GO:0071688 9.58 MYBPC3 TTN
23 SA node cell action potential GO:0086015 9.58 GJA5 SCN5A
24 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.57 DSG2 DSP
25 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.56 MYBPC3 MYH7 TNNI3 TNNT2
26 desmosome organization GO:0002934 9.55 DSG2 DSP
27 regulation of heart rate by cardiac conduction GO:0086091 9.55 DSG2 DSP GJA5 SCN1B SCN5A
28 AV node cell to bundle of His cell communication GO:0086067 9.54 GJA5 SCN5A
29 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.52 SCN1B SCN5A
30 muscle filament sliding GO:0030049 9.43 ACTN2 MYBPC3 MYH7 TNNI3 TNNT2 TTN
31 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 9.78 ACTN2 LAMP2 SCN5A TNNI3
2 actin binding GO:0003779 9.65 ACTN2 MYBPC3 MYH7 TNNI3 TNNT2
3 voltage-gated sodium channel activity GO:0005248 9.51 SCN1B SCN5A
4 structural constituent of muscle GO:0008307 9.5 ACTN2 MYBPC3 TTN
5 muscle alpha-actinin binding GO:0051371 9.49 MYBPC3 TTN
6 titin binding GO:0031432 9.46 ACTN2 MYBPC3
7 structural molecule activity conferring elasticity GO:0097493 9.43 MYBPC3 TTN
8 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.4 SCN1B SCN5A
9 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.37 DSG2 DSP
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
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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