MCID: ATR081
MIFTS: 31

Atrial Standstill

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Atrial Standstill

MalaCards integrated aliases for Atrial Standstill:

Name: Atrial Standstill 58 70
Cardiomyopathy, Familial, with Conduction Disturbance 70
Atrial Cardiomyopathy with Heart Block 58
Standstill, Atrial 39

Characteristics:

Orphanet epidemiological data:

58
atrial standstill
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult;

Classifications:



External Ids:

ICD10 via Orphanet 33 I45.5
UMLS via Orphanet 71 C0541782 C1838539
Orphanet 58 ORPHA1344
UMLS 70 C0541782 C1838539

Summaries for Atrial Standstill

MalaCards based summary : Atrial Standstill, also known as cardiomyopathy, familial, with conduction disturbance, is related to atrial standstill 1 and atrial standstill 2. An important gene associated with Atrial Standstill is NPPA (Natriuretic Peptide A), and among its related pathways/superpathways is Antiarrhythmic Pathway, Pharmacodynamics. Affiliated tissues include heart, kidney and brain.

Related Diseases for Atrial Standstill

Diseases in the Atrial Standstill family:

Atrial Standstill 1 Atrial Standstill 2

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

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 32.4 SCN5A GJA5
2 atrial standstill 2 32.0 NPPA-AS1 NPPA LOC114827827
3 syncope 30.5 SCN5A NPPA
4 progressive familial heart block, type ia 30.3 SCN5A GJA5
5 sinoatrial node disease 30.3 SCN5A GJA5
6 sick sinus syndrome 30.1 SCN5A NPPA GJA5
7 heart septal defect 30.1 NPPA GJA5
8 congestive heart failure 30.0 SCN5A NPPA
9 ebstein anomaly 29.9 SCN5A GJA5
10 atrial fibrillation 29.8 SCN5A NPPA GJA5
11 atrial heart septal defect 29.7 SCN5A NPPA GJA5
12 dilated cardiomyopathy 29.5 SCN5A NPPA GJA5
13 hypertrophic cardiomyopathy 29.5 SCN5A NPPA GJA5
14 tetralogy of fallot 29.4 SCN5A NPPA GJA5
15 myocarditis 10.4
16 amyloidosis 10.4
17 muscular dystrophy 10.3
18 tricuspid valve insufficiency 10.3
19 brugada syndrome 10.2
20 intracranial embolism 10.2
21 cardiac conduction defect 10.2
22 progressive familial heart block, type ib 10.2
23 right bundle branch block 10.2
24 mitral valve stenosis 10.2
25 myopathy 10.2
26 brugada syndrome 1 10.1
27 deficiency anemia 10.1
28 rheumatic heart disease 10.1
29 left ventricular noncompaction 10.1
30 mitral valve insufficiency 10.1
31 emery-dreifuss muscular dystrophy 10.1
32 megaloblastic anemia 10.1
33 heart valve disease 10.1
34 hereditary lymphedema ic 10.0 SCN5A GJA5
35 progressive familial heart block 10.0 SCN5A GJA5
36 third-degree atrioventricular block 10.0 SCN5A GJA5
37 atrioventricular block 10.0 SCN5A GJA5
38 palmoplantar keratoderma and congenital alopecia 1 10.0 SCN5A GJA5
39 myasthenic syndrome, congenital, 5 10.0 SCN5A GJA5
40 sarcoidosis 1 9.9
41 thiamine-responsive megaloblastic anemia syndrome 9.9
42 cardiomyopathy, dilated, 1e 9.9
43 stroke, ischemic 9.9
44 branchiootic syndrome 1 9.9
45 ventricular fibrillation, paroxysmal familial, 1 9.9
46 sick sinus syndrome 1 9.9
47 atrial fibrillation, familial, 10 9.9
48 acute diarrhea 9.9
49 exanthem 9.9
50 autosomal recessive disease 9.9

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



Diseases related to Atrial Standstill

Symptoms & Phenotypes for Atrial Standstill

Drugs & Therapeutics for Atrial Standstill

Search Clinical Trials , NIH Clinical Center for Atrial Standstill

Genetic Tests for Atrial Standstill

Anatomical Context for Atrial Standstill

MalaCards organs/tissues related to Atrial Standstill:

40
Heart, Kidney, Brain

Publications for Atrial Standstill

Articles related to Atrial Standstill:

(show top 50) (show all 231)
# Title Authors PMID Year
1
Autosomal recessive atrial dilated cardiomyopathy with standstill evolution associated with mutation of Natriuretic Peptide Precursor A. 61 6
23275345 2013
2
Familial endemic persistent atrial standstill in a small mountain community: review of eight cases. 6 61
6225642 1983
3
Identification of rare heterozygous linkage R965C-R1309H mutations in the pore-forming region of SCN5A gene associated with complex arrhythmia. 61
33764691 2021
4
Cardiac Arrhythmias in Muscular Dystrophies Associated with Emerinopathy and Laminopathy: A Cohort Study. 61
33673224 2021
5
Pathological Features of Persistent Atrial Standstill Syndrome in Three Dogs. 61
33222880 2020
6
Expanding the Clinical Phenotype of Emerinopathies: Atrial Standstill and Left Ventricular Noncompaction. 61
33079577 2020
7
Cardiac Emerinopathy: A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction. 61
32755394 2020
8
Left Atrial Standstill and Interatrial Block. 61
32359950 2020
9
An SCN1B Variant Affects Both Cardiac-Type (NaV1.5) and Brain-Type (NaV1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders. 61
33134290 2020
10
Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report. 61
32850980 2020
11
Isolated Left Atrial Standstill in Patients with Hypertrophic Cardiomyopathy and Atrial Fibrillation after Restoration of Sinus Rhythm. 61
31351793 2019
12
A case of atrial standstill with the atrial lead of a dual-chamber pacemaker implanted in the coronary sinus. 61
31285994 2019
13
Indications for permanent pacing in dogs and cats. 61
30709617 2019
14
Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies. 61
30518714 2019
15
Atrial standstill presenting as cerebral infarction in a 7-year-old girl. 61
30783526 2019
16
Idiopathic isolated fibrotic atrial cardiomyopathy underlies unexplained scar-related atrial tachycardia in younger patients. 61
29293999 2018
17
Cardiac voltage-gated sodium channel mutations associated with left atrial dysfunction and stroke in children. 61
29579189 2018
18
Long-term follow-up of permanent atrial standstill in a German family with mutation in the SCN5A gene. 61
30116708 2018
19
A homozygous SCN5A mutation associated with atrial standstill and sudden death. 61
29781517 2018
20
Limited effects of long-term enzyme replacement therapy on the cardiac conduction system in Fabry disease. 61
30279886 2018
21
Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes. 61
30130999 2018
22
Atrial standstill in a pediatric patient with associated caveolin-3 mutation. 61
29387541 2017
23
Dysfunction of Myosin Light-Chain 4 (MYL4) Leads to Heritable Atrial Cardiomyopathy With Electrical, Contractile, and Structural Components: Evidence From Genetically-Engineered Rats. 61
29080865 2017
24
Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation. 61
28705318 2017
25
Presumptive partial atrial standstill secondary to atrial cardiomyopathy in a Greyhound. 61
28314614 2017
26
Survival time with pacemaker implantation for dogs diagnosed with persistent atrial standstill. 61
28578822 2017
27
[Clinical features and outcomes of radiofrequency catheter ablation of atrial flutter in children]. 61
28441822 2017
28
Persistent atrial standstill following the Cox-maze III procedure: reversal with sustained atrial pacing. 61
27558131 2017
29
Anti-mitochondrial M2 Antibodies Enhance the Risk of Supraventricular Arrhythmias in Patients with Elevated Hepatobiliary Enzyme Levels. 61
28717071 2017
30
Persistent atrial standstill with coronary and cerebral embolism treated with left atrial appendage closure. 61
27723534 2016
31
Atrial standstill in suspected isolated cardiac sarcoidosis. 61
30546677 2016
32
The role of mutations in the SCN5A gene in cardiomyopathies. 61
26916278 2016
33
Coexisting Hyponatremia and Decline in Diastolic Blood Pressure Predispose to Atrial Standstill in Hyperkalemic Patients. 61
27301330 2016
34
Long-term management of atrial myopathy in two dogs with single chamber permanent transvenous pacemakers. 61
26923757 2016
35
Atrial standstill and thromboembolic complications. 61
26976773 2016
36
Survival of 4 dogs with persistent atrial standstill treated by pacemaker implantation. 61
26933268 2016
37
Atrial standstill in sinus node disease due to extensive atrial fibrosis: impact on dual chamber pacemaker implantation. 61
25995399 2016
38
Persistent Atrial Standstill in Acute Myocarditis. 61
26897154 2016
39
Intracardiac echocardiography for immediate detection of intracardiac thrombus formation. 61
26192113 2015
40
Stroke in a Young Individual with Left Ventricular Noncompaction and Left Atrium Standstill. 61
26413113 2015
41
Partial right atrial standstill enhancing SVC re-entry tachycardia. 61
25777938 2015
42
Persistent isolated right atrial standstill associated with left atrial tachycardia. 61
25785252 2014
43
Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease. 61
25171853 2014
44
Electroanatomic mapping and late gadolinium enhancement MRI in a genetic model of arrhythmogenic atrial cardiomyopathy. 61
24758425 2014
45
Heart failure after transvenous closure of atrial septal defect associated with atrial standstill and thiamine-responsive megaloblastic anemia. 61
24164997 2013
46
Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects. 61
23818691 2013
47
Atrial standstill in a patient with progressive severe heart failure. 61
23529655 2013
48
The use of high-dose insulin therapy and intravenous lipid emulsion to treat severe, refractory diltiazem toxicosis in a dog. 61
23656275 2013
49
Atrial standstill. 61
23194782 2013
50
Isolated left atrial standstill identified during catheter ablation. 61
21070263 2013

Variations for Atrial Standstill

ClinVar genetic disease variations for Atrial Standstill:

6 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.449G>A (p.Arg150Gln) SNV Pathogenic 126846 rs202102042 GRCh37: 1:11907171-11907171
GRCh38: 1:11847114-11847114
2 GJA5 NC_000001.10:g.(?_147230250)_(147231366_?)dup Duplication Uncertain significance 471954 GRCh37: 1:147230250-147231366
GRCh38:
3 GJA5 NM_181703.4(GJA5):c.365C>T (p.Ser122Phe) SNV Uncertain significance 539329 rs781831348 GRCh37: 1:147230982-147230982
GRCh38: 1:147758874-147758874
4 GJA5 NM_181703.4(GJA5):c.977G>A (p.Gly326Glu) SNV Uncertain significance 566272 rs782703462 GRCh37: 1:147230370-147230370
GRCh38: 1:147758262-147758262
5 GJA5 NM_181703.4(GJA5):c.430G>A (p.Ala144Thr) SNV Uncertain significance 567064 rs782438073 GRCh37: 1:147230917-147230917
GRCh38: 1:147758809-147758809
6 GJA5 NM_181703.4(GJA5):c.433del (p.Leu145fs) Deletion Uncertain significance 567837 rs781802553 GRCh37: 1:147230914-147230914
GRCh38: 1:147758806-147758806
7 GJA5 NM_181703.4(GJA5):c.259A>T (p.Thr87Ser) SNV Uncertain significance 570545 rs1557943770 GRCh37: 1:147231088-147231088
GRCh38: 1:147758980-147758980
8 GJA5 NM_181703.4(GJA5):c.325C>T (p.Arg109Trp) SNV Uncertain significance 575645 rs782392307 GRCh37: 1:147231022-147231022
GRCh38: 1:147758914-147758914
9 GJA5 NM_181703.4(GJA5):c.973A>C (p.Asn325His) SNV Uncertain significance 577662 rs782592443 GRCh37: 1:147230374-147230374
GRCh38: 1:147758266-147758266
10 GJA5 NM_181703.4(GJA5):c.496G>A (p.Gly166Ser) SNV Uncertain significance 577850 rs782065420 GRCh37: 1:147230851-147230851
GRCh38: 1:147758743-147758743
11 GJA5 NM_181703.4(GJA5):c.995G>A (p.Arg332His) SNV Uncertain significance 292448 rs116551187 GRCh37: 1:147230352-147230352
GRCh38: 1:147758244-147758244
12 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.253G>A (p.Gly85Arg) SNV Uncertain significance 240293 rs749353276 GRCh37: 1:11907367-11907367
GRCh38: 1:11847310-11847310
13 GJA5 NM_181703.4(GJA5):c.148G>A (p.Ala50Thr) SNV Uncertain significance 638996 rs782167622 GRCh37: 1:147231199-147231199
GRCh38: 1:147759091-147759091
14 GJA5 NM_181703.4(GJA5):c.411G>T (p.Glu137Asp) SNV Uncertain significance 645730 rs200288659 GRCh37: 1:147230936-147230936
GRCh38: 1:147758828-147758828
15 GJA5 NM_181703.4(GJA5):c.793C>T (p.Pro265Ser) SNV Uncertain significance 648482 rs148311482 GRCh37: 1:147230554-147230554
GRCh38: 1:147758446-147758446
16 GJA5 NC_000001.10:g.(?_147230260)_(147245383_?)del Deletion Uncertain significance 659591 GRCh37: 1:147230260-147245383
GRCh38:
17 GJA5 NM_181703.4(GJA5):c.199G>T (p.Asp67Tyr) SNV Uncertain significance 664564 rs150906806 GRCh37: 1:147231148-147231148
GRCh38: 1:147759040-147759040
18 GJA5 NM_181703.4(GJA5):c.947G>A (p.Arg316His) SNV Uncertain significance 835840 GRCh37: 1:147230400-147230400
GRCh38: 1:147758292-147758292
19 GJA5 NM_181703.4(GJA5):c.1035_1038del (p.Ser345fs) Deletion Uncertain significance 836933 GRCh37: 1:147230309-147230312
GRCh38: 1:147758201-147758204
20 GJA5 NM_181703.4(GJA5):c.1006G>A (p.Gly336Ser) SNV Uncertain significance 838990 GRCh37: 1:147230341-147230341
GRCh38: 1:147758233-147758233
21 GJA5 NM_181703.4(GJA5):c.479G>T (p.Arg160Leu) SNV Uncertain significance 844690 GRCh37: 1:147230868-147230868
GRCh38: 1:147758760-147758760
22 GJA5 NM_181703.4(GJA5):c.286G>T (p.Ala96Ser) SNV Uncertain significance 16998 rs121434557 GRCh37: 1:147231061-147231061
GRCh38: 1:147758953-147758953
23 GJA5 NM_181703.4(GJA5):c.592G>A (p.Val198Ile) SNV Uncertain significance 859880 GRCh37: 1:147230755-147230755
GRCh38: 1:147758647-147758647
24 GJA5 NM_181703.4(GJA5):c.297T>G (p.Thr99=) SNV Uncertain significance 936909 GRCh37: 1:147231050-147231050
GRCh38: 1:147758942-147758942
25 GJA5 NM_181703.4(GJA5):c.358T>C (p.Ser120Pro) SNV Uncertain significance 963188 GRCh37: 1:147230989-147230989
GRCh38: 1:147758881-147758881
26 GJA5 NM_181703.4(GJA5):c.478C>T (p.Arg160Cys) SNV Uncertain significance 970329 GRCh37: 1:147230869-147230869
GRCh38: 1:147758761-147758761
27 GJA5 NM_181703.4(GJA5):c.790C>A (p.Pro264Thr) SNV Uncertain significance 971270 GRCh37: 1:147230557-147230557
GRCh38: 1:147758449-147758449
28 GJA5 NM_181703.4(GJA5):c.941A>G (p.Gln314Arg) SNV Uncertain significance 1001932 GRCh37: 1:147230406-147230406
GRCh38: 1:147758298-147758298
29 GJA5 NM_181703.4(GJA5):c.199G>A (p.Asp67Asn) SNV Uncertain significance 1018451 GRCh37: 1:147231148-147231148
GRCh38: 1:147759040-147759040
30 GJA5 NM_181703.4(GJA5):c.787C>T (p.Pro263Ser) SNV Uncertain significance 1021422 GRCh37: 1:147230560-147230560
GRCh38: 1:147758452-147758452
31 GJA5 NM_181703.4(GJA5):c.771dup (p.Val258fs) Duplication Uncertain significance 1025426 GRCh37: 1:147230575-147230576
GRCh38: 1:147758467-147758468
32 GJA5 NM_181703.4(GJA5):c.525C>G (p.Tyr175Ter) SNV Uncertain significance 1034934 GRCh37: 1:147230822-147230822
GRCh38: 1:147758714-147758714
33 GJA5 NM_181703.4(GJA5):c.278T>C (p.Met93Thr) SNV Uncertain significance 1038988 GRCh37: 1:147231069-147231069
GRCh38: 1:147758961-147758961
34 GJA5 NM_181703.4(GJA5):c.1024C>T (p.Arg342Ter) SNV Uncertain significance 1056660 GRCh37: 1:147230323-147230323
GRCh38: 1:147758215-147758215
35 GJA5 NM_181703.4(GJA5):c.170T>G (p.Ile57Ser) SNV Uncertain significance 1062702 GRCh37: 1:147231177-147231177
GRCh38: 1:147759069-147759069
36 GJA5 NC_000001.10:g.(?_147230260)_(147245383_?)dup Duplication Uncertain significance 831772 GRCh37: 1:147230260-147245383
GRCh38:
37 GJA5 NM_181703.4(GJA5):c.995G>A (p.Arg332His) SNV Likely benign 292448 rs116551187 GRCh37: 1:147230352-147230352
GRCh38: 1:147758244-147758244
38 GJA5 NM_181703.4(GJA5):c.369C>T (p.Tyr123=) SNV Benign 292449 rs2232191 GRCh37: 1:147230978-147230978
GRCh38: 1:147758870-147758870
39 GJA5 NM_181703.4(GJA5):c.726G>A (p.Arg242=) SNV Benign 696597 rs150432230 GRCh37: 1:147230621-147230621
GRCh38: 1:147758513-147758513

Expression for Atrial Standstill

Search GEO for disease gene expression data for Atrial Standstill.

Pathways for Atrial Standstill

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

# Super pathways Score Top Affiliating Genes
1 10.37 SCN5A GJA5

GO Terms for Atrial Standstill

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

# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 8.62 SCN5A GJA5

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

# Name GO ID Score Top Affiliating Genes
1 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 8.96 SCN5A GJA5
2 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 8.62 SCN5A NPPA

Sources for Atrial Standstill

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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