ATRST2
MCID: ATR074
MIFTS: 25

Atrial Standstill 2 (ATRST2)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Atrial Standstill 2

MalaCards integrated aliases for Atrial Standstill 2:

Name: Atrial Standstill 2 57 12 72 29 6 70
Atrial Dilation and Standstill 57 72
Atrst2 57 72
Cardiomyopathy, Atrial Dilated, with Atrial Standstill 57
Atrial Dilated Cardiomyopathy with Atrial Standstill 72
Standstill, Atrial, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in the fourth to sixth decade of life


HPO:

31
atrial standstill 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080663
OMIM® 57 615745
UMLS 70 C3810401

Summaries for Atrial Standstill 2

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). (615745) (Updated 05-Apr-2021)

MalaCards based summary : Atrial Standstill 2, also known as atrial dilation and standstill, is related to cardiovascular system disease and atrial fibrillation, familial, 6. An important gene associated with Atrial Standstill 2 is NPPA (Natriuretic Peptide A). Related phenotypes are dyspnea and stroke

Disease Ontology : 12 A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has material basis in homozygous mutation in the NPPA gene on chromosome 1p36.

UniProtKB/Swiss-Prot : 72 Atrial standstill 2: 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 2

Diseases in the Atrial Standstill family:

Atrial Standstill 1 Atrial Standstill 2

Diseases related to Atrial Standstill 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cardiovascular system disease 9.6 NPPA-AS1 NPPA
2 atrial fibrillation, familial, 6 9.3 NPPA-AS1 NPPA LOC114827827
3 atrial standstill 9.2 NPPA-AS1 NPPA LOC114827827

Symptoms & Phenotypes for Atrial Standstill 2

Human phenotypes related to Atrial Standstill 2:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 dyspnea 31 HP:0002094
2 stroke 31 HP:0001297
3 cardiomyopathy 31 HP:0001638
4 scarring 31 HP:0100699
5 palpitations 31 HP:0001962
6 bradycardia 31 HP:0001662
7 dilatation of the ventricular cavity 31 HP:0006698
8 atrial arrhythmia 31 HP:0001692
9 atrial standstill 31 HP:0025478
10 atrial cardiomyopathy 31 HP:0200127
11 hyperpepsinogenemia i 31 HP:0003238
12 absent p wave 31 HP:0033122

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
bradycardia
progressive biatrial enlargement
progressive decrease in atrial voltage
absence of p wave on electrocardiography
no atrial electrical activity on endocavitary recordings
more

Clinical features from OMIM®:

615745 (Updated 05-Apr-2021)

Drugs & Therapeutics for Atrial Standstill 2

Search Clinical Trials , NIH Clinical Center for Atrial Standstill 2

Genetic Tests for Atrial Standstill 2

Genetic tests related to Atrial Standstill 2:

# Genetic test Affiliating Genes
1 Atrial Standstill 2 29 NPPA

Anatomical Context for Atrial Standstill 2

Publications for Atrial Standstill 2

Articles related to Atrial Standstill 2:

# Title Authors PMID Year
1
Autosomal recessive atrial dilated cardiomyopathy with standstill evolution associated with mutation of Natriuretic Peptide Precursor A. 6 57
23275345 2013
2
Familial endemic persistent atrial standstill in a small mountain community: review of eight cases. 57 6
6225642 1983
3
Familial atrial standstill in association with dilated cardiomyopathy. 57
16176547 2005
4
Dissimilar atrial rhythms. A patient with triple right atrial rhythm. 61
7446365 1980

Variations for Atrial Standstill 2

ClinVar genetic disease variations for Atrial Standstill 2:

6
# 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 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

UniProtKB/Swiss-Prot genetic disease variations for Atrial Standstill 2:

72
# Symbol AA change Variation ID SNP ID
1 NPPA p.Arg150Gln VAR_071307 rs202102042

Expression for Atrial Standstill 2

Search GEO for disease gene expression data for Atrial Standstill 2.

Pathways for Atrial Standstill 2

GO Terms for Atrial Standstill 2

Sources for Atrial Standstill 2

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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