ATRST2
MCID: ATR074
MIFTS: 22

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 58 76 30 6 74
Atrial Dilation and Standstill 58 76
Atrst2 58 76
Cardiomyopathy, Atrial Dilated, with Atrial Standstill 58
Atrial Dilated Cardiomyopathy with Atrial Standstill 76
Standstill, Atrial, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
atrial standstill 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Atrial Standstill 2

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). (615745)

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

UniProtKB/Swiss-Prot : 76 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 atrial fibrillation, familial, 6 9.6 NPPA NPPA-AS1
2 atrial standstill 9.5 NPPA NPPA-AS1

Symptoms & Phenotypes for Atrial Standstill 2

Human phenotypes related to Atrial Standstill 2:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 dyspnea 33 HP:0002094
2 cardiomyopathy 33 HP:0001638
3 stroke 33 HP:0001297
4 scarring 33 HP:0100699
5 palpitations 33 HP:0001962
6 bradycardia 33 HP:0001662
7 dilatation of the ventricular cavity 33 HP:0006698
8 atrial standstill 33 HP:0025478
9 atrial cardiomyopathy 33 HP:0200127
10 hyperpepsinogenemia i 33 HP:0003238
11 atrial arrhythmia 33 HP:0001692

Symptoms via clinical synopsis from OMIM:

58
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

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 30 NPPA

Anatomical Context for Atrial Standstill 2

Publications for Atrial Standstill 2

Variations for Atrial Standstill 2

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

76
# Symbol AA change Variation ID SNP ID
1 NPPA p.Arg150Gln VAR_071307

ClinVar genetic disease variations for Atrial Standstill 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NPPA NM_006172.3(NPPA): c.449G> A (p.Arg150Gln) single nucleotide variant Pathogenic rs202102042 GRCh37 Chromosome 1, 11907171: 11907171
2 NPPA NM_006172.3(NPPA): c.449G> A (p.Arg150Gln) single nucleotide variant Pathogenic rs202102042 GRCh38 Chromosome 1, 11847114: 11847114

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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